Variant report

Variant	esv3422095
Chromosome Location	chr7:98971441-98974189
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:647)
CpG islands
(count:735)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:647 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:98973115-98973293	HepG2	liver:	n/a	n/a
2	ATF2	chr7:98973154-98973482	GM12878	blood:	n/a	n/a
3	ATF2	chr7:98973005-98973459	GM12878	blood:	n/a	n/a
4	BACH1	chr7:98971685-98971891	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr7:98972449-98972473	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr7:98971695-98972073	A549	lung:	n/a	n/a
7	BCL3	chr7:98972158-98972583	GM12878	blood:	n/a	chr7:98972304-98972317 chr7:98972267-98972280
8	BCLAF1	chr7:98972810-98973428	GM12878	blood:	n/a	chr7:98973160-98973173
9	BCLAF1	chr7:98972750-98973338	GM12878	blood:	n/a	chr7:98973160-98973173
10	BCLAF1	chr7:98973833-98974172	GM12878	blood:	n/a	n/a
11	BHLHE40	chr7:98972691-98972702	K562	blood:	n/a	n/a
12	BHLHE40	chr7:98971780-98972511	GM12878	blood:	n/a	n/a
13	BHLHE40	chr7:98972990-98973279	K562	blood:	n/a	n/a
14	BHLHE40	chr7:98971883-98972392	K562	blood:	n/a	n/a
15	BHLHE40	chr7:98972857-98973237	GM12878	blood:	n/a	n/a
16	BRCA1	chr7:98971641-98971830	HepG2	liver:	n/a	n/a
17	BRCA1	chr7:98972115-98972280	HepG2	liver:	n/a	n/a
18	BRCA1	chr7:98972097-98972311	H1-hESC	embryonic stem cell:	n/a	n/a
19	BRCA1	chr7:98972098-98972352	GM12878	blood:	n/a	n/a
20	BRCA1	chr7:98972172-98972294	Hela-S3	cervix:	n/a	n/a
21	CBX3	chr7:98972869-98973545	K562	blood:	n/a	n/a
22	CBX3	chr7:98971663-98972470	K562	blood:	n/a	n/a
23	CBX3	chr7:98973719-98974149	K562	blood:	n/a	n/a
24	CCNT2	chr7:98971669-98973383	K562	blood:	n/a	chr7:98972267-98972276 chr7:98972945-98972954 chr7:98971821-98971830 chr7:98972020-98972029 chr7:98972304-98972313
25	CEBPB	chr7:98973611-98974050	MCF-7	breast:	n/a	n/a
26	CEBPB	chr7:98973566-98973927	A549	lung:	n/a	n/a
27	CEBPB	chr7:98973691-98974010	ECC-1	luminal epithelium:	n/a	n/a
28	CEBPB	chr7:98973653-98973906	K562	blood:	n/a	n/a
29	CEBPB	chr7:98972812-98972949	HepG2	liver:	n/a	n/a
30	CEBPB	chr7:98973688-98973812	HepG2	liver:	n/a	n/a
31	CEBPB	chr7:98972945-98974046	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr7:98973646-98974065	MCF-7	breast:	n/a	n/a
33	CEBPB	chr7:98973628-98974056	A549	lung:	n/a	n/a
34	CEBPB	chr7:98973628-98973992	A549	lung:	n/a	n/a
35	CEBPB	chr7:98973630-98973898	IMR90	lung:	n/a	n/a
36	CEBPB	chr7:98973320-98973379	IMR90	lung:	n/a	n/a
37	CEBPD	chr7:98972120-98972570	HepG2	liver:	n/a	n/a
38	CEBPD	chr7:98972889-98973301	HepG2	liver:	n/a	n/a
39	CHD1	chr7:98972862-98973363	GM12878	blood:	n/a	chr7:98972943-98972953 chr7:98972985-98972995
40	CHD1	chr7:98971646-98972263	GM12878	blood:	n/a	n/a
41	CHD1	chr7:98973928-98974120	GM12878	blood:	n/a	n/a
42	CHD2	chr7:98972995-98973193	HepG2	liver:	n/a	n/a
43	CHD2	chr7:98971748-98972462	GM12878	blood:	n/a	n/a
44	CHD2	chr7:98972069-98972506	Hela-S3	cervix:	n/a	n/a
45	CHD2	chr7:98972671-98973319	GM12878	blood:	n/a	chr7:98972943-98972953 chr7:98972985-98972995
46	CHD2	chr7:98973678-98974025	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr7:98971840-98972593	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr7:98972727-98973330	Hela-S3	cervix:	n/a	chr7:98972943-98972953 chr7:98972985-98972995
49	CHD2	chr7:98971734-98972460	K562	blood:	n/a	n/a
50	CHD2	chr7:98971876-98972503	HepG2	liver:	n/a	n/a

(count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:98972104-98972154	NHDF-neo	bronchial:	n/a
2	chr7:98973241-98973291	T-47D	breast:	n/a
3	chr7:98972169-98972219	HL-60	blood:	n/a
4	chr7:98972104-98972154	NHDF-neo	bronchial:	n/a
5	chr7:98973241-98973291	T-47D	breast:	n/a
6	chr7:98972169-98972219	HL-60	blood:	n/a
7	chr7:98973241-98973291	HCT-116	colon:	n/a
8	chr7:98972733-98972783	Hela-S3	cervix:	n/a
9	chr7:98971852-98971902	IMR90	lung:	fetal
10	chr7:98971852-98971902	HEK293	kidney:	embryo
11	chr7:98972104-98972154	U87	brain:	n/a
12	chr7:98973273-98973323	NT2-D1	testis:	n/a
13	chr7:98971627-98971677	HAEpiC	amniotic membrane:	n/a
14	chr7:98972169-98972219	ProgFib	skin:	n/a
15	chr7:98972160-98972210	K562	blood:	n/a
16	chr7:98972188-98972238	HUVEC	blood vessel:	n/a
17	chr7:98972156-98972206	NHDF-neo	bronchial:	n/a
18	chr7:98973241-98973291	GM19239	blood:	n/a
19	chr7:98972156-98972206	ovcar-3	ovarian:	n/a
20	chr7:98972197-98972247	SK-N-MC	brain:	n/a
21	chr7:98972169-98972219	AG10803	skin:	n/a
22	chr7:98971627-98971677	HCF	heart:	n/a
23	chr7:98972156-98972206	AG04450	lung:	fetal
24	chr7:98972156-98972206	GM12892	blood:	n/a
25	chr7:98971852-98971902	PANC-1	pancreas:	n/a
26	chr7:98973169-98973219	HepG2	liver:	n/a
27	chr7:98971852-98971902	AoSMC	blood vessel:	n/a
28	chr7:98972188-98972238	IMR90	lung:	fetal
29	chr7:98971627-98971677	Jurkat	blood:	n/a
30	chr7:98971852-98971902	NHDF-neo	bronchial:	n/a
31	chr7:98973241-98973291	GM12891	blood:	n/a
32	chr7:98972733-98972783	ProgFib	skin:	n/a
33	chr7:98973273-98973323	AG10803	skin:	n/a
34	chr7:98972169-98972219	GM12892	blood:	n/a
35	chr7:98972169-98972219	HCF	heart:	n/a
36	chr7:98972188-98972238	Jurkat	blood:	n/a
37	chr7:98973273-98973323	IMR90	lung:	fetal
38	chr7:98972169-98972219	Hela-S3	cervix:	n/a
39	chr7:98972188-98972238	HEK293	kidney:	embryo
40	chr7:98972733-98972783	T-47D	breast:	n/a
41	chr7:98972160-98972210	NH-A	brain:	n/a
42	chr7:98972197-98972247	SKMC	muscle:	n/a
43	chr7:98972156-98972206	PrEC	prostate:	n/a
44	chr7:98972169-98972219	PANC-1	pancreas:	n/a
45	chr7:98973169-98973219	SKMC	muscle:	n/a
46	chr7:98972733-98972783	NB4	blood:	n/a
47	chr7:98973273-98973323	BE2_C	brain:	n/a
48	chr7:98972156-98972206	GM12891	blood:	n/a
49	chr7:98971627-98971677	SKMC	muscle:	n/a
50	chr7:98973273-98973323	Caco-2	colon:	n/a

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:98960735..98962615-chr7:98972304..98974444,2	K562	blood:
2	chr7:98970407..98975516-chr7:99002028..99009396,17	MCF-7	breast:
3	chr11:62572505..62573145-chr7:98972368..98973048,2	NB4	blood:
4	chr7:98971244..98973231-chr7:98989224..98993180,5	MCF-7	breast:
5	chr7:98970707..98973711-chr7:99034539..99037806,4	MCF-7	breast:
6	chr7:98970906..98973809-chr7:99047334..99049746,3	K562	blood:
7	chr7:98628892..98630976-chr7:98971592..98973183,2	K562	blood:
8	chr17:56736227..56737813-chr7:98971869..98973511,2	MCF-7	breast:
9	chr7:98923500..98925484-chr7:98970656..98974432,3	K562	blood:
10	chr7:98970391..98972681-chr7:99033800..99036309,2	K562	blood:
11	chr7:98970740..98974571-chr7:99004724..99008680,16	MCF-7	breast:
12	chr7:98921655..98927239-chr7:98969297..98973851,7	MCF-7	breast:
13	chr7:98954568..98956787-chr7:98970778..98974586,3	K562	blood:
14	chr7:98972239..98973814-chr7:100025905..100028076,2	K562	blood:
15	chr7:98959822..98968172-chr7:98968902..98974586,14	MCF-7	breast:
16	chr7:98964521..98966549-chr7:98972530..98974086,2	K562	blood:
17	chr7:98970993..98974296-chr7:98982055..98984760,3	K562	blood:
18	chr7:98923206..98924865-chr7:98971213..98972924,2	MCF-7	breast:
19	chr12:98986965..98987945-chr7:98971734..98972433,2	HCT-116	colon:
20	chr7:98966757..98974253-chr7:98988800..98995304,7	K562	blood:
21	chr7:98971332..98973489-chr7:99034701..99036393,2	MCF-7	breast:
22	chr7:98971053..98973782-chr7:99000134..99003212,3	MCF-7	breast:
23	chr7:98970980..98974747-chr7:98986775..98992580,7	MCF-7	breast:
24	chr7:98923522..98925484-chr7:98970656..98973873,3	K562	blood:
25	chr7:98968876..98974378-chr7:99004810..99008269,11	K562	blood:
26	chr1:167189667..167190400-chr7:98971709..98972550,2	Hela-S3	cervix:
27	chr7:98970545..98974719-chr7:98992685..98998543,7	MCF-7	breast:

No data

Variant related genes	Relation type
ARPC1B	TF binding region
ARPC1B	CpG island
ENSG00000106245	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000162231	chromatin interactions
ENSG00000143190	chromatin interactions
ENSG00000160917	chromatin interactions
ENSG00000130429	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000241685	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000242687	chromatin interactions
ENSG00000075415	chromatin interactions
ENSG00000106244	chromatin interactions
ENSG00000272205	chromatin interactions
ENSG00000106246	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552855684	chr7:98971460-98971461	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs150675110	chr7:98971479-98971480	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs139867860	chr7:98971496-98971497	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs117845328	chr7:98971577-98971578	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs557816744	chr7:98971650-98971651	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs17552240	chr7:98971663-98971664	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs535920542	chr7:98971705-98971706	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs554177859	chr7:98971711-98971712	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs191254748	chr7:98971717-98971718	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs76635566	chr7:98971726-98971727	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs544507575	chr7:98971775-98971776	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs558815760	chr7:98971820-98971821	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs182584118	chr7:98971876-98971877	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs541269101	chr7:98971903-98971904	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs559567059	chr7:98972040-98972041	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs13230430	chr7:98972086-98972087	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs13230432	chr7:98972097-98972098	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs188251786	chr7:98972110-98972111	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs542360678	chr7:98972140-98972141	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs563744055	chr7:98972202-98972203	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs530931897	chr7:98972218-98972219	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs77089059	chr7:98972287-98972288	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs552250695	chr7:98972340-98972341	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs571165030	chr7:98972341-98972342	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs528777918	chr7:98972353-98972354	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs1127839	chr7:98972399-98972400	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs28507034	chr7:98972423-98972424	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs568299507	chr7:98972459-98972460	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs535618059	chr7:98972460-98972461	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs547901598	chr7:98972502-98972503	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs570243652	chr7:98972503-98972504	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs185219194	chr7:98972561-98972562	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs558257062	chr7:98972704-98972705	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs139371980	chr7:98972719-98972720	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs577099205	chr7:98972821-98972822	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs534600450	chr7:98972863-98972864	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs553273301	chr7:98972918-98972919	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs574710210	chr7:98972951-98972952	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs541999385	chr7:98972952-98972953	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs563783223	chr7:98972957-98972958	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs575641367	chr7:98972988-98972989	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs149395298	chr7:98973055-98973056	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs370955072	chr7:98973081-98973082	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs564300261	chr7:98973082-98973083	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs555727105	chr7:98973114-98973115	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs112554277	chr7:98973136-98973137	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs374365435	chr7:98973185-98973186	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs34130672	chr7:98973196-98973197	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs76499500	chr7:98973198-98973199	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs574235057	chr7:98973216-98973217	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	18632612	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98924600-98971600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:98935600-98971600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:98953800-98971600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:98955000-98971600	Weak transcription	Right Atrium	heart
5	chr7:98959400-98971600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:98961200-98971600	Weak transcription	Small Intestine	intestine
7	chr7:98962200-98971600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:98964600-98971600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:98964600-98971600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:98965000-98971600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:98965000-98971600	Weak transcription	HMEC	breast
12	chr7:98965000-98971800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:98965000-98971800	Weak transcription	Brain Substantia Nigra	brain
14	chr7:98965200-98971600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr7:98965200-98971600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:98965200-98971600	Weak transcription	Aorta	Aorta
17	chr7:98965200-98971600	Weak transcription	Esophagus	oesophagus
18	chr7:98965200-98971600	Weak transcription	Gastric	stomach
19	chr7:98965200-98971600	Weak transcription	HUVEC	blood vessel
20	chr7:98965200-98971800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr7:98965400-98971600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:98966600-98971600	Weak transcription	GM12878-XiMat	blood
23	chr7:98966800-98971600	Weak transcription	Dnd41	blood
24	chr7:98966800-98971800	Weak transcription	Hela-S3	cervix
25	chr7:98967200-98971600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:98967400-98971800	Weak transcription	Brain Germinal Matrix	brain
27	chr7:98967600-98971600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr7:98968200-98971800	Weak transcription	HSMMtube	muscle
29	chr7:98968400-98971600	Weak transcription	Fetal Stomach	stomach
30	chr7:98969000-98971600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:98969400-98971600	Enhancers	Fetal Muscle Trunk	muscle
32	chr7:98969600-98971600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:98970000-98971600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:98970200-98971600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:98970200-98971600	Enhancers	Liver	Liver
36	chr7:98970200-98971600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr7:98970200-98971600	Enhancers	Fetal Muscle Leg	muscle
38	chr7:98970200-98971600	Enhancers	Left Ventricle	heart
39	chr7:98970200-98971600	Enhancers	Spleen	Spleen
40	chr7:98970200-98971800	Flanking Active TSS	Fetal Thymus	thymus
41	chr7:98970400-98971600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:98970400-98971600	Enhancers	Lung	lung
43	chr7:98970400-98972400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:98970600-98971600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:98970600-98971600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:98970600-98971600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:98970600-98971600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:98970600-98971600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:98970600-98971600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:98970600-98971600	Enhancers	Colonic Mucosa	Colon

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