Variant report

Variant	esv1836173
Chromosome Location	chr14:105329195-105348552
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	ARID3A	chr14:105330900-105331164	HepG2	liver:	n/a	n/a
2	ATF2	chr14:105330396-105330696	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr14:105330504-105330952	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr14:105330563-105331036	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr14:105338151-105339169	GM12878	blood:	n/a	n/a
6	BCL3	chr14:105338233-105339097	GM12878	blood:	n/a	n/a
7	BHLHE40	chr14:105332117-105332254	K562	blood:	n/a	n/a
8	BRCA1	chr14:105330583-105331276	Hela-S3	cervix:	n/a	n/a
9	CCNT2	chr14:105331578-105332342	K562	blood:	n/a	chr14:105331965-105331974
10	CEBPB	chr14:105330612-105330935	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr14:105338896-105339177	IMR90	lung:	n/a	n/a
12	CEBPB	chr14:105330296-105330832	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPD	chr14:105330886-105331250	HepG2	liver:	n/a	n/a
14	CHD1	chr14:105348520-105348722	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD1	chr14:105332060-105332361	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD1	chr14:105331057-105331245	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr14:105330580-105331038	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr14:105332266-105332284	K562	blood:	n/a	n/a
19	CHD2	chr14:105342646-105342968	Hela-S3	cervix:	n/a	n/a
20	CHD2	chr14:105332187-105332246	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr14:105330676-105331003	HepG2	liver:	n/a	n/a
22	CHD2	chr14:105337215-105337237	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr14:105330529-105331615	Hela-S3	cervix:	n/a	n/a
24	CREB1	chr14:105330553-105331043	H1-hESC	embryonic stem cell:	n/a	n/a
25	CREB1	chr14:105331395-105332291	A549	lung:	n/a	n/a
26	CREB1	chr14:105330788-105331287	A549	lung:	n/a	n/a
27	CTBP2	chr14:105330321-105331293	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTBP2	chr14:105331960-105332433	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr14:105337134-105337435	GM12891	blood:	n/a	chr14:105337409-105337422 chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
30	CTCF	chr14:105337088-105337344	A549	lung:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
31	CTCF	chr14:105337220-105337370	GM12867	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
32	CTCF	chr14:105337260-105337410	A549	lung:	n/a	chr14:105337275-105337288 chr14:105337273-105337291
33	CTCF	chr14:105337164-105337409	GM19240	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
34	CTCF	chr14:105337180-105337330	GM06990	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
35	CTCF	chr14:105345960-105346110	HCPEpiC	choroid plexus:	n/a	chr14:105345972-105345990 chr14:105345975-105345984 chr14:105345972-105345985 chr14:105345975-105345988
36	CTCF	chr14:105337196-105337357	MCF-7	breast:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
37	CTCF	chr14:105337174-105337378	GM13977	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
38	CTCF	chr14:105337200-105337350	GM12874	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
39	CTCF	chr14:105337172-105337424	GM12892	blood:	n/a	chr14:105337409-105337422 chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
40	CTCF	chr14:105345840-105345990	HepG2	liver:	n/a	chr14:105345972-105345990 chr14:105345975-105345984 chr14:105345972-105345985 chr14:105345975-105345988
41	CTCF	chr14:105337300-105337450	WI-38	lung:	n/a	chr14:105337409-105337422
42	CTCF	chr14:105345880-105346030	HRPEpiC	eye:	n/a	chr14:105345972-105345990 chr14:105345975-105345984 chr14:105345972-105345985 chr14:105345975-105345988
43	CTCF	chr14:105337131-105337361	A549	lung:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
44	CTCF	chr14:105337094-105337419	H1-hESC	embryonic stem cell:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
45	CTCF	chr14:105345900-105346050	GM12865	blood:	n/a	chr14:105345972-105345990 chr14:105345975-105345984 chr14:105345972-105345985 chr14:105345975-105345988
46	CTCF	chr14:105345920-105346070	GM12878	blood:	n/a	chr14:105345972-105345990 chr14:105345975-105345984 chr14:105345972-105345985 chr14:105345975-105345988
47	CTCF	chr14:105337193-105337373	GM10266	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
48	CTCF	chr14:105337200-105337350	AG04449	skin:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
49	CTCF	chr14:105337158-105337396	NHEK	skin:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
50	CTCF	chr14:105337180-105337330	RPTEC	kidney:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105330230-105330280	GM12892	blood:	n/a
2	chr14:105330230-105330280	GM12892	blood:	n/a
3	chr14:105344718-105344768	ovcar-3	ovarian:	n/a
4	chr14:105333334-105333384	Caco-2	colon:	n/a
5	chr14:105332600-105332650	GM12878	blood:	n/a
6	chr14:105331124-105331174	AG09319	gingival:	n/a
7	chr14:105330230-105330280	HRE	kidney:	n/a
8	chr14:105332484-105332534	HIPEpiC	eye:	n/a
9	chr14:105344591-105344641	SKMC	muscle:	n/a
10	chr14:105344591-105344641	ProgFib	skin:	n/a
11	chr14:105347803-105347853	NT2-D1	testis:	n/a
12	chr14:105333334-105333384	HCM	heart:	n/a
13	chr14:105332627-105332677	HRPEpiC	eye:	n/a
14	chr14:105331124-105331174	Hela-S3	cervix:	n/a
15	chr14:105347803-105347853	HIPEpiC	eye:	n/a
16	chr14:105330648-105330698	GM12892	blood:	n/a
17	chr14:105343597-105343647	HCF	heart:	n/a
18	chr14:105342430-105342480	HNPCEpiC	eye:	n/a
19	chr14:105331124-105331174	BE2_C	brain:	n/a
20	chr14:105344718-105344768	ECC-1	luminal epithelium:	n/a
21	chr14:105332600-105332650	T-47D	breast:	n/a
22	chr14:105333334-105333384	Hepatocyte	liver:	n/a
23	chr14:105330230-105330280	BJ	skin:	n/a
24	chr14:105330648-105330698	NHDF-neo	bronchial:	n/a
25	chr14:105332600-105332650	HCT-116	colon:	n/a
26	chr14:105343315-105343365	LNCaP	prostate:	n/a
27	chr14:105339549-105339599	SKMC	muscle:	n/a
28	chr14:105344718-105344768	BJ	skin:	n/a
29	chr14:105342430-105342480	HPAEpiC	pulmonary alveolar:	n/a
30	chr14:105332627-105332677	Hela-S3	cervix:	n/a
31	chr14:105347803-105347853	NH-A	brain:	n/a
32	chr14:105332484-105332534	HCPEpiC	choroid plexus:	n/a
33	chr14:105339549-105339599	HRPEpiC	eye:	n/a
34	chr14:105343315-105343365	HMEC	breast:	n/a
35	chr14:105343597-105343647	SAEC	small airway:	n/a
36	chr14:105332627-105332677	NT2-D1	testis:	n/a
37	chr14:105330230-105330280	AG04450	lung:	fetal
38	chr14:105334648-105334698	Hela-S3	cervix:	n/a
39	chr14:105332484-105332534	SK-N-MC	brain:	n/a
40	chr14:105344591-105344641	U87	brain:	n/a
41	chr14:105347803-105347853	ECC-1	luminal epithelium:	n/a
42	chr14:105347803-105347853	Caco-2	colon:	n/a
43	chr14:105342430-105342480	LNCaP	prostate:	n/a
44	chr14:105336144-105336194	PrEC	prostate:	n/a
45	chr14:105336144-105336194	CMK	blood:	n/a
46	chr14:105343597-105343647	NHDF-neo	bronchial:	n/a
47	chr14:105342430-105342480	PrEC	prostate:	n/a
48	chr14:105330230-105330280	SKMC	muscle:	n/a
49	chr14:105347803-105347853	RPTEC	kidney:	n/a
50	chr14:105344591-105344641	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105251130..105253358-chr14:105336625..105339105,2	MCF-7	breast:
2	chr14:105218520..105220093-chr14:105330553..105332132,2	K562	blood:
3	chr14:105330324..105332130-chr14:105360208..105362418,2	MCF-7	breast:
4	chr14:105325199..105327039-chr14:105327761..105330678,2	K562	blood:
5	chr14:105256264..105258642-chr14:105340901..105342726,2	MCF-7	breast:
6	chr14:105347472..105352873-chr14:105360965..105365202,8	MCF-7	breast:
7	chr14:105261927..105264053-chr14:105340389..105343258,2	K562	blood:
8	chr14:105332387..105333907-chr17:41398401..41400299,2	K562	blood:
9	chr14:105232900..105235354-chr14:105346063..105347686,2	K562	blood:
10	chr14:105218737..105221632-chr14:105330382..105333808,5	MCF-7	breast:
11	chr14:105337863..105340802-chr14:105451441..105454537,3	MCF-7	breast:
12	chr14:105219031..105220671-chr14:105346376..105348521,2	MCF-7	breast:
13	chr14:105250763..105252757-chr14:105330393..105333309,2	K562	blood:
14	chr12:107349163..107350048-chr14:105332332..105333107,2	Hela-S3	cervix:
15	chr14:105322733..105324801-chr14:105327014..105329537,2	K562	blood:
16	chr14:105340925..105344300-chr14:105357578..105360032,4	MCF-7	breast:
17	chr14:105329866..105333084-chr14:105347618..105350775,5	MCF-7	breast:
18	chr14:105329238..105330750-chr14:105398198..105400578,2	MCF-7	breast:
19	chr14:105329992..105332567-chr14:105443160..105445644,3	MCF-7	breast:
20	chr14:105264148..105266055-chr14:105338238..105340290,2	K562	blood:
21	chr14:105260375..105263562-chr14:105329763..105332955,5	MCF-7	breast:
22	chr14:105331733..105332483-chr22:46692142..46692982,2	Hela-S3	cervix:
23	chr14:105282326..105284059-chr14:105337774..105340057,2	MCF-7	breast:
24	chr14:105331357..105331974-chr16:475636..476384,2	Hela-S3	cervix:
25	chr14:105329781..105332832-chr14:105486734..105489071,3	MCF-7	breast:
26	chr14:105347470..105350764-chr14:105354861..105357572,3	MCF-7	breast:
27	chr14:105346758..105349135-chr14:105488164..105490065,2	MCF-7	breast:
28	chr14:105260251..105263637-chr14:105331262..105334523,4	K562	blood:
29	chr14:105287373..105290281-chr14:105329548..105332218,5	MCF-7	breast:
30	chr14:105265825..105268360-chr14:105330933..105332611,2	K562	blood:
31	chr14:105260881..105263647-chr14:105343476..105346245,2	K562	blood:
32	chr14:105330948..105331645-chr9:124131985..124132887,2	Hela-S3	cervix:
33	chr14:105170806..105173679-chr14:105343574..105346385,2	MCF-7	breast:
34	chr14:105330664..105331320-chr2:28616333..28616909,2	Hela-S3	cervix:
35	chr14:105189441..105191218-chr14:105333111..105335603,2	MCF-7	breast:
36	chr14:105283173..105285721-chr14:105343365..105345271,2	K562	blood:
37	chr14:105330034..105333542-chr14:105435222..105437371,5	MCF-7	breast:
38	chr14:105331438..105333394-chr14:105486290..105488258,2	MCF-7	breast:
39	chr14:105346924..105348500-chr14:105353592..105356174,2	K562	blood:
40	chr14:105293628..105294624-chr14:105337330..105337838,2	MCF-7	breast:
41	chr14:105336666..105339518-chr14:105438239..105440025,2	MCF-7	breast:
42	chr14:104583302..104584888-chr14:105330259..105333075,2	MCF-7	breast:
43	chr14:105330056..105332621-chr14:105333447..105336321,4	K562	blood:
44	chr14:105343975..105346931-chr14:105350690..105354607,3	K562	blood:
45	chr14:105329803..105331498-chr14:105500045..105502562,2	MCF-7	breast:
46	chr14:105281635..105284024-chr14:105340547..105342098,2	MCF-7	breast:
47	chr14:105279959..105283279-chr14:105346411..105348850,3	MCF-7	breast:
48	chr14:105277673..105279757-chr14:105329358..105331314,2	K562	blood:
49	chr14:105239791..105242217-chr14:105329726..105333005,4	MCF-7	breast:
50	chr14:105207480..105209427-chr14:105330938..105333680,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AHNAK2-6	chr14:105338787-105339212	NONHSAT040303
2	lnc-AKT1-4	chr14:105331110-105331392	NONHSAT040302
3	lnc-AKT1-4	chr14:105329920-105330291	NONHSAT040302
4	lnc-AHNAK2-6	chr14:105337647-105338626	NONHSAT040303

Variant related genes	Relation type
ENSG00000258593	TF binding region
CEP170B	TF binding region
ENSG00000258593	CpG island
CEP170B	CpG island
ENSG00000170779	chromatin interactions
ENSG00000185100	chromatin interactions
ENSG00000258811	chromatin interactions
ENSG00000099814	chromatin interactions
ENSG00000205930	chromatin interactions
ENSG00000258701	chromatin interactions
ENSG00000179627	chromatin interactions
ENSG00000260329	chromatin interactions
ENSG00000159086	chromatin interactions
ENSG00000151135	chromatin interactions
ENSG00000090565	chromatin interactions
ENSG00000148175	chromatin interactions
ENSG00000142208	chromatin interactions
ENSG00000207568	chromatin interactions
ENSG00000270141	chromatin interactions
ENSG00000184990	chromatin interactions
ENSG00000129691	chromatin interactions
ENSG00000106635	chromatin interactions
ENSG00000166428	chromatin interactions
ENSG00000203485	chromatin interactions
ENSG00000185567	chromatin interactions
ENSG00000140104	chromatin interactions
ENSG00000075218	chromatin interactions

Extended variants
information (count: 857 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560756301	chr14:105329208-105329209	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs529789807	chr14:105329243-105329244	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs540416191	chr14:105329244-105329245	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs560026872	chr14:105329268-105329269	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs532215005	chr14:105329397-105329398	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs1866827	chr14:105329426-105329427	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs568837375	chr14:105329451-105329452	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs73354355	chr14:105329462-105329463	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs118093135	chr14:105329478-105329479	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs113997858	chr14:105329506-105329507	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs72700146	chr14:105329550-105329551	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs553515163	chr14:105329593-105329594	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs1866826	chr14:105329624-105329625	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs539093579	chr14:105329648-105329649	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs546722660	chr14:105329658-105329659	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs148938652	chr14:105329663-105329664	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs544101854	chr14:105329694-105329695	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs113521057	chr14:105329714-105329715	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs574663669	chr14:105329719-105329720	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs540083729	chr14:105329722-105329723	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs552596943	chr14:105329723-105329724	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs2841220	chr14:105329758-105329759	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs545844815	chr14:105329770-105329771	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs368470284	chr14:105329778-105329779	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs531382096	chr14:105329832-105329833	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs538047620	chr14:105329902-105329903	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs548199114	chr14:105329928-105329929	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
28	rs567993737	chr14:105329980-105329981	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
29	rs548403302	chr14:105330010-105330011	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
30	rs568533767	chr14:105330030-105330031	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
31	rs2582565	chr14:105330036-105330037	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs567019200	chr14:105330120-105330121	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
33	rs551126848	chr14:105330136-105330137	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
34	rs145520458	chr14:105330138-105330139	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
35	rs199542375	chr14:105330144-105330145	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
36	rs55766645	chr14:105330145-105330146	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
37	rs55664235	chr14:105330148-105330149	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs571300977	chr14:105330230-105330231	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
39	rs552202632	chr14:105330272-105330273	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
40	rs569004552	chr14:105330335-105330336	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs59832661	chr14:105330360-105330361	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs535588557	chr14:105330384-105330385	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs574667410	chr14:105330399-105330400	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs184774864	chr14:105330403-105330404	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs551148272	chr14:105330519-105330520	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs553695570	chr14:105330583-105330584	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs576923430	chr14:105330587-105330588	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs546017924	chr14:105330601-105330602	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs562613819	chr14:105330605-105330606	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs188441904	chr14:105330611-105330612	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	13 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:1211 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105311000-105330600	Weak transcription	Right Atrium	heart
2	chr14:105320200-105330400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:105321600-105329400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr14:105323800-105330200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:105324000-105329600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:105324000-105330800	Weak transcription	Brain Substantia Nigra	brain
7	chr14:105325000-105330200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:105325800-105329600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:105327200-105329400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:105327600-105329400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:105327600-105329800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:105327600-105330200	Weak transcription	Esophagus	oesophagus
13	chr14:105327800-105329600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:105327800-105329800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:105327800-105330200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:105327800-105330200	Weak transcription	Liver	Liver
17	chr14:105327800-105330200	Weak transcription	Hela-S3	cervix
18	chr14:105328200-105329200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:105328200-105329600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:105328200-105329600	Enhancers	Stomach Mucosa	stomach
21	chr14:105328200-105330200	Enhancers	Pancreas	Pancrea
22	chr14:105328400-105330200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:105328600-105329600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:105328600-105329600	Enhancers	Colonic Mucosa	Colon
25	chr14:105328800-105329600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:105328800-105329600	Weak transcription	Gastric	stomach
27	chr14:105328800-105329600	Weak transcription	Lung	lung
28	chr14:105328800-105329800	Genic enhancers	HepG2	liver
29	chr14:105328800-105329800	Strong transcription	NHEK	skin
30	chr14:105328800-105330200	Weak transcription	A549	lung
31	chr14:105329000-105329200	Enhancers	Duodenum Mucosa	Duodenum
32	chr14:105329000-105329200	Genic enhancers	Fetal Intestine Large	intestine
33	chr14:105329000-105329200	Bivalent/Poised TSS	Fetal Lung	lung
34	chr14:105329000-105329400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:105329000-105329400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:105329000-105329600	Genic enhancers	Fetal Intestine Small	intestine
37	chr14:105329000-105329600	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr14:105329000-105329600	Genic enhancers	HMEC	breast
39	chr14:105329200-105329400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr14:105329200-105329400	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
41	chr14:105329200-105329800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr14:105329400-105329600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:105329400-105329600	Active TSS	Duodenum Mucosa	Duodenum
44	chr14:105329400-105329800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:105329400-105329800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:105329400-105329800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
47	chr14:105329400-105330000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr14:105329600-105329800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr14:105329600-105329800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:105329600-105329800	Enhancers	H9 Cell Line	embryonic stem cell

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