Variant report

Variant	nsv566137
Chromosome Location	chr14:105332322-105359556
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr14:105338233-105339097	GM12878	blood:	n/a	n/a
2	BCL3	chr14:105338151-105339169	GM12878	blood:	n/a	n/a
3	CCNT2	chr14:105331578-105332342	K562	blood:	n/a	chr14:105331965-105331974
4	CCNT2	chr14:105358499-105358699	K562	blood:	n/a	n/a
5	CEBPB	chr14:105338896-105339177	IMR90	lung:	n/a	n/a
6	CHD1	chr14:105332060-105332361	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD1	chr14:105348520-105348722	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr14:105342646-105342968	Hela-S3	cervix:	n/a	n/a
9	CHD2	chr14:105337215-105337237	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTBP2	chr14:105331960-105332433	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr14:105337180-105337330	HVMF	connective:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
12	CTCF	chr14:105345920-105346070	GM12869	blood:	n/a	chr14:105345972-105345990 chr14:105345975-105345984 chr14:105345972-105345985 chr14:105345975-105345988
13	CTCF	chr14:105345900-105346050	WERI-Rb-1	eye:	n/a	chr14:105345972-105345990 chr14:105345975-105345984 chr14:105345972-105345985 chr14:105345975-105345988
14	CTCF	chr14:105345880-105346030	NB4	blood:	n/a	chr14:105345972-105345990 chr14:105345975-105345984 chr14:105345972-105345985 chr14:105345975-105345988
15	CTCF	chr14:105337064-105337401	HepG2	liver:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
16	CTCF	chr14:105337150-105337425	GM12878	blood:	n/a	chr14:105337409-105337422 chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
17	CTCF	chr14:105337180-105337330	GM12867	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
18	CTCF	chr14:105332420-105332570	BJ	skin:	n/a	n/a
19	CTCF	chr14:105345968-105346034	GM12878	blood:	n/a	chr14:105345972-105345990 chr14:105345975-105345984 chr14:105345972-105345985 chr14:105345975-105345988
20	CTCF	chr14:105337200-105337350	SAEC	small airway:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
21	CTCF	chr14:105337240-105337390	HPF	lung:	n/a	chr14:105337275-105337288 chr14:105337273-105337291
22	CTCF	chr14:105337240-105337390	GM12871	blood:	n/a	chr14:105337275-105337288 chr14:105337273-105337291
23	CTCF	chr14:105337200-105337350	HRPEpiC	eye:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
24	CTCF	chr14:105359240-105359390	HCPEpiC	choroid plexus:	n/a	chr14:105359252-105359265
25	CTCF	chr14:105345900-105346050	GM12874	blood:	n/a	chr14:105345972-105345990 chr14:105345975-105345984 chr14:105345972-105345985 chr14:105345975-105345988
26	CTCF	chr14:105337240-105337390	GM12873	blood:	n/a	chr14:105337275-105337288 chr14:105337273-105337291
27	CTCF	chr14:105337130-105337399	HepG2	liver:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
28	CTCF	chr14:105338475-105338655	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr14:105337200-105337350	GM12864	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
30	CTCF	chr14:105337176-105337388	K562	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
31	CTCF	chr14:105337200-105337350	K562	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
32	CTCF	chr14:105337220-105337370	GM12865	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
33	CTCF	chr14:105337220-105337370	HPAF	blood vessel:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
34	CTCF	chr14:105337220-105337370	NHDF-neo	bronchial:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
35	CTCF	chr14:105337256-105337332	Lung_OC	lung:	n/a	chr14:105337275-105337288 chr14:105337273-105337291
36	CTCF	chr14:105337094-105337419	H1-hESC	embryonic stem cell:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
37	CTCF	chr14:105337220-105337370	GM12867	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
38	CTCF	chr14:105337220-105337370	HCT-116	colon:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
39	CTCF	chr14:105337220-105337370	GM12869	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
40	CTCF	chr14:105332540-105332690	HRE	kidney:	n/a	n/a
41	CTCF	chr14:105337200-105337350	WERI-Rb-1	eye:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
42	CTCF	chr14:105337200-105337350	GM12874	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
43	CTCF	chr14:105345900-105346190	GM12866	blood:	n/a	chr14:105345972-105345990 chr14:105345975-105345984 chr14:105345972-105345985 chr14:105345975-105345988
44	CTCF	chr14:105337160-105337310	HMEC	breast:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
45	CTCF	chr14:105337060-105337440	H1-hESC	embryonic stem cell:	n/a	chr14:105337409-105337422 chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
46	CTCF	chr14:105337196-105337357	MCF-7	breast:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
47	CTCF	chr14:105337198-105337380	GM20000	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
48	CTCF	chr14:105337240-105337390	HFF-Myc	foreskin:	n/a	chr14:105337275-105337288 chr14:105337273-105337291
49	CTCF	chr14:105337220-105337370	GM12871	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
50	CTCF	chr14:105337380-105337530	HCM	heart:	n/a	chr14:105337409-105337422

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105343597-105343647	Jurkat	blood:	n/a
2	chr14:105352991-105353041	NH-A	brain:	n/a
3	chr14:105333334-105333384	SKMC	muscle:	n/a
4	chr14:105343597-105343647	Jurkat	blood:	n/a
5	chr14:105352991-105353041	NH-A	brain:	n/a
6	chr14:105333334-105333384	SKMC	muscle:	n/a
7	chr14:105354267-105354317	AG04450	lung:	fetal
8	chr14:105332600-105332650	AoSMC	blood vessel:	n/a
9	chr14:105343597-105343647	K562	blood:	n/a
10	chr14:105354889-105354939	HNPCEpiC	eye:	n/a
11	chr14:105343597-105343647	AG09309	skin:	n/a
12	chr14:105336144-105336194	Jurkat	blood:	n/a
13	chr14:105358567-105358617	NT2-D1	testis:	n/a
14	chr14:105333334-105333384	MCF-7	breast:	n/a
15	chr14:105349607-105349657	Hela-S3	cervix:	n/a
16	chr14:105334648-105334698	BE2_C	brain:	n/a
17	chr14:105336144-105336194	Hela-S3	cervix:	n/a
18	chr14:105350432-105350482	Hepatocyte	liver:	n/a
19	chr14:105334648-105334698	Hela-S3	cervix:	n/a
20	chr14:105349776-105349826	HAEpiC	amniotic membrane:	n/a
21	chr14:105332484-105332534	GM06990	blood:	n/a
22	chr14:105352634-105352684	T-47D	breast:	n/a
23	chr14:105339549-105339599	T-47D	breast:	n/a
24	chr14:105349776-105349826	GM12892	blood:	n/a
25	chr14:105350697-105350747	PrEC	prostate:	n/a
26	chr14:105352991-105353041	SK-N-SH	brain:	n/a
27	chr14:105349776-105349826	CMK	blood:	n/a
28	chr14:105354267-105354317	ProgFib	skin:	n/a
29	chr14:105336144-105336194	MCF-7	breast:	n/a
30	chr14:105353169-105353219	SK-N-MC	brain:	n/a
31	chr14:105332600-105332650	HIPEpiC	eye:	n/a
32	chr14:105334648-105334698	HUVEC	blood vessel:	n/a
33	chr14:105347803-105347853	GM12892	blood:	n/a
34	chr14:105350290-105350340	GM19239	blood:	n/a
35	chr14:105336144-105336194	RPTEC	kidney:	n/a
36	chr14:105334648-105334698	ProgFib	skin:	n/a
37	chr14:105352884-105352934	NHBE	bronchial:	n/a
38	chr14:105332600-105332650	HCPEpiC	choroid plexus:	n/a
39	chr14:105356083-105356133	HepG2	liver:	n/a
40	chr14:105334648-105334698	PFSK-1	brain:	n/a
41	chr14:105339549-105339599	GM12892	blood:	n/a
42	chr14:105347803-105347853	HCPEpiC	choroid plexus:	n/a
43	chr14:105344761-105344811	MCF10A-Er-Src	breast:	n/a
44	chr14:105349776-105349826	Hela-S3	cervix:	n/a
45	chr14:105347803-105347853	HRE	kidney:	n/a
46	chr14:105350697-105350747	HAEpiC	amniotic membrane:	n/a
47	chr14:105357477-105357527	Hepatocyte	liver:	n/a
48	chr14:105352884-105352934	Hela-S3	cervix:	n/a
49	chr14:105350290-105350340	NHDF-neo	bronchial:	n/a
50	chr14:105347803-105347853	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105346758..105349135-chr14:105488164..105490065,2	MCF-7	breast:
2	chr14:105293628..105294624-chr14:105337330..105337838,2	MCF-7	breast:
3	chr14:105337782..105339687-chr14:105357084..105359181,2	MCF-7	breast:
4	chr14:105331438..105333394-chr14:105486290..105488258,2	MCF-7	breast:
5	chr14:105219031..105220671-chr14:105346376..105348521,2	MCF-7	breast:
6	chr14:105347000..105348818-chr14:105354613..105356174,2	K562	blood:
7	chr14:105348429..105351330-chr14:105352853..105355749,4	MCF-7	breast:
8	chr14:105311864..105313874-chr14:105340355..105342482,2	MCF-7	breast:
9	chr14:105347000..105348818-chr14:105354613..105356174,2	K562	blood:
10	chr14:105347470..105350764-chr14:105354861..105357572,3	MCF-7	breast:
11	chr14:105348832..105350459-chr14:105350760..105352328,2	K562	blood:
12	chr14:105264148..105266055-chr14:105338238..105340290,2	K562	blood:
13	chr14:105261883..105264033-chr14:105337531..105339628,2	MCF-7	breast:
14	chr14:105349215..105352197-chr14:105846638..105849114,2	K562	blood:
15	chr14:105330056..105332621-chr14:105333447..105336321,4	K562	blood:
16	chr14:105218737..105221632-chr14:105330382..105333808,5	MCF-7	breast:
17	chr14:105232900..105235354-chr14:105346063..105347686,2	K562	blood:
18	chr14:105331733..105332483-chr22:46692142..46692982,2	Hela-S3	cervix:
19	chr12:107349163..107350048-chr14:105332332..105333107,2	Hela-S3	cervix:
20	chr14:105311809..105313743-chr14:105332493..105335026,2	K562	blood:
21	chr14:105348429..105351330-chr14:105352853..105355749,4	MCF-7	breast:
22	chr14:105207480..105209427-chr14:105330938..105333680,2	K562	blood:
23	chr14:105308114..105313218-chr14:105327481..105332918,6	MCF-7	breast:
24	chr14:105265912..105268902-chr14:105329301..105333250,7	MCF-7	breast:
25	chr14:105281635..105284024-chr14:105340547..105342098,2	MCF-7	breast:
26	chr14:105330091..105337184-chr14:105346220..105351503,12	MCF-7	breast:
27	chr14:105348765..105350400-chr14:105351876..105353640,2	MCF-7	breast:
28	chr14:105219309..105221110-chr14:105331526..105333449,2	MCF-7	breast:
29	chr14:105353151..105355417-chr14:105358751..105361227,2	K562	blood:
30	chr14:105260881..105263647-chr14:105343476..105346245,2	K562	blood:
31	chr14:105341650..105345212-chr14:105361341..105364354,4	MCF-7	breast:
32	chr14:105261442..105265036-chr14:105329931..105332556,6	MCF-7	breast:
33	chr14:105346924..105348500-chr14:105353592..105356174,2	K562	blood:
34	chr14:105261927..105264053-chr14:105340389..105343258,2	K562	blood:
35	chr14:105256932..105260148-chr14:105329998..105332768,3	MCF-7	breast:
36	chr14:105284603..105287527-chr14:105343615..105347092,3	MCF-7	breast:
37	chr14:105347470..105350764-chr14:105354861..105357572,3	MCF-7	breast:
38	chr14:105345517..105346193-chr14:105435321..105435898,2	MCF-7	breast:
39	chr14:105345637..105347359-chr14:105353237..105355891,2	MCF-7	breast:
40	chr14:105283173..105285721-chr14:105343365..105345271,2	K562	blood:
41	chr14:105331442..105333912-chr14:105397463..105399152,2	MCF-7	breast:
42	chr14:105271769..105274271-chr14:105354431..105356106,2	MCF-7	breast:
43	chr14:105241026..105242712-chr14:105333363..105335945,2	K562	blood:
44	chr14:105347472..105352873-chr14:105360965..105365202,8	MCF-7	breast:
45	chr14:105331486..105332332-chr14:105342280..105343163,3	K562	blood:
46	chr14:105330034..105333542-chr14:105435222..105437371,5	MCF-7	breast:
47	chr14:105336666..105339518-chr14:105438239..105440025,2	MCF-7	breast:
48	chr14:105340925..105344300-chr14:105357578..105360032,4	MCF-7	breast:
49	chr14:104583302..104584888-chr14:105330259..105333075,2	MCF-7	breast:
50	chr14:105285820..105287586-chr14:105330282..105332678,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AHNAK2-6	chr14:105338787-105339212	NONHSAT040303
2	lnc-AHNAK2-6	chr14:105337647-105338626	NONHSAT040303

Variant related genes	Relation type
CEP170B	TF binding region
CEP170B	CpG island
ENSG00000184990	chromatin interactions
ENSG00000260329	chromatin interactions
ENSG00000170779	chromatin interactions
ENSG00000075218	chromatin interactions
ENSG00000207568	chromatin interactions
ENSG00000099814	chromatin interactions
ENSG00000179627	chromatin interactions
ENSG00000166428	chromatin interactions
ENSG00000179364	chromatin interactions
ENSG00000258701	chromatin interactions
ENSG00000185100	chromatin interactions
ENSG00000259067	chromatin interactions
ENSG00000185567	chromatin interactions
ENSG00000151135	chromatin interactions
ENSG00000142208	chromatin interactions
ENSG00000258811	chromatin interactions
ENSG00000140104	chromatin interactions

Extended variants
information (count: 1416 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1416 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556407994	chr14:105332373-105332374	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
2	rs374441874	chr14:105332418-105332419	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
3	rs542021779	chr14:105332427-105332428	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
4	rs569495954	chr14:105332515-105332516	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs569825100	chr14:105332538-105332539	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs535545787	chr14:105332604-105332605	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs540106033	chr14:105332626-105332627	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs572034329	chr14:105332632-105332633	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs56039943	chr14:105332675-105332676	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs557443692	chr14:105332692-105332693	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs191452309	chr14:105332727-105332728	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs183658811	chr14:105332728-105332729	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs373134768	chr14:105332789-105332790	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs531834208	chr14:105332794-105332795	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs79638872	chr14:105332804-105332805	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs144147125	chr14:105332888-105332889	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs562244680	chr14:105332958-105332959	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs527762174	chr14:105332970-105332971	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs74573221	chr14:105332971-105332972	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs570721127	chr14:105332988-105332989	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs533274787	chr14:105333064-105333065	Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs550051188	chr14:105333105-105333106	Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs569961976	chr14:105333143-105333144	Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs574949129	chr14:105333197-105333198	Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs548947564	chr14:105333206-105333207	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs535684439	chr14:105333207-105333208	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs115629620	chr14:105333218-105333219	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs78092206	chr14:105333255-105333256	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs534388952	chr14:105333278-105333279	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs557745769	chr14:105333292-105333293	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs375862528	chr14:105333341-105333342	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs543011736	chr14:105333439-105333440	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs4983561	chr14:105333539-105333540	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs146067218	chr14:105333563-105333564	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs4983390	chr14:105333644-105333645	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562114079	chr14:105333683-105333684	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs138873368	chr14:105333693-105333694	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs376197906	chr14:105333729-105333730	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs541124123	chr14:105333740-105333741	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs35832735	chr14:105333943-105333944	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs187971535	chr14:105333999-105334000	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs142800428	chr14:105334015-105334016	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs150332475	chr14:105334022-105334023	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs563606038	chr14:105334044-105334045	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs529149368	chr14:105334108-105334109	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs35804712	chr14:105334122-105334123	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs111631737	chr14:105334161-105334162	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs565698390	chr14:105334174-105334175	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs2841223	chr14:105334196-105334197	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs551235164	chr14:105334207-105334208	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD

Chromatin state (count:1205 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105329800-105332600	Active TSS	Gastric	stomach
2	chr14:105329800-105333200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:105330000-105332400	Active TSS	Duodenum Mucosa	Duodenum
4	chr14:105330000-105332600	Active TSS	Rectal Mucosa Donor 31	rectum
5	chr14:105330000-105332600	Active TSS	HMEC	breast
6	chr14:105330000-105332800	Active TSS	NHEK	skin
7	chr14:105330000-105333200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr14:105330000-105333400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr14:105330000-105333400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr14:105330200-105332400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:105330200-105332600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr14:105330200-105332600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:105330200-105332600	Active TSS	Small Intestine	intestine
14	chr14:105330200-105332800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:105330200-105332800	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr14:105330200-105332800	Active TSS	Rectal Smooth Muscle	rectum
17	chr14:105330200-105333000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr14:105330400-105332600	Active TSS	H1 Cell Line	embryonic stem cell
19	chr14:105330400-105332600	Active TSS	Placenta Amnion	Placenta Amnion
20	chr14:105330600-105332600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:105330600-105332600	Active TSS	Liver	Liver
22	chr14:105330600-105332600	Active TSS	Brain Anterior Caudate	brain
23	chr14:105330600-105332800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr14:105330600-105332800	Active TSS	Brain Cingulate Gyrus	brain
25	chr14:105330600-105332800	Active TSS	Hela-S3	cervix
26	chr14:105330800-105332400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:105330800-105332400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:105330800-105332400	Active TSS	Right Atrium	heart
29	chr14:105330800-105332600	Active TSS	Pancreas	Pancrea
30	chr14:105330800-105332800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:105330800-105332800	Active TSS	Colon Smooth Muscle	Colon
32	chr14:105330800-105332800	Active TSS	A549	lung
33	chr14:105330800-105332800	Active TSS	K562	blood
34	chr14:105331000-105332600	Active TSS	Aorta	Aorta
35	chr14:105331200-105332400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:105331200-105332400	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr14:105331200-105332400	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr14:105331200-105332400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:105331200-105332400	Active TSS	Brain Hippocampus Middle	brain
40	chr14:105331200-105332400	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr14:105331200-105332400	Bivalent/Poised TSS	Fetal Stomach	stomach
42	chr14:105331200-105332600	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr14:105331200-105332600	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr14:105331200-105332600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:105331200-105332600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:105331200-105332600	Active TSS	Brain Substantia Nigra	brain
47	chr14:105331200-105332600	Active TSS	Esophagus	oesophagus
48	chr14:105331200-105332600	Active TSS	Fetal Brain Female	brain
49	chr14:105331200-105332600	Active TSS	Fetal Intestine Small	intestine
50	chr14:105331200-105332600	Active TSS	Lung	lung

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