Variant report

Variant	nsv498084
Chromosome Location	chr14:37131404-37141112
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:227)
CpG islands
(count:1225)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:227 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr14:37132582-37132587	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr14:37135699-37136676	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr14:37135159-37135506	GM12878	blood:	n/a	n/a
4	BRCA1	chr14:37135867-37135974	H1-hESC	embryonic stem cell:	n/a	chr14:37135895-37135904
5	CCNT2	chr14:37136200-37136404	K562	blood:	n/a	n/a
6	CHD1	chr14:37133018-37133149	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD1	chr14:37135362-37136285	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr14:37135707-37136009	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr14:37130792-37131701	Hela-S3	cervix:	n/a	n/a
10	CREB1	chr14:37132092-37132291	A549	lung:	n/a	n/a
11	CTBP2	chr14:37129970-37133601	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTBP2	chr14:37135171-37136362	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr14:37132280-37132570	AG09319	gingival:	n/a	n/a
14	CTCF	chr14:37132000-37132150	AG04449	skin:	n/a	n/a
15	CTCF	chr14:37132340-37132490	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr14:37132320-37132470	HMEC	breast:	n/a	n/a
17	CTCF	chr14:37135640-37135790	AG09319	gingival:	n/a	n/a
18	CTCF	chr14:37132441-37132480	NHEK	skin:	n/a	n/a
19	CTCF	chr14:37132406-37132421	Fibrobl	skin:	n/a	n/a
20	CTCF	chr14:37132320-37132470	HBMEC	blood vessel:	n/a	n/a
21	CTCF	chr14:37132320-37132470	AG10803	skin:	n/a	n/a
22	CTCF	chr14:37132110-37132113	A549	lung:	n/a	n/a
23	CTCF	chr14:37132060-37132210	MCF-7	breast:	n/a	n/a
24	CTCF	chr14:37132360-37132510	HMF	breast:	n/a	n/a
25	CTCF	chr14:37132300-37132450	SAEC	small airway:	n/a	n/a
26	CTCF	chr14:37132424-37132430	Fibrobl	skin:	n/a	n/a
27	CTCF	chr14:37132191-37132201	NHEK	skin:	n/a	n/a
28	CTCF	chr14:37135558-37135791	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr14:37135520-37135670	HepG2	liver:	n/a	chr14:37135526-37135544
30	CTCF	chr14:37132320-37132470	NHEK	skin:	n/a	n/a
31	CTCF	chr14:37132040-37132190	A549	lung:	n/a	n/a
32	CTCF	chr14:37140440-37140509	Lung_OC	lung:	n/a	n/a
33	CTCF	chr14:37132380-37132530	HFF	foreskin:	n/a	n/a
34	CTCF	chr14:37131994-37132128	MCF-7	breast:	n/a	n/a
35	CTCF	chr14:37132340-37132490	AG04449	skin:	n/a	n/a
36	CTCF	chr14:37132380-37132530	HRE	kidney:	n/a	n/a
37	CTCF	chr14:37135625-37135723	GM19238	blood:	n/a	n/a
38	CTCF	chr14:37131947-37132280	MCF-7	breast:	n/a	n/a
39	CTCF	chr14:37135540-37135690	AG09319	gingival:	n/a	n/a
40	CTCF	chr14:37131965-37132202	MCF-7	breast:	n/a	n/a
41	CTCF	chr14:37131920-37132070	MCF-7	breast:	n/a	n/a
42	CTCF	chr14:37132380-37132530	HA-sp	spinal cord:	n/a	n/a
43	CTCF	chr14:37131956-37132223	MCF-7	breast:	n/a	n/a
44	CTCF	chr14:37132393-37132468	MCF-7	breast:	n/a	n/a
45	CTCF	chr14:37132220-37132370	BJ	skin:	n/a	n/a
46	CTCF	chr14:37132340-37132490	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr14:37132320-37132470	AG04449	skin:	n/a	n/a
48	CTCF	chr14:37131950-37132143	MCF-7	breast:	n/a	n/a
49	CTCF	chr14:37132360-37132510	SAEC	small airway:	n/a	n/a
50	CTCF	chr14:37132388-37132466	ProgFib	skin:	n/a	n/a

(count:1225 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:37133168-37133218	U87	brain:	n/a
2	chr14:37132291-37132341	GM12878	blood:	n/a
3	chr14:37136192-37136242	ProgFib	skin:	n/a
4	chr14:37135384-37135434	U87	brain:	n/a
5	chr14:37136391-37136441	HEEpiC	esophagus:	n/a
6	chr14:37133168-37133218	U87	brain:	n/a
7	chr14:37132291-37132341	GM12878	blood:	n/a
8	chr14:37136192-37136242	ProgFib	skin:	n/a
9	chr14:37135384-37135434	U87	brain:	n/a
10	chr14:37136391-37136441	HEEpiC	esophagus:	n/a
11	chr14:37135898-37135948	HUVEC	blood vessel:	n/a
12	chr14:37133168-37133218	AG09309	skin:	n/a
13	chr14:37133285-37133335	HL-60	blood:	n/a
14	chr14:37133285-37133335	Hepatocyte	liver:	n/a
15	chr14:37135435-37135485	BE2_C	brain:	n/a
16	chr14:37132764-37132814	T-47D	breast:	n/a
17	chr14:37135384-37135434	AG09319	gingival:	n/a
18	chr14:37136391-37136441	CMK	blood:	n/a
19	chr14:37133285-37133335	BJ	skin:	n/a
20	chr14:37132774-37132824	NHBE	bronchial:	n/a
21	chr14:37132764-37132814	RPTEC	kidney:	n/a
22	chr14:37135586-37135636	HCM	heart:	n/a
23	chr14:37136192-37136242	AG09319	gingival:	n/a
24	chr14:37131601-37131651	BE2_C	brain:	n/a
25	chr14:37133714-37133764	T-47D	breast:	n/a
26	chr14:37131998-37132048	SK-N-MC	brain:	n/a
27	chr14:37135384-37135434	Jurkat	blood:	n/a
28	chr14:37131601-37131651	Hela-S3	cervix:	n/a
29	chr14:37131998-37132048	CMK	blood:	n/a
30	chr14:37135586-37135636	ProgFib	skin:	n/a
31	chr14:37131998-37132048	SKMC	muscle:	n/a
32	chr14:37132774-37132824	HRE	kidney:	n/a
33	chr14:37133116-37133166	Jurkat	blood:	n/a
34	chr14:37132665-37132715	HEEpiC	esophagus:	n/a
35	chr14:37135586-37135636	ECC-1	luminal epithelium:	n/a
36	chr14:37132774-37132824	NB4	blood:	n/a
37	chr14:37132490-37132540	HL-60	blood:	n/a
38	chr14:37132774-37132824	Caco-2	colon:	n/a
39	chr14:37135435-37135485	GM12892	blood:	n/a
40	chr14:37133714-37133764	IMR90	lung:	fetal
41	chr14:37133285-37133335	CMK	blood:	n/a
42	chr14:37135671-37135721	MCF-7	breast:	n/a
43	chr14:37135898-37135948	Caco-2	colon:	n/a
44	chr14:37133168-37133218	CMK	blood:	n/a
45	chr14:37135586-37135636	PFSK-1	brain:	n/a
46	chr14:37135586-37135636	BJ	skin:	n/a
47	chr14:37136192-37136242	AG04449	skin:	fetal
48	chr14:37135435-37135485	MCF10A-Er-Src	breast:	n/a
49	chr14:37135898-37135948	HCT-116	colon:	n/a
50	chr14:37133714-37133764	GM06990	blood:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:37131975..37134895-chr14:37181236..37183653,2	MCF-7	breast:
2	chr11:62554763..62556323-chr14:37131201..37132788,2	MCF-7	breast:
3	chr14:37130107..37132544-chr14:37141095..37142957,2	K562	blood:
4	chr14:37129600..37133163-chr14:37133957..37137315,6	K562	blood:
5	chr14:37130900..37133383-chr14:37137861..37139478,2	MCF-7	breast:
6	chr14:37126435..37129205-chr14:37130244..37132576,2	K562	blood:
7	chr14:37137063..37138902-chr14:37139788..37142780,2	K562	blood:
8	chr14:37137915..37140307-chr14:37168447..37170126,2	MCF-7	breast:
9	chr14:37123470..37126797-chr14:37128985..37133128,4	MCF-7	breast:
10	chr14:37137063..37138902-chr14:37139788..37142780,2	K562	blood:
11	chr14:37130417..37133311-chr14:37137384..37139390,3	K562	blood:
12	chr14:37129600..37133163-chr14:37133957..37137315,6	K562	blood:
13	chr14:37129932..37131787-chr14:37640970..37642806,2	MCF-7	breast:

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
ENSG00000198807	chromatin interactions
ENSG00000183032	chromatin interactions
ENSG00000185475	chromatin interactions

Extended variants
information (count: 399 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	rs562679917	chr14:37131920-37131921	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
18	rs367721059	chr14:37131957-37131958	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
19	rs573942689	chr14:37131972-37131973	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
20	rs12883298	chr14:37131993-37131994	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
21	rs17104895	chr14:37132020-37132021	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs576169642	chr14:37132026-37132027	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs35510737	chr14:37132029-37132030	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs544915305	chr14:37132047-37132048	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs12882923	chr14:37132048-37132049	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs12883049	chr14:37132061-37132062	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs200183790	chr14:37132068-37132069	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs369777392	chr14:37132069-37132070	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs546945701	chr14:37132070-37132071	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs560563987	chr14:37132072-37132073	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs530304091	chr14:37132120-37132121	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs146561842	chr14:37132127-37132128	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs28933970	chr14:37132159-37132160	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs28933972	chr14:37132173-37132174	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs28933971	chr14:37132180-37132181	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs550043289	chr14:37132191-37132192	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs121917720	chr14:37132236-37132237	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs104894469	chr14:37132248-37132249	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs200418409	chr14:37132253-37132254	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs200688741	chr14:37132289-37132290	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs372642425	chr14:37132307-37132308	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs554109934	chr14:37132334-37132335	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs104894468	chr14:37132356-37132357	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs28933373	chr14:37132368-37132369	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs539215047	chr14:37132391-37132392	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs375546483	chr14:37132434-37132435	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs104894467	chr14:37132437-37132438	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs139008563	chr14:37132525-37132526	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs369478673	chr14:37132537-37132538	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs201901512	chr14:37132556-37132557	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	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:463 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37123400-37132000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:37130000-37133800	Bivalent Enhancer	Liver	Liver
3	chr14:37130200-37131800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
4	chr14:37130200-37132000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:37130400-37131800	Active TSS	K562	blood
6	chr14:37130400-37132200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
7	chr14:37130400-37132400	Active TSS	A549	lung
8	chr14:37130400-37132600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:37130400-37132800	Bivalent Enhancer	Fetal Heart	heart
10	chr14:37130400-37133400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
11	chr14:37130400-37133400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
12	chr14:37130400-37133600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr14:37130400-37133600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:37130600-37131600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr14:37130600-37131600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:37130600-37131600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:37130600-37131600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:37130600-37131600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
19	chr14:37130600-37131600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:37130600-37131600	Active TSS	Pancreas	Pancrea
21	chr14:37130600-37131600	Bivalent/Poised TSS	HMEC	breast
22	chr14:37130600-37131600	Bivalent/Poised TSS	NHEK	skin
23	chr14:37130600-37131800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
24	chr14:37130600-37131800	Bivalent/Poised TSS	Psoas Muscle	Psoas
25	chr14:37130600-37132000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:37130600-37132000	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:37130600-37132000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:37130600-37132000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:37130600-37132400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
30	chr14:37130600-37132800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:37130600-37132800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
32	chr14:37130600-37132800	Active TSS	Hela-S3	cervix
33	chr14:37130600-37133000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
34	chr14:37130600-37133400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
35	chr14:37130600-37133600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
38	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
39	chr14:37130600-37133800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr14:37130800-37131600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:37130800-37131600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr14:37130800-37131600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:37130800-37131600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
44	chr14:37130800-37131600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
45	chr14:37130800-37131800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
46	chr14:37130800-37131800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:37130800-37131800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:37130800-37131800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
49	chr14:37130800-37131800	Bivalent/Poised TSS	NHLF	lung
50	chr14:37130800-37132000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell

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