Variant report

Variant	esv3413265
Chromosome Location	chr17:38346576-38348974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:592)
CpG islands
(count:366)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:592 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:38348036-38348048	K562	blood:	n/a	n/a
2	BACH1	chr17:38347544-38347682	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr17:38347918-38348291	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr17:38348033-38348141	K562	blood:	n/a	n/a
5	BCL3	chr17:38347614-38348333	A549	lung:	n/a	n/a
6	BCLAF1	chr17:38347833-38348285	GM12878	blood:	n/a	n/a
7	BHLHE40	chr17:38347861-38348266	K562	blood:	n/a	n/a
8	BRCA1	chr17:38346934-38347035	HepG2	liver:	n/a	n/a
9	CBX3	chr17:38347914-38348213	K562	blood:	n/a	n/a
10	CBX3	chr17:38347822-38348283	K562	blood:	n/a	n/a
11	CCNT2	chr17:38347593-38348162	K562	blood:	n/a	n/a
12	CEBPB	chr17:38346956-38347277	HepG2	liver:	n/a	n/a
13	CEBPB	chr17:38347924-38348197	K562	blood:	n/a	n/a
14	CEBPB	chr17:38347915-38348241	IMR90	lung:	n/a	n/a
15	CEBPB	chr17:38347923-38348240	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr17:38347926-38348201	A549	lung:	n/a	n/a
17	CEBPB	chr17:38347009-38347221	HepG2	liver:	n/a	n/a
18	CEBPB	chr17:38347929-38348208	HepG2	liver:	n/a	n/a
19	CEBPD	chr17:38347053-38347211	HepG2	liver:	n/a	n/a
20	CHD1	chr17:38347962-38348209	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr17:38347991-38348078	K562	blood:	n/a	n/a
22	CHD2	chr17:38347945-38348380	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr17:38346954-38347094	HepG2	liver:	n/a	n/a
24	CREB1	chr17:38347773-38348277	A549	lung:	n/a	n/a
25	CTBP2	chr17:38347554-38348366	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr17:38347898-38348197	Fibrobl	skin:	n/a	n/a
27	CTCF	chr17:38348000-38348150	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr17:38346760-38346910	NHDF-neo	bronchial:	n/a	chr17:38346852-38346861
29	CTCF	chr17:38347980-38348130	GM12869	blood:	n/a	n/a
30	CTCF	chr17:38346720-38346870	HPF	lung:	n/a	chr17:38346852-38346861
31	CTCF	chr17:38346740-38346890	HCT-116	colon:	n/a	chr17:38346852-38346861
32	CTCF	chr17:38346780-38346930	HFF	foreskin:	n/a	chr17:38346852-38346861
33	CTCF	chr17:38346780-38346930	AG04450	lung:	n/a	chr17:38346852-38346861
34	CTCF	chr17:38346780-38346930	HCFaa	heart:	n/a	chr17:38346852-38346861
35	CTCF	chr17:38346820-38346970	HPF	lung:	n/a	chr17:38346852-38346861
36	CTCF	chr17:38346760-38346910	GM12872	blood:	n/a	chr17:38346852-38346861
37	CTCF	chr17:38346740-38346890	WI-38	lung:	n/a	chr17:38346852-38346861
38	CTCF	chr17:38347538-38347682	GM12892	blood:	n/a	n/a
39	CTCF	chr17:38347540-38347690	GM12873	blood:	n/a	n/a
40	CTCF	chr17:38346780-38346930	A549	lung:	n/a	chr17:38346852-38346861
41	CTCF	chr17:38348000-38348150	HEEpiC	esophagus:	n/a	n/a
42	CTCF	chr17:38348000-38348150	GM12864	blood:	n/a	n/a
43	CTCF	chr17:38346740-38346890	NHLF	lung:	n/a	chr17:38346852-38346861
44	CTCF	chr17:38347897-38348192	GM10248	blood:	n/a	n/a
45	CTCF	chr17:38346760-38346910	HUVEC	blood vessel:	n/a	chr17:38346852-38346861
46	CTCF	chr17:38347940-38348090	NHLF	lung:	n/a	n/a
47	CTCF	chr17:38347980-38348130	HFF	foreskin:	n/a	n/a
48	CTCF	chr17:38346760-38346910	HMF	breast:	n/a	chr17:38346852-38346861
49	CTCF	chr17:38348000-38348150	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr17:38347960-38348110	AoAF	blood vessel:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:38346960-38347010	K562	blood:	n/a
2	chr17:38346960-38347010	GM19239	blood:	n/a
3	chr17:38347816-38347866	A549	lung:	n/a
4	chr17:38347659-38347709	HCF	heart:	n/a
5	chr17:38346960-38347010	AG09309	skin:	n/a
6	chr17:38347816-38347866	CMK	blood:	n/a
7	chr17:38347603-38347653	AG09309	skin:	n/a
8	chr17:38347816-38347866	IMR90	lung:	fetal
9	chr17:38347603-38347653	HRE	kidney:	n/a
10	chr17:38346960-38347010	ovcar-3	ovarian:	n/a
11	chr17:38347659-38347709	PANC-1	pancreas:	n/a
12	chr17:38347816-38347866	GM19239	blood:	n/a
13	chr17:38347968-38348018	CMK	blood:	n/a
14	chr17:38347603-38347653	GM19239	blood:	n/a
15	chr17:38347659-38347709	AG10803	skin:	n/a
16	chr17:38347603-38347653	HUVEC	blood vessel:	n/a
17	chr17:38347659-38347709	HRE	kidney:	n/a
18	chr17:38346960-38347010	MCF10A-Er-Src	breast:	n/a
19	chr17:38347659-38347709	AG04449	skin:	fetal
20	chr17:38347710-38347760	NHDF-neo	bronchial:	n/a
21	chr17:38346960-38347010	HNPCEpiC	eye:	n/a
22	chr17:38347816-38347866	HPAEpiC	pulmonary alveolar:	n/a
23	chr17:38347968-38348018	HMEC	breast:	n/a
24	chr17:38347710-38347760	IMR90	lung:	fetal
25	chr17:38346960-38347010	SKMC	muscle:	n/a
26	chr17:38347603-38347653	HIPEpiC	eye:	n/a
27	chr17:38347816-38347866	HCF	heart:	n/a
28	chr17:38347816-38347866	BJ	skin:	n/a
29	chr17:38347659-38347709	Hepatocyte	liver:	n/a
30	chr17:38347659-38347709	H1-hESC	embryonic stem cell:	embryo
31	chr17:38347659-38347709	Jurkat	blood:	n/a
32	chr17:38346960-38347010	AoSMC	blood vessel:	n/a
33	chr17:38347968-38348018	MCF-7	breast:	n/a
34	chr17:38347710-38347760	U87	brain:	n/a
35	chr17:38347659-38347709	T-47D	breast:	n/a
36	chr17:38346960-38347010	PFSK-1	brain:	n/a
37	chr17:38346960-38347010	AG09319	gingival:	n/a
38	chr17:38347603-38347653	AG04449	skin:	fetal
39	chr17:38347710-38347760	BJ	skin:	n/a
40	chr17:38347659-38347709	HNPCEpiC	eye:	n/a
41	chr17:38347968-38348018	U87	brain:	n/a
42	chr17:38347710-38347760	ECC-1	luminal epithelium:	n/a
43	chr17:38347968-38348018	HRPEpiC	eye:	n/a
44	chr17:38347710-38347760	MCF-7	breast:	n/a
45	chr17:38347968-38348018	AG04450	lung:	fetal
46	chr17:38347603-38347653	HMEC	breast:	n/a
47	chr17:38347603-38347653	NT2-D1	testis:	n/a
48	chr17:38346960-38347010	IMR90	lung:	fetal
49	chr17:38347710-38347760	Hepatocyte	liver:	n/a
50	chr17:38347659-38347709	HL-60	blood:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38255845..38258486-chr17:38345556..38347163,2	MCF-7	breast:
2	chr17:38348399..38350901-chr17:38351389..38353492,2	MCF-7	breast:
3	chr17:38334977..38338913-chr17:38347829..38351366,4	MCF-7	breast:
4	chr17:38277920..38280919-chr17:38344747..38347808,3	MCF-7	breast:
5	chr17:38168785..38171760-chr17:38343651..38347238,3	K562	blood:
6	chr17:38346506..38348012-chr17:38375510..38377087,2	MCF-7	breast:
7	chr17:38343572..38346037-chr17:38346737..38348238,2	K562	blood:
8	chr17:38343298..38345399-chr17:38347624..38349920,2	MCF-7	breast:
9	chr17:38337616..38339944-chr17:38348078..38350196,2	K562	blood:
10	chr17:38330070..38334400-chr17:38346938..38351108,4	K562	blood:
11	chr17:38268818..38270189-chr17:38347742..38348733,4	K562	blood:
12	chr17:38348080..38350590-chr17:38501950..38504205,2	K562	blood:

No data

Variant related genes	Relation type
RAPGEFL1	TF binding region
RAPGEFL1	CpG island
ENSG00000188895	chromatin interactions
ENSG00000126368	chromatin interactions
ENSG00000171475	chromatin interactions
ENSG00000108342	chromatin interactions
ENSG00000108352	chromatin interactions
ENSG00000265799	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376570107	chr17:38346643-38346644	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs375525301	chr17:38346649-38346650	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs370356739	chr17:38346652-38346653	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs373972696	chr17:38346667-38346668	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs375994124	chr17:38346677-38346678	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs55696782	chr17:38346708-38346709	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs370744223	chr17:38346711-38346712	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs142311967	chr17:38346718-38346719	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs143000460	chr17:38346747-38346748	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs527986885	chr17:38346750-38346751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs368704010	chr17:38346763-38346764	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs56304903	chr17:38346802-38346803	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs368040163	chr17:38346834-38346835	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs567957248	chr17:38346842-38346843	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs369723338	chr17:38346858-38346859	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs368873031	chr17:38346903-38346904	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs267604845	chr17:38346921-38346922	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs375868294	chr17:38346923-38346924	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs550362629	chr17:38346954-38346955	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs568995792	chr17:38346968-38346969	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs199682021	chr17:38346991-38346992	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs557476181	chr17:38347001-38347002	Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs548239903	chr17:38347061-38347062	Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs572833215	chr17:38347076-38347077	Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs533549270	chr17:38347085-38347086	Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs555660696	chr17:38347091-38347092	Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs573585776	chr17:38347123-38347124	Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs144655242	chr17:38347148-38347149	Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs377128108	chr17:38347171-38347172	Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs562318070	chr17:38347174-38347175	Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs577721330	chr17:38347242-38347243	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs545444769	chr17:38347276-38347277	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs560374689	chr17:38347284-38347285	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs527733124	chr17:38347366-38347367	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs148590396	chr17:38347381-38347382	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs142961531	chr17:38347414-38347415	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs371700595	chr17:38347423-38347424	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs550399668	chr17:38347452-38347453	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs555805232	chr17:38347558-38347559	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs113045849	chr17:38347609-38347610	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs368978977	chr17:38347672-38347673	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs201063375	chr17:38347674-38347675	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs35880787	chr17:38347694-38347695	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs371200373	chr17:38347739-38347740	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs200626069	chr17:38347743-38347744	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs374744582	chr17:38347755-38347756	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs554909355	chr17:38347758-38347759	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs369138932	chr17:38347792-38347793	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs372880043	chr17:38347817-38347818	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs34564719	chr17:38347831-38347832	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	24379144	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Sezary syndrome	18413736	CNVD
Urothelial carcinoma	21177765	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Disease	22962312	CNVD
Mental retardation	20152051	CNVD
Mental retardation	19951919	CNVD
Mental retardation	22817714	CNVD
Mental retardation	21956041	CNVD
Brain cancer	19584924	CNVD
Glioblastoma multiforme	22286061	CNVD
Schizophrenia	21399695	CNVD
Non-syndromic sensorineural hearing loss	19165922	CNVD
Prader-willi syndrome	20588305	CNVD
17q21.31 microdeletion syndrome	16940994	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
17q21.31 microdeletion syndrome	22283845	CNVD
Intellectual disability	22194194	CNVD
17q21.31 microdeletion syndrome	20606400	CNVD
17q21.31 microdeletion syndrome	18628315	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	20409316	CNVD
HIV/AIDS	18360285	CNVD
HIV/AIDS	17330138	CNVD
Systemic lupus erythematosus	19287148	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
HIV/AIDS	17008540	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Lung cancer	21203850	CNVD

Chromatin state (count:633 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38333200-38347000	Weak transcription	Brain Substantia Nigra	brain
2	chr17:38333600-38347000	Weak transcription	Fetal Lung	lung
3	chr17:38334000-38347000	Weak transcription	HUVEC	blood vessel
4	chr17:38334200-38346800	Weak transcription	Spleen	Spleen
5	chr17:38334200-38347000	Weak transcription	GM12878-XiMat	blood
6	chr17:38334200-38347400	Weak transcription	Aorta	Aorta
7	chr17:38334400-38346800	Weak transcription	Colon Smooth Muscle	Colon
8	chr17:38334400-38346800	Weak transcription	Ovary	ovary
9	chr17:38334600-38346600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr17:38334600-38346800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr17:38335200-38346600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr17:38335200-38346800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:38335200-38346800	Weak transcription	Thymus	Thymus
14	chr17:38335200-38347000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:38335200-38347800	Weak transcription	Small Intestine	intestine
16	chr17:38335400-38346800	Weak transcription	Fetal Brain Male	brain
17	chr17:38335400-38347000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr17:38336400-38347000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:38336400-38347000	Weak transcription	NHDF-Ad	bronchial
20	chr17:38336400-38347000	Weak transcription	NHLF	lung
21	chr17:38336600-38346600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr17:38336600-38346600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:38336600-38346800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr17:38336800-38347400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr17:38337000-38346800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr17:38337000-38347000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr17:38337000-38347000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr17:38337000-38347000	Weak transcription	Osteobl	bone
29	chr17:38337200-38346600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr17:38337200-38346600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr17:38337200-38346600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr17:38337200-38347000	Weak transcription	Brain Angular Gyrus	brain
33	chr17:38337200-38347200	Weak transcription	NH-A	brain
34	chr17:38337400-38346600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr17:38337400-38346800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr17:38337600-38347000	Weak transcription	HSMM	muscle
37	chr17:38337800-38346600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr17:38337800-38347000	Weak transcription	Lung	lung
39	chr17:38337800-38347000	Weak transcription	Pancreas	Pancrea
40	chr17:38338000-38346800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr17:38338000-38346800	Weak transcription	HMEC	breast
42	chr17:38338000-38347000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:38338000-38347000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr17:38338000-38349800	Weak transcription	Dnd41	blood
45	chr17:38338800-38346600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr17:38339600-38347000	Weak transcription	Left Ventricle	heart
47	chr17:38339600-38347400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr17:38341000-38347800	Weak transcription	NHEK	skin
49	chr17:38341800-38346600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr17:38341800-38346600	Weak transcription	A549	lung

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