Variant report

Variant	nsv819585
Chromosome Location	chr14:37130627-37138654
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:352)
CpG islands
(count:1404)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:37130950-37131245	K562	blood:	n/a	n/a
2	ATF1	chr14:37130876-37131199	K562	blood:	n/a	n/a
3	BACH1	chr14:37135699-37136676	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr14:37132582-37132587	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr14:37131016-37131166	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr14:37130670-37131038	K562	blood:	n/a	n/a
7	BHLHE40	chr14:37135159-37135506	GM12878	blood:	n/a	n/a
8	BRCA1	chr14:37135867-37135974	H1-hESC	embryonic stem cell:	n/a	chr14:37135895-37135904
9	CCNT2	chr14:37136200-37136404	K562	blood:	n/a	n/a
10	CEBPB	chr14:37130822-37131269	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr14:37130984-37131165	K562	blood:	n/a	n/a
12	CHD1	chr14:37135362-37136285	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD1	chr14:37131141-37131328	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD1	chr14:37133018-37133149	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr14:37130838-37131268	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr14:37130792-37131701	Hela-S3	cervix:	n/a	n/a
17	CHD2	chr14:37135707-37136009	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr14:37130814-37131070	K562	blood:	n/a	n/a
19	CREB1	chr14:37132092-37132291	A549	lung:	n/a	n/a
20	CREB1	chr14:37130853-37131210	A549	lung:	n/a	n/a
21	CREB1	chr14:37130766-37131180	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTBP2	chr14:37135171-37136362	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTBP2	chr14:37129970-37133601	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr14:37130676-37130715	LNCaP	prostate:	n/a	n/a
25	CTCF	chr14:37131947-37132280	MCF-7	breast:	n/a	n/a
26	CTCF	chr14:37132660-37132810	SAEC	small airway:	n/a	n/a
27	CTCF	chr14:37135540-37135690	AG09319	gingival:	n/a	n/a
28	CTCF	chr14:37132022-37132109	A549	lung:	n/a	n/a
29	CTCF	chr14:37132360-37132510	SAEC	small airway:	n/a	n/a
30	CTCF	chr14:37132340-37132490	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr14:37132380-37132530	HRE	kidney:	n/a	n/a
32	CTCF	chr14:37135558-37135791	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr14:37132424-37132430	Fibrobl	skin:	n/a	n/a
34	CTCF	chr14:37132200-37132350	BJ	skin:	n/a	n/a
35	CTCF	chr14:37132320-37132470	NHEK	skin:	n/a	n/a
36	CTCF	chr14:37132340-37132490	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr14:37132280-37132430	GM12875	blood:	n/a	n/a
38	CTCF	chr14:37132406-37132421	Fibrobl	skin:	n/a	n/a
39	CTCF	chr14:37132191-37132201	NHEK	skin:	n/a	n/a
40	CTCF	chr14:37130645-37130710	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr14:37131994-37132128	MCF-7	breast:	n/a	n/a
42	CTCF	chr14:37130980-37131130	MCF-7	breast:	n/a	n/a
43	CTCF	chr14:37131950-37132143	MCF-7	breast:	n/a	n/a
44	CTCF	chr14:37132378-37132520	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr14:37132380-37132530	GM12875	blood:	n/a	n/a
46	CTCF	chr14:37132220-37132370	BJ	skin:	n/a	n/a
47	CTCF	chr14:37132320-37132470	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr14:37130617-37130749	GM12892	blood:	n/a	n/a
49	CTCF	chr14:37135560-37135710	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr14:37132360-37132510	AG09309	skin:	n/a	n/a

(count:1404 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:37133285-37133335	ECC-1	luminal epithelium:	n/a
2	chr14:37133285-37133335	ECC-1	luminal epithelium:	n/a
3	chr14:37132291-37132341	HUVEC	blood vessel:	n/a
4	chr14:37136391-37136441	A549	lung:	n/a
5	chr14:37136283-37136333	HCM	heart:	n/a
6	chr14:37136283-37136333	AG04449	skin:	fetal
7	chr14:37132665-37132715	T-47D	breast:	n/a
8	chr14:37136192-37136242	HMEC	breast:	n/a
9	chr14:37136391-37136441	LNCaP	prostate:	n/a
10	chr14:37131601-37131651	AG09319	gingival:	n/a
11	chr14:37132764-37132814	ovcar-3	ovarian:	n/a
12	chr14:37135384-37135434	T-47D	breast:	n/a
13	chr14:37131601-37131651	HPAEpiC	pulmonary alveolar:	n/a
14	chr14:37135435-37135485	NH-A	brain:	n/a
15	chr14:37133168-37133218	HRPEpiC	eye:	n/a
16	chr14:37133168-37133218	HRCEpiC	kidney:	n/a
17	chr14:37132490-37132540	AG04449	skin:	fetal
18	chr14:37136391-37136441	CMK	blood:	n/a
19	chr14:37132764-37132814	HAEpiC	amniotic membrane:	n/a
20	chr14:37131601-37131651	HCM	heart:	n/a
21	chr14:37136192-37136242	LNCaP	prostate:	n/a
22	chr14:37131008-37131058	CMK	blood:	n/a
23	chr14:37136192-37136242	CMK	blood:	n/a
24	chr14:37135384-37135434	A549	lung:	n/a
25	chr14:37132490-37132540	Caco-2	colon:	n/a
26	chr14:37136192-37136242	AG10803	skin:	n/a
27	chr14:37131998-37132048	Hela-S3	cervix:	n/a
28	chr14:37135671-37135721	NHBE	bronchial:	n/a
29	chr14:37135586-37135636	SAEC	small airway:	n/a
30	chr14:37131329-37131379	NHDF-neo	bronchial:	n/a
31	chr14:37132774-37132824	IMR90	lung:	fetal
32	chr14:37131555-37131605	AoSMC	blood vessel:	n/a
33	chr14:37135671-37135721	GM12891	blood:	n/a
34	chr14:37133116-37133166	HRE	kidney:	n/a
35	chr14:37132764-37132814	GM12878	blood:	n/a
36	chr14:37132665-37132715	BE2_C	brain:	n/a
37	chr14:37131998-37132048	HEEpiC	esophagus:	n/a
38	chr14:37131601-37131651	GM06990	blood:	n/a
39	chr14:37133168-37133218	SK-N-SH	brain:	n/a
40	chr14:37135671-37135721	GM19239	blood:	n/a
41	chr14:37132490-37132540	CMK	blood:	n/a
42	chr14:37136192-37136242	HCF	heart:	n/a
43	chr14:37136391-37136441	AG09309	skin:	n/a
44	chr14:37136283-37136333	NB4	blood:	n/a
45	chr14:37131555-37131605	NHDF-neo	bronchial:	n/a
46	chr14:37135435-37135485	HUVEC	blood vessel:	n/a
47	chr14:37133116-37133166	HCT-116	colon:	n/a
48	chr14:37131555-37131605	Hela-S3	cervix:	n/a
49	chr14:37136283-37136333	HPAEpiC	pulmonary alveolar:	n/a
50	chr14:37132490-37132540	A549	lung:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:37130417..37133311-chr14:37137384..37139390,3	K562	blood:
2	chr14:37130900..37133383-chr14:37137861..37139478,2	MCF-7	breast:
3	chr14:37129932..37131787-chr14:37640970..37642806,2	MCF-7	breast:
4	chr14:37123470..37126797-chr14:37128985..37133128,4	MCF-7	breast:
5	chr14:37137063..37138902-chr14:37139788..37142780,2	K562	blood:
6	chr14:37137915..37140307-chr14:37168447..37170126,2	MCF-7	breast:
7	chr11:62554763..62556323-chr14:37131201..37132788,2	MCF-7	breast:
8	chr14:37129600..37133163-chr14:37133957..37137315,6	K562	blood:
9	chr14:37129600..37133163-chr14:37133957..37137315,6	K562	blood:
10	chr14:37131975..37134895-chr14:37181236..37183653,2	MCF-7	breast:
11	chr14:37126435..37129205-chr14:37130244..37132576,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAX9-6	chr14:37130902-37131213	NONHSAT036445

No data

Variant related genes	Relation type
PAX9	TF binding region
ENSG00000258661	TF binding region
PAX9	CpG island
ENSG00000258661	CpG island
ENSG00000258661	chromatin interactions
ENSG00000258708	chromatin interactions
ENSG00000185475	chromatin interactions
ENSG00000183032	chromatin interactions
ENSG00000198807	chromatin interactions

Extended variants
information (count: 342 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149253330	chr14:37130641-37130642	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs73258674	chr14:37130679-37130680	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs565293280	chr14:37130693-37130694	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs533046686	chr14:37130706-37130707	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs188399036	chr14:37130740-37130741	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs2073247	chr14:37130745-37130746	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535319332	chr14:37130747-37130748	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs529085227	chr14:37130766-37130767	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs145987322	chr14:37130771-37130772	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs549241954	chr14:37130779-37130780	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs568971210	chr14:37130831-37130832	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs112791858	chr14:37130868-37130869	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs551055242	chr14:37130891-37130892	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs540112665	chr14:37130936-37130937	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
15	rs539902743	chr14:37130960-37130961	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
16	rs539974376	chr14:37130985-37130986	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
17	rs571244070	chr14:37131055-37131056	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
18	rs533579629	chr14:37131077-37131078	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
19	rs554429944	chr14:37131083-37131084	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
20	rs567657540	chr14:37131118-37131119	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
21	rs144429269	chr14:37131120-37131121	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
22	rs556338561	chr14:37131165-37131166	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
23	rs375990805	chr14:37131191-37131192	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
24	rs545501764	chr14:37131224-37131225	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs558654407	chr14:37131261-37131262	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs572384078	chr14:37131265-37131266	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs201198716	chr14:37131272-37131273	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs369190149	chr14:37131278-37131279	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs372515996	chr14:37131308-37131309	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs111641859	chr14:37131321-37131322	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs529252019	chr14:37131342-37131343	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs542796647	chr14:37131350-37131351	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs562683274	chr14:37131352-37131353	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs111762530	chr14:37131391-37131392	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs531278625	chr14:37131506-37131507	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs573185257	chr14:37131541-37131542	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs551434039	chr14:37131542-37131543	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs148493688	chr14:37131573-37131574	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs527269491	chr14:37131584-37131585	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs17104892	chr14:37131599-37131600	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs116730750	chr14:37131643-37131644	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs144143799	chr14:37131786-37131787	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs146487781	chr14:37131803-37131804	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs111435443	chr14:37131821-37131822	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs538892800	chr14:37131831-37131832	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs76125641	chr14:37131837-37131838	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs17104893	chr14:37131868-37131869	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs544392585	chr14:37131873-37131874	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs547089211	chr14:37131874-37131875	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs555005831	chr14:37131909-37131910	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Lung cancer	20031968	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Cancer	21272361	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:566 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37123400-37130800	Bivalent/Poised TSS	Fetal Thymus	thymus
2	chr14:37123400-37132000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr14:37125000-37130800	Bivalent/Poised TSS	Thymus	Thymus
4	chr14:37126200-37131400	Active TSS	Esophagus	oesophagus
5	chr14:37130000-37130800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:37130000-37133800	Bivalent Enhancer	Liver	Liver
7	chr14:37130200-37130800	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr14:37130200-37130800	Bivalent Enhancer	Lung	lung
9	chr14:37130200-37130800	Bivalent Enhancer	Stomach Mucosa	stomach
10	chr14:37130200-37131000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
11	chr14:37130200-37131000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:37130200-37131200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
13	chr14:37130200-37131200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
14	chr14:37130200-37131800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
15	chr14:37130200-37132000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:37130400-37130800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
17	chr14:37130400-37130800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
18	chr14:37130400-37130800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
19	chr14:37130400-37130800	Bivalent Enhancer	Fetal Brain Male	brain
20	chr14:37130400-37131000	Bivalent Enhancer	Placenta	Placenta
21	chr14:37130400-37131000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
22	chr14:37130400-37131200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
23	chr14:37130400-37131800	Active TSS	K562	blood
24	chr14:37130400-37132200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:37130400-37132400	Active TSS	A549	lung
26	chr14:37130400-37132600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:37130400-37132800	Bivalent Enhancer	Fetal Heart	heart
28	chr14:37130400-37133400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
29	chr14:37130400-37133400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
30	chr14:37130400-37133600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr14:37130400-37133600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:37130600-37130800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
33	chr14:37130600-37130800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:37130600-37130800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:37130600-37130800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:37130600-37130800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:37130600-37130800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
38	chr14:37130600-37130800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
39	chr14:37130600-37130800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
40	chr14:37130600-37130800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:37130600-37130800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
42	chr14:37130600-37130800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
43	chr14:37130600-37130800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:37130600-37130800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:37130600-37130800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
46	chr14:37130600-37130800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
47	chr14:37130600-37130800	Bivalent Enhancer	Fetal Intestine Small	intestine
48	chr14:37130600-37130800	Bivalent Enhancer	Left Ventricle	heart
49	chr14:37130600-37130800	Bivalent Enhancer	HepG2	liver
50	chr14:37130600-37130800	Bivalent/Poised TSS	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links