Variant report

Variant	nsv566123
Chromosome Location	chr14:105331370-105347488
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	chr14:105338151-105339169	GM12878	blood:	n/a	n/a
2	BCL3	chr14:105338233-105339097	GM12878	blood:	n/a	n/a
3	BHLHE40	chr14:105332117-105332254	K562	blood:	n/a	n/a
4	CCNT2	chr14:105331578-105332342	K562	blood:	n/a	chr14:105331965-105331974
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	CHD2	chr14:105332187-105332246	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr14:105342646-105342968	Hela-S3	cervix:	n/a	n/a
9	CHD2	chr14:105332266-105332284	K562	blood:	n/a	n/a
10	CHD2	chr14:105337215-105337237	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr14:105330529-105331615	Hela-S3	cervix:	n/a	n/a
12	CREB1	chr14:105331395-105332291	A549	lung:	n/a	n/a
13	CTBP2	chr14:105331960-105332433	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr14:105337165-105337377	GM19239	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
15	CTCF	chr14:105345900-105346050	GM12865	blood:	n/a	chr14:105345972-105345990 chr14:105345975-105345984 chr14:105345972-105345985 chr14:105345975-105345988
16	CTCF	chr14:105331260-105331410	NHEK	skin:	n/a	chr14:105331271-105331284
17	CTCF	chr14:105337115-105337452	K562	blood:	n/a	chr14:105337409-105337422 chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
18	CTCF	chr14:105337240-105337390	HA-sp	spinal cord:	n/a	chr14:105337275-105337288 chr14:105337273-105337291
19	CTCF	chr14:105337186-105337393	GM12878	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
20	CTCF	chr14:105345900-105346050	GM06990	blood:	n/a	chr14:105345972-105345990 chr14:105345975-105345984 chr14:105345972-105345985 chr14:105345975-105345988
21	CTCF	chr14:105337160-105337310	HCM	heart:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
22	CTCF	chr14:105338740-105338812	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr14:105337200-105337350	GM12868	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
24	CTCF	chr14:105337200-105337350	GM12872	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
25	CTCF	chr14:105337220-105337370	AG04450	lung:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
26	CTCF	chr14:105337180-105337330	RPTEC	kidney:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
27	CTCF	chr14:105337190-105337359	HUVEC	blood vessel:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
28	CTCF	chr14:105345950-105346013	Hela-S3	cervix:	n/a	chr14:105345972-105345990 chr14:105345975-105345984 chr14:105345972-105345985 chr14:105345975-105345988
29	CTCF	chr14:105345920-105346070	HBMEC	blood vessel:	n/a	chr14:105345972-105345990 chr14:105345975-105345984 chr14:105345972-105345985 chr14:105345975-105345988
30	CTCF	chr14:105338449-105338919	GM19239	blood:	n/a	n/a
31	CTCF	chr14:105338535-105338695	MCF-7	breast:	n/a	n/a
32	CTCF	chr14:105345880-105346030	GM12875	blood:	n/a	chr14:105345972-105345990 chr14:105345975-105345984 chr14:105345972-105345985 chr14:105345975-105345988
33	CTCF	chr14:105345860-105346010	GM12864	blood:	n/a	chr14:105345972-105345990 chr14:105345975-105345984 chr14:105345972-105345985 chr14:105345975-105345988
34	CTCF	chr14:105337200-105337350	HEEpiC	esophagus:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
35	CTCF	chr14:105337240-105337390	BE2_C	brain:	n/a	chr14:105337275-105337288 chr14:105337273-105337291
36	CTCF	chr14:105337220-105337370	Hela-S3	cervix:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
37	CTCF	chr14:105337220-105337370	RPTEC	kidney:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
38	CTCF	chr14:105337520-105337670	K562	blood:	n/a	chr14:105337579-105337592
39	CTCF	chr14:105338550-105338839	GM12891	blood:	n/a	n/a
40	CTCF	chr14:105345860-105346010	BE2_C	brain:	n/a	chr14:105345972-105345990 chr14:105345975-105345984 chr14:105345972-105345985 chr14:105345975-105345988
41	CTCF	chr14:105337180-105337330	BE2_C	brain:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
42	CTCF	chr14:105337160-105337310	K562	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
43	CTCF	chr14:105337200-105337350	HPAF	blood vessel:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
44	CTCF	chr14:105337260-105337410	A549	lung:	n/a	chr14:105337275-105337288 chr14:105337273-105337291
45	CTCF	chr14:105337186-105337388	LNCaP	prostate:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
46	CTCF	chr14:105337191-105337369	HepG2	liver:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
47	CTCF	chr14:105337200-105337350	HAc	cerebellar:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
48	CTCF	chr14:105337189-105337399	Spleen_OC	spleen:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
49	CTCF	chr14:105345900-105346050	MCF-7	breast:	n/a	chr14:105345972-105345990 chr14:105345975-105345984 chr14:105345972-105345985 chr14:105345975-105345988
50	CTCF	chr14:105337200-105337350	MCF-7	breast:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105344718-105344768	HPAEpiC	pulmonary alveolar:	n/a
2	chr14:105333334-105333384	GM06990	blood:	n/a
3	chr14:105339549-105339599	NHBE	bronchial:	n/a
4	chr14:105332627-105332677	MCF10A-Er-Src	breast:	n/a
5	chr14:105333334-105333384	RPTEC	kidney:	n/a
6	chr14:105343315-105343365	MCF-7	breast:	n/a
7	chr14:105339549-105339599	U87	brain:	n/a
8	chr14:105334648-105334698	IMR90	lung:	fetal
9	chr14:105342430-105342480	T-47D	breast:	n/a
10	chr14:105344718-105344768	AoSMC	blood vessel:	n/a
11	chr14:105333334-105333384	HNPCEpiC	eye:	n/a
12	chr14:105333334-105333384	GM12891	blood:	n/a
13	chr14:105332484-105332534	GM06990	blood:	n/a
14	chr14:105334648-105334698	NT2-D1	testis:	n/a
15	chr14:105334648-105334698	HRCEpiC	kidney:	n/a
16	chr14:105344591-105344641	ProgFib	skin:	n/a
17	chr14:105342430-105342480	Jurkat	blood:	n/a
18	chr14:105344591-105344641	CMK	blood:	n/a
19	chr14:105342430-105342480	NH-A	brain:	n/a
20	chr14:105342430-105342480	GM12892	blood:	n/a
21	chr14:105343315-105343365	Jurkat	blood:	n/a
22	chr14:105333334-105333384	HIPEpiC	eye:	n/a
23	chr14:105336144-105336194	SK-N-MC	brain:	n/a
24	chr14:105342430-105342480	ovcar-3	ovarian:	n/a
25	chr14:105334648-105334698	AG04450	lung:	fetal
26	chr14:105344591-105344641	NT2-D1	testis:	n/a
27	chr14:105336144-105336194	NB4	blood:	n/a
28	chr14:105332484-105332534	AG09309	skin:	n/a
29	chr14:105344761-105344811	A549	lung:	n/a
30	chr14:105336144-105336194	AG09319	gingival:	n/a
31	chr14:105344718-105344768	SAEC	small airway:	n/a
32	chr14:105344718-105344768	SK-N-MC	brain:	n/a
33	chr14:105332627-105332677	AG09309	skin:	n/a
34	chr14:105342430-105342480	Hela-S3	cervix:	n/a
35	chr14:105333334-105333384	HCT-116	colon:	n/a
36	chr14:105332484-105332534	AG10803	skin:	n/a
37	chr14:105343315-105343365	HPAEpiC	pulmonary alveolar:	n/a
38	chr14:105343597-105343647	PANC-1	pancreas:	n/a
39	chr14:105332600-105332650	Hepatocyte	liver:	n/a
40	chr14:105332627-105332677	HCM	heart:	n/a
41	chr14:105342430-105342480	NHBE	bronchial:	n/a
42	chr14:105333334-105333384	AoSMC	blood vessel:	n/a
43	chr14:105343315-105343365	HCPEpiC	choroid plexus:	n/a
44	chr14:105339549-105339599	HRPEpiC	eye:	n/a
45	chr14:105332627-105332677	ovcar-3	ovarian:	n/a
46	chr14:105344591-105344641	HRCEpiC	kidney:	n/a
47	chr14:105334648-105334698	ovcar-3	ovarian:	n/a
48	chr14:105332484-105332534	HIPEpiC	eye:	n/a
49	chr14:105344718-105344768	HEEpiC	esophagus:	n/a
50	chr14:105332600-105332650	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105347470..105350764-chr14:105354861..105357572,3	MCF-7	breast:
2	chr14:105337782..105339687-chr14:105357084..105359181,2	MCF-7	breast:
3	chr14:105247569..105249557-chr14:105347096..105349716,2	K562	blood:
4	chr14:105340925..105344300-chr14:105357578..105360032,4	MCF-7	breast:
5	chr14:105282326..105284059-chr14:105337774..105340057,2	MCF-7	breast:
6	chr14:105170806..105173679-chr14:105343574..105346385,2	MCF-7	breast:
7	chr14:105346924..105348500-chr14:105353592..105356174,2	K562	blood:
8	chr14:105337863..105340802-chr14:105451441..105454537,3	MCF-7	breast:
9	chr14:105260411..105262447-chr14:105335972..105338023,2	MCF-7	breast:
10	chr14:105336440..105340478-chr14:105340944..105342699,3	MCF-7	breast:
11	chr14:105311864..105313874-chr14:105340355..105342482,2	MCF-7	breast:
12	chr14:105260375..105263562-chr14:105329763..105332955,5	MCF-7	breast:
13	chr14:105331733..105332483-chr22:46692142..46692982,2	Hela-S3	cervix:
14	chr14:105331438..105333394-chr14:105486290..105488258,2	MCF-7	breast:
15	chr14:105308114..105313218-chr14:105327481..105332918,6	MCF-7	breast:
16	chr14:105218520..105220093-chr14:105330553..105332132,2	K562	blood:
17	chr14:105256932..105260148-chr14:105329998..105332768,3	MCF-7	breast:
18	chr14:105331486..105332332-chr14:105342280..105343163,3	K562	blood:
19	chr14:105329992..105332567-chr14:105443160..105445644,3	MCF-7	breast:
20	chr14:105260881..105263647-chr14:105343476..105346245,2	K562	blood:
21	chr14:105218593..105220961-chr14:105330031..105332053,2	K562	blood:
22	chr14:105189491..105192321-chr14:105330355..105333549,3	MCF-7	breast:
23	chr14:105346758..105349135-chr14:105488164..105490065,2	MCF-7	breast:
24	chr14:105264148..105266055-chr14:105338238..105340290,2	K562	blood:
25	chr14:105260251..105263637-chr14:105331262..105334523,4	K562	blood:
26	chr14:105332387..105333907-chr17:41398401..41400299,2	K562	blood:
27	chr14:105347000..105348818-chr14:105354613..105356174,2	K562	blood:
28	chr14:105285820..105287586-chr14:105330282..105332678,2	MCF-7	breast:
29	chr14:105330034..105333542-chr14:105435222..105437371,5	MCF-7	breast:
30	chr14:105330091..105337184-chr14:105346220..105351503,12	MCF-7	breast:
31	chr14:105336440..105340478-chr14:105340944..105342699,3	MCF-7	breast:
32	chr14:105345517..105346193-chr14:105435321..105435898,2	MCF-7	breast:
33	chr14:105219309..105221110-chr14:105331526..105333449,2	MCF-7	breast:
34	chr14:105293628..105294624-chr14:105337330..105337838,2	MCF-7	breast:
35	chr14:105218737..105221632-chr14:105330382..105333808,5	MCF-7	breast:
36	chr14:105261883..105264033-chr14:105337531..105339628,2	MCF-7	breast:
37	chr14:105330661..105332395-chr14:105435326..105436995,2	MCF-7	breast:
38	chr14:105336757..105339297-chr14:105435240..105438194,2	MCF-7	breast:
39	chr14:105207480..105209427-chr14:105330938..105333680,2	K562	blood:
40	chr14:105155136..105157307-chr14:105329558..105331716,2	MCF-7	breast:
41	chr14:105330324..105332130-chr14:105360208..105362418,2	MCF-7	breast:
42	chr14:105283173..105285721-chr14:105343365..105345271,2	K562	blood:
43	chr14:105250763..105252757-chr14:105330393..105333309,2	K562	blood:
44	chr14:105330948..105331645-chr9:124131985..124132887,2	Hela-S3	cervix:
45	chr14:105272275..105274283-chr14:105332253..105335339,3	MCF-7	breast:
46	chr14:105329781..105332832-chr14:105486734..105489071,3	MCF-7	breast:
47	chr14:105343975..105346931-chr14:105350690..105354607,3	K562	blood:
48	chr14:105331357..105331974-chr16:475636..476384,2	Hela-S3	cervix:
49	chr14:105251130..105253358-chr14:105336625..105339105,2	MCF-7	breast:
50	chr14:104583302..104584888-chr14:105330259..105333075,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKT1-4	chr14:105331110-105331392	NONHSAT040302
2	lnc-AHNAK2-6	chr14:105338787-105339212	NONHSAT040303
3	lnc-AHNAK2-6	chr14:105337647-105338626	NONHSAT040303

Variant related genes	Relation type
CEP170B	TF binding region
CEP170B	CpG island
ENSG00000258701	chromatin interactions
ENSG00000170779	chromatin interactions
ENSG00000129691	chromatin interactions
ENSG00000203485	chromatin interactions
ENSG00000179627	chromatin interactions
ENSG00000166428	chromatin interactions
ENSG00000184990	chromatin interactions
ENSG00000099814	chromatin interactions
ENSG00000207568	chromatin interactions
ENSG00000140104	chromatin interactions
ENSG00000185567	chromatin interactions
ENSG00000090565	chromatin interactions
ENSG00000258811	chromatin interactions
ENSG00000270141	chromatin interactions
ENSG00000151135	chromatin interactions
ENSG00000185100	chromatin interactions
ENSG00000260329	chromatin interactions
ENSG00000106635	chromatin interactions
ENSG00000148175	chromatin interactions
ENSG00000075218	chromatin interactions
ENSG00000159086	chromatin interactions
ENSG00000142208	chromatin interactions
ENSG00000205930	chromatin interactions

Extended variants
information (count: 716 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:716 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576225070	chr14:105331447-105331448	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
2	rs8008126	chr14:105331457-105331458	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs2841221	chr14:105331466-105331467	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs2841222	chr14:105331483-105331484	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
5	rs571958317	chr14:105331487-105331488	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
6	rs540664791	chr14:105331488-105331489	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
7	rs185665842	chr14:105331497-105331498	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
8	rs548529289	chr14:105331728-105331729	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs560879514	chr14:105331823-105331824	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs2582564	chr14:105331835-105331836	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs112614583	chr14:105331845-105331846	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs2582563	chr14:105331893-105331894	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs562710870	chr14:105331964-105331965	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs72635202	chr14:105332001-105332002	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs548231422	chr14:105332041-105332042	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs568459265	chr14:105332056-105332057	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs112110462	chr14:105332091-105332092	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs527726822	chr14:105332128-105332129	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs547459146	chr14:105332139-105332140	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs377318497	chr14:105332242-105332243	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs112746707	chr14:105332251-105332252	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs570751738	chr14:105332292-105332293	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs189313437	chr14:105332298-105332299	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:948 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

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	chr14:105330200-105331400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:105330200-105331400	Bivalent/Poised TSS	HSMM	muscle
12	chr14:105330200-105332400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:105330200-105332600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr14:105330200-105332600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:105330200-105332600	Active TSS	Small Intestine	intestine
16	chr14:105330200-105332800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:105330200-105332800	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr14:105330200-105332800	Active TSS	Rectal Smooth Muscle	rectum
19	chr14:105330200-105333000	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr14:105330400-105331400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:105330400-105331400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr14:105330400-105332600	Active TSS	H1 Cell Line	embryonic stem cell
23	chr14:105330400-105332600	Active TSS	Placenta Amnion	Placenta Amnion
24	chr14:105330600-105331400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:105330600-105331400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:105330600-105331400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
27	chr14:105330600-105332000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr14:105330600-105332600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:105330600-105332600	Active TSS	Liver	Liver
30	chr14:105330600-105332600	Active TSS	Brain Anterior Caudate	brain
31	chr14:105330600-105332800	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr14:105330600-105332800	Active TSS	Brain Cingulate Gyrus	brain
33	chr14:105330600-105332800	Active TSS	Hela-S3	cervix
34	chr14:105330800-105331400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:105330800-105331400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr14:105330800-105331400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr14:105330800-105331400	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr14:105330800-105331400	Flanking Active TSS	Ovary	ovary
39	chr14:105330800-105332000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:105330800-105332000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:105330800-105332400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:105330800-105332400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:105330800-105332400	Active TSS	Right Atrium	heart
44	chr14:105330800-105332600	Active TSS	Pancreas	Pancrea
45	chr14:105330800-105332800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:105330800-105332800	Active TSS	Colon Smooth Muscle	Colon
47	chr14:105330800-105332800	Active TSS	A549	lung
48	chr14:105330800-105332800	Active TSS	K562	blood
49	chr14:105331000-105331400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:105331000-105331400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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