Variant report

Variant	nsv565988
Chromosome Location	chr14:103986456-103988444
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	ATF2	chr14:103986476-103986808	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr14:103988336-103988583	H1-hESC	embryonic stem cell:	n/a	chr14:103988542-103988553
3	ATF2	chr14:103988379-103988859	H1-hESC	embryonic stem cell:	n/a	chr14:103988542-103988553
4	ATF2	chr14:103987498-103987915	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr14:103986948-103987442	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr14:103987355-103987668	A549	lung:	n/a	n/a
7	ATF3	chr14:103987909-103988173	K562	blood:	n/a	chr14:103988031-103988040 chr14:103988063-103988083 chr14:103987981-103987990
8	BACH1	chr14:103987332-103987746	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL3	chr14:103986942-103987242	A549	lung:	n/a	n/a
10	BCL3	chr14:103986975-103987854	A549	lung:	n/a	chr14:103987797-103987810 chr14:103987254-103987263
11	BCLAF1	chr14:103987345-103987665	GM12878	blood:	n/a	n/a
12	BHLHE40	chr14:103987177-103988209	K562	blood:	n/a	chr14:103988055-103988071 chr14:103987797-103987813
13	BHLHE40	chr14:103988110-103988137	GM12878	blood:	n/a	n/a
14	BHLHE40	chr14:103987405-103987775	GM12878	blood:	n/a	n/a
15	BRCA1	chr14:103987455-103987708	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr14:103987042-103987697	Hela-S3	cervix:	n/a	n/a
17	CBX3	chr14:103987426-103987772	K562	blood:	n/a	n/a
18	CCNT2	chr14:103986330-103986496	K562	blood:	n/a	n/a
19	CCNT2	chr14:103986744-103989391	K562	blood:	n/a	chr14:103988517-103988526 chr14:103987325-103987334 chr14:103987516-103987525 chr14:103988030-103988050
20	CEBPB	chr14:103987473-103987629	Hela-S3	cervix:	n/a	n/a
21	CHD1	chr14:103988003-103988258	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr14:103987267-103987751	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr14:103987196-103987772	K562	blood:	n/a	n/a
24	CHD2	chr14:103987098-103987790	GM12878	blood:	n/a	n/a
25	CHD2	chr14:103988400-103988739	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr14:103987011-103987046	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr14:103988408-103988749	K562	blood:	n/a	n/a
28	CHD2	chr14:103986970-103988080	Hela-S3	cervix:	n/a	n/a
29	CREB1	chr14:103987028-103988249	K562	blood:	n/a	n/a
30	CREB1	chr14:103988311-103989490	HepG2	liver:	n/a	chr14:103988541-103988554
31	CREB1	chr14:103986986-103988880	A549	lung:	n/a	chr14:103988541-103988554
32	CREB1	chr14:103987478-103988279	K562	blood:	n/a	n/a
33	CREB1	chr14:103988378-103988864	K562	blood:	n/a	chr14:103988541-103988554
34	CREB1	chr14:103987004-103988977	H1-hESC	embryonic stem cell:	n/a	chr14:103988541-103988554
35	CREB1	chr14:103987072-103988862	H1-hESC	embryonic stem cell:	n/a	chr14:103988541-103988554
36	CTCF	chr14:103987180-103987330	GM12870	blood:	n/a	n/a
37	CTCF	chr14:103987287-103987805	MCF-7	breast:	n/a	chr14:103987432-103987445 chr14:103987570-103987586 chr14:103987572-103987585 chr14:103987569-103987587
38	CTCF	chr14:103987460-103987610	HCM	heart:	n/a	chr14:103987570-103987586 chr14:103987572-103987585 chr14:103987569-103987587
39	CTCF	chr14:103987420-103987725	GM10266	blood:	n/a	chr14:103987432-103987445 chr14:103987570-103987586 chr14:103987572-103987585 chr14:103987569-103987587
40	CTCF	chr14:103987480-103987630	GM06990	blood:	n/a	chr14:103987570-103987586 chr14:103987572-103987585 chr14:103987569-103987587
41	CTCF	chr14:103987460-103987610	NHLF	lung:	n/a	chr14:103987570-103987586 chr14:103987572-103987585 chr14:103987569-103987587
42	CTCF	chr14:103987327-103987785	H1-hESC	embryonic stem cell:	n/a	chr14:103987432-103987445 chr14:103987570-103987586 chr14:103987572-103987585 chr14:103987569-103987587
43	CTCF	chr14:103987500-103987650	AG04449	skin:	n/a	chr14:103987570-103987586 chr14:103987572-103987585 chr14:103987569-103987587
44	CTCF	chr14:103987460-103987610	NHDF-neo	bronchial:	n/a	chr14:103987570-103987586 chr14:103987572-103987585 chr14:103987569-103987587
45	CTCF	chr14:103987508-103987698	HUVEC	blood vessel:	n/a	chr14:103987570-103987586 chr14:103987572-103987585 chr14:103987569-103987587
46	CTCF	chr14:103987480-103987630	GM12864	blood:	n/a	chr14:103987570-103987586 chr14:103987572-103987585 chr14:103987569-103987587
47	CTCF	chr14:103987500-103987650	HBMEC	blood vessel:	n/a	chr14:103987570-103987586 chr14:103987572-103987585 chr14:103987569-103987587
48	CTCF	chr14:103987363-103987806	K562	blood:	n/a	chr14:103987432-103987445 chr14:103987570-103987586 chr14:103987572-103987585 chr14:103987569-103987587
49	CTCF	chr14:103987120-103987270	HAc	cerebellar:	n/a	n/a
50	CTCF	chr14:103987500-103987650	WERI-Rb-1	eye:	n/a	chr14:103987570-103987586 chr14:103987572-103987585 chr14:103987569-103987587

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:103986467-103986517	ovcar-3	ovarian:	n/a
2	chr14:103987387-103987437	NHDF-neo	bronchial:	n/a
3	chr14:103987728-103987778	HCT-116	colon:	n/a
4	chr14:103988428-103988478	ECC-1	luminal epithelium:	n/a
5	chr14:103987387-103987437	AG09319	gingival:	n/a
6	chr14:103988428-103988478	AG04449	skin:	fetal
7	chr14:103987810-103987860	NB4	blood:	n/a
8	chr14:103987387-103987437	HCPEpiC	choroid plexus:	n/a
9	chr14:103987810-103987860	HRE	kidney:	n/a
10	chr14:103987728-103987778	AG04450	lung:	fetal
11	chr14:103988428-103988478	K562	blood:	n/a
12	chr14:103987150-103987200	GM12892	blood:	n/a
13	chr14:103987810-103987860	AG04449	skin:	fetal
14	chr14:103986467-103986517	CMK	blood:	n/a
15	chr14:103988428-103988478	HIPEpiC	eye:	n/a
16	chr14:103987728-103987778	GM12892	blood:	n/a
17	chr14:103988428-103988478	RPTEC	kidney:	n/a
18	chr14:103987150-103987200	H1-hESC	embryonic stem cell:	embryo
19	chr14:103987150-103987200	PrEC	prostate:	n/a
20	chr14:103987150-103987200	ProgFib	skin:	n/a
21	chr14:103988428-103988478	HMEC	breast:	n/a
22	chr14:103987728-103987778	SAEC	small airway:	n/a
23	chr14:103986467-103986517	PrEC	prostate:	n/a
24	chr14:103987810-103987860	BJ	skin:	n/a
25	chr14:103987387-103987437	T-47D	breast:	n/a
26	chr14:103987387-103987437	Caco-2	colon:	n/a
27	chr14:103986467-103986517	HNPCEpiC	eye:	n/a
28	chr14:103986467-103986517	NHBE	bronchial:	n/a
29	chr14:103987150-103987200	BJ	skin:	n/a
30	chr14:103987387-103987437	ECC-1	luminal epithelium:	n/a
31	chr14:103987387-103987437	Hela-S3	cervix:	n/a
32	chr14:103986467-103986517	HL-60	blood:	n/a
33	chr14:103987150-103987200	Hepatocyte	liver:	n/a
34	chr14:103987810-103987860	BE2_C	brain:	n/a
35	chr14:103987387-103987437	HCT-116	colon:	n/a
36	chr14:103987150-103987200	HEK293	kidney:	embryo
37	chr14:103986467-103986517	SK-N-MC	brain:	n/a
38	chr14:103988428-103988478	Hepatocyte	liver:	n/a
39	chr14:103986467-103986517	A549	lung:	n/a
40	chr14:103986467-103986517	PANC-1	pancreas:	n/a
41	chr14:103987387-103987437	HNPCEpiC	eye:	n/a
42	chr14:103987810-103987860	AG09319	gingival:	n/a
43	chr14:103987728-103987778	NB4	blood:	n/a
44	chr14:103988428-103988478	NT2-D1	testis:	n/a
45	chr14:103987387-103987437	PANC-1	pancreas:	n/a
46	chr14:103986467-103986517	HCF	heart:	n/a
47	chr14:103987728-103987778	PFSK-1	brain:	n/a
48	chr14:103987387-103987437	HL-60	blood:	n/a
49	chr14:103987728-103987778	GM12891	blood:	n/a
50	chr14:103986467-103986517	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:103798500..103802639-chr14:103987592..103992121,9	K562	blood:
2	chr14:103522157..103524674-chr14:103987667..103989193,2	K562	blood:
3	chr14:103963760..103966397-chr14:103985638..103989760,5	K562	blood:
4	chr14:103893677..103895539-chr14:103987804..103990047,2	K562	blood:
5	chr14:103987454..103990068-chr14:104178702..104181671,2	K562	blood:
6	chr1:151512166..151513141-chr14:103987052..103987573,2	Hela-S3	cervix:
7	chr14:54907336..54908126-chr14:103988325..103989307,2	Hela-S3	cervix:
8	chr14:103986778..103989691-chr14:104095238..104098302,4	K562	blood:
9	chr14:103587793..103589963-chr14:103986359..103988722,2	K562	blood:
10	chr14:103985364..103989946-chr14:104026445..104030227,8	MCF-7	breast:
11	chr14:103402292..103404348-chr14:103984211..103986601,2	K562	blood:
12	chr14:103983696..103988397-chr14:104026059..104029809,6	K562	blood:
13	chr14:103988216..103989188-chr3:156543435..156544222,2	HCT-116	colon:
14	chr14:103986881..103989564-chr14:104195653..104197565,2	K562	blood:
15	chr14:103799200..103803060-chr14:103987408..103990865,9	K562	blood:

Variant related genes	Relation type
CKB	TF binding region
CKB	CpG island
ENSG00000259775	chromatin interactions
ENSG00000259717	chromatin interactions
ENSG00000100711	chromatin interactions
ENSG00000232536	chromatin interactions
ENSG00000100664	chromatin interactions
ENSG00000100528	chromatin interactions
ENSG00000166170	chromatin interactions
ENSG00000126215	chromatin interactions
ENSG00000269963	chromatin interactions
ENSG00000126214	chromatin interactions
ENSG00000198752	chromatin interactions
ENSG00000256053	chromatin interactions
ENSG00000185215	chromatin interactions
ENSG00000075413	chromatin interactions
ENSG00000143367	chromatin interactions
ENSG00000197980	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34874824	chr14:103986456-103986457	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs111791659	chr14:103986457-103986458	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs558060738	chr14:103986461-103986462	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs3208514	chr14:103986475-103986476	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs202131879	chr14:103986490-103986491	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs372483120	chr14:103986495-103986496	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs35156510	chr14:103986500-103986501	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs138229520	chr14:103986547-103986548	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs143711516	chr14:103986559-103986560	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs200360815	chr14:103986593-103986594	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs376828896	chr14:103986597-103986598	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs369930382	chr14:103986617-103986618	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs146047573	chr14:103986620-103986621	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs13558	chr14:103986627-103986628	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs368946669	chr14:103986705-103986706	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs375018448	chr14:103986755-103986756	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs113078547	chr14:103986766-103986767	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs369244250	chr14:103986773-103986774	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs373166125	chr14:103986776-103986777	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs573690664	chr14:103986790-103986791	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs542400698	chr14:103986797-103986798	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs113915995	chr14:103986805-103986806	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs377598922	chr14:103986829-103986830	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs369370975	chr14:103986839-103986840	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs148243589	chr14:103986842-103986843	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs559489078	chr14:103986856-103986857	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs373038236	chr14:103986857-103986858	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs528121888	chr14:103986880-103986881	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs199734997	chr14:103986893-103986894	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs201488531	chr14:103986916-103986917	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs141472120	chr14:103986920-103986921	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs530669346	chr14:103986968-103986969	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs550759782	chr14:103986976-103986977	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs200697777	chr14:103986978-103986979	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs149027216	chr14:103987073-103987074	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs536441159	chr14:103987076-103987077	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs2071408	chr14:103987078-103987079	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs377185034	chr14:103987080-103987081	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs115091365	chr14:103987086-103987087	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs534715523	chr14:103987105-103987106	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs557704499	chr14:103987107-103987108	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs577922464	chr14:103987138-103987139	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs2071407	chr14:103987140-103987141	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs557625598	chr14:103987141-103987142	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs574200017	chr14:103987149-103987150	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs559713677	chr14:103987151-103987152	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs543184846	chr14:103987157-103987158	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs373145236	chr14:103987167-103987168	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs572947724	chr14:103987195-103987196	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs545024357	chr14:103987202-103987203	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
Basal cell lymphoma	17053054	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
Cancer	17160897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:433 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103971600-103987000	Weak transcription	Small Intestine	intestine
2	chr14:103972000-103987000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:103977000-103986800	Weak transcription	Primary B cells from cord blood	blood
4	chr14:103977000-103987000	Weak transcription	Dnd41	blood
5	chr14:103980000-103987200	Weak transcription	Aorta	Aorta
6	chr14:103980000-103988400	Weak transcription	Fetal Kidney	kidney
7	chr14:103980200-103987000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr14:103980200-103987000	Weak transcription	HSMM	muscle
9	chr14:103980400-103987200	Weak transcription	HSMMtube	muscle
10	chr14:103982600-103987400	Enhancers	Fetal Heart	heart
11	chr14:103982800-103986800	Enhancers	Brain Angular Gyrus	brain
12	chr14:103982800-103987600	Enhancers	Fetal Brain Male	brain
13	chr14:103983000-103986800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:103983000-103987600	Enhancers	Fetal Lung	lung
15	chr14:103983400-103986600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:103983400-103986800	Enhancers	Placenta	Placenta
17	chr14:103983400-103987000	Enhancers	HMEC	breast
18	chr14:103983400-103987400	Enhancers	Spleen	Spleen
19	chr14:103983600-103987000	Enhancers	Pancreas	Pancrea
20	chr14:103983800-103987000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr14:103984000-103986800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:103984000-103987000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:103984000-103987200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr14:103984200-103986800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr14:103984200-103987000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:103984200-103987200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:103984200-103987200	Enhancers	Stomach Mucosa	stomach
28	chr14:103984200-103987200	Enhancers	NH-A	brain
29	chr14:103984400-103986800	Enhancers	Right Atrium	heart
30	chr14:103984400-103987000	Enhancers	Adipose Nuclei	Adipose
31	chr14:103984400-103987000	Enhancers	Duodenum Mucosa	Duodenum
32	chr14:103984400-103987000	Enhancers	Esophagus	oesophagus
33	chr14:103984400-103987200	Enhancers	Liver	Liver
34	chr14:103984400-103987200	Genic enhancers	NHLF	lung
35	chr14:103984600-103987000	Enhancers	Primary hematopoietic stem cells	blood
36	chr14:103984600-103987200	Enhancers	Lung	lung
37	chr14:103984800-103987000	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr14:103984800-103987000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr14:103985000-103986800	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:103985000-103987000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr14:103985000-103987000	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr14:103985000-103987000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:103985000-103987200	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
44	chr14:103985200-103986800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
45	chr14:103985200-103986800	Enhancers	GM12878-XiMat	blood
46	chr14:103985200-103987000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:103985200-103987000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:103985200-103987000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr14:103985200-103987200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr14:103985200-103987600	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain

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