Variant report

Variant	nsv607967
Chromosome Location	chr7:100486016-100487748
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:625)
CpG islands
(count:550)
Chromatin interactive
region (count:47)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:625 , 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	chr7:100487525-100487637	K562	blood:	n/a	n/a
2	ARID3A	chr7:100487002-100487169	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:100487540-100487602	HepG2	liver:	n/a	n/a
4	ATF2	chr7:100486314-100486825	GM12878	blood:	n/a	n/a
5	ATF2	chr7:100486350-100486807	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr7:100486995-100487317	GM12878	blood:	n/a	n/a
7	ATF2	chr7:100485710-100487360	GM12878	blood:	n/a	n/a
8	ATF2	chr7:100487396-100487810	GM12878	blood:	n/a	n/a
9	ATF3	chr7:100487408-100488008	A549	lung:	n/a	n/a
10	BACH1	chr7:100487516-100488074	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr7:100486908-100487062	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr7:100486473-100487241	GM12878	blood:	n/a	chr7:100486978-100486991 chr7:100486984-100486997 chr7:100487069-100487082 chr7:100487132-100487141
13	BCL3	chr7:100486175-100487415	K562	blood:	n/a	chr7:100486978-100486991 chr7:100486984-100486997 chr7:100487069-100487082 chr7:100487132-100487141
14	BCL3	chr7:100486681-100487359	GM12878	blood:	n/a	chr7:100486978-100486991 chr7:100486984-100486997 chr7:100487069-100487082 chr7:100487132-100487141
15	BCL3	chr7:100486212-100487826	A549	lung:	n/a	chr7:100486978-100486991 chr7:100486984-100486997 chr7:100487069-100487082 chr7:100487132-100487141
16	BCL3	chr7:100486005-100487160	A549	lung:	n/a	chr7:100486978-100486991 chr7:100486984-100486997 chr7:100487069-100487082 chr7:100487132-100487141
17	BCLAF1	chr7:100486696-100487335	GM12878	blood:	n/a	chr7:100486978-100486991 chr7:100486984-100486997 chr7:100487069-100487082 chr7:100487132-100487141
18	BCLAF1	chr7:100486767-100487308	GM12878	blood:	n/a	chr7:100486978-100486991 chr7:100486984-100486997 chr7:100487069-100487082 chr7:100487132-100487141
19	BHLHE40	chr7:100487490-100488202	K562	blood:	n/a	n/a
20	BHLHE40	chr7:100487088-100487263	GM12878	blood:	n/a	n/a
21	BHLHE40	chr7:100487514-100487675	GM12878	blood:	n/a	n/a
22	BHLHE40	chr7:100487088-100487252	K562	blood:	n/a	n/a
23	CBX3	chr7:100486638-100488347	K562	blood:	n/a	n/a
24	CCNT2	chr7:100486273-100488089	K562	blood:	n/a	n/a
25	CEBPB	chr7:100485706-100486477	K562	blood:	n/a	chr7:100486297-100486314
26	CEBPB	chr7:100487248-100487636	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr7:100486157-100486702	GM12878	blood:	n/a	chr7:100486297-100486314
28	CEBPB	chr7:100486230-100486444	Hela-S3	cervix:	n/a	chr7:100486297-100486314
29	CEBPD	chr7:100487403-100487708	HepG2	liver:	n/a	n/a
30	CEBPD	chr7:100486795-100487795	HepG2	liver:	n/a	n/a
31	CHD1	chr7:100487654-100488093	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD1	chr7:100487482-100488751	GM12878	blood:	n/a	n/a
33	CHD2	chr7:100487143-100487226	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr7:100487018-100487664	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr7:100487517-100488168	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr7:100487149-100487154	HepG2	liver:	n/a	n/a
37	CHD2	chr7:100487456-100487594	HepG2	liver:	n/a	n/a
38	CHD2	chr7:100487022-100487585	GM12878	blood:	n/a	n/a
39	CHD2	chr7:100486885-100487629	K562	blood:	n/a	n/a
40	CREB1	chr7:100487381-100487750	A549	lung:	n/a	n/a
41	CREB1	chr7:100486612-100487364	A549	lung:	n/a	n/a
42	CTCF	chr7:100487740-100487890	AG10803	skin:	n/a	n/a
43	CTCF	chr7:100487100-100487250	GM12873	blood:	n/a	n/a
44	CTCF	chr7:100487080-100487230	AG04449	skin:	n/a	n/a
45	CTCF	chr7:100487091-100487215	GM19238	blood:	n/a	n/a
46	CTCF	chr7:100487720-100487870	GM12864	blood:	n/a	n/a
47	CTCF	chr7:100487165-100487169	GM12878	blood:	n/a	n/a
48	CTCF	chr7:100487040-100487190	GM12865	blood:	n/a	n/a
49	CTCF	chr7:100487020-100487170	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr7:100487680-100487830	SK-N-SH_RA	brain:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100487514-100487564	SAEC	small airway:	n/a
2	chr7:100487514-100487564	SAEC	small airway:	n/a
3	chr7:100486297-100486347	HRE	kidney:	n/a
4	chr7:100487290-100487340	HCM	heart:	n/a
5	chr7:100486248-100486298	LNCaP	prostate:	n/a
6	chr7:100486297-100486347	AG10803	skin:	n/a
7	chr7:100486423-100486473	K562	blood:	n/a
8	chr7:100487180-100487230	HEK293	kidney:	embryo
9	chr7:100487572-100487622	AoSMC	blood vessel:	n/a
10	chr7:100486297-100486347	GM12891	blood:	n/a
11	chr7:100486248-100486298	Jurkat	blood:	n/a
12	chr7:100486248-100486298	HRE	kidney:	n/a
13	chr7:100487290-100487340	K562	blood:	n/a
14	chr7:100487659-100487709	HCPEpiC	choroid plexus:	n/a
15	chr7:100487180-100487230	NB4	blood:	n/a
16	chr7:100486423-100486473	SAEC	small airway:	n/a
17	chr7:100487514-100487564	Jurkat	blood:	n/a
18	chr7:100486248-100486298	Caco-2	colon:	n/a
19	chr7:100486248-100486298	AG04450	lung:	fetal
20	chr7:100487659-100487709	GM12878	blood:	n/a
21	chr7:100486248-100486298	HUVEC	blood vessel:	n/a
22	chr7:100486423-100486473	NB4	blood:	n/a
23	chr7:100487572-100487622	HepG2	liver:	n/a
24	chr7:100486248-100486298	HIPEpiC	eye:	n/a
25	chr7:100487572-100487622	PANC-1	pancreas:	n/a
26	chr7:100487180-100487230	PFSK-1	brain:	n/a
27	chr7:100486248-100486298	HEEpiC	esophagus:	n/a
28	chr7:100487657-100487707	AG04449	skin:	fetal
29	chr7:100487290-100487340	AG09309	skin:	n/a
30	chr7:100487659-100487709	GM19239	blood:	n/a
31	chr7:100487657-100487707	NB4	blood:	n/a
32	chr7:100486423-100486473	CMK	blood:	n/a
33	chr7:100486248-100486298	HEK293	kidney:	embryo
34	chr7:100487180-100487230	Jurkat	blood:	n/a
35	chr7:100486248-100486298	ECC-1	luminal epithelium:	n/a
36	chr7:100487657-100487707	SK-N-MC	brain:	n/a
37	chr7:100486248-100486298	NT2-D1	testis:	n/a
38	chr7:100487572-100487622	Hepatocyte	liver:	n/a
39	chr7:100487514-100487564	RPTEC	kidney:	n/a
40	chr7:100487659-100487709	AG09319	gingival:	n/a
41	chr7:100487290-100487340	PFSK-1	brain:	n/a
42	chr7:100486423-100486473	PrEC	prostate:	n/a
43	chr7:100486423-100486473	AG10803	skin:	n/a
44	chr7:100487290-100487340	NH-A	brain:	n/a
45	chr7:100487180-100487230	AG04450	lung:	fetal
46	chr7:100486248-100486298	A549	lung:	n/a
47	chr7:100486297-100486347	NB4	blood:	n/a
48	chr7:100486423-100486473	H1-hESC	embryonic stem cell:	embryo
49	chr7:100487514-100487564	PANC-1	pancreas:	n/a
50	chr7:100487657-100487707	BJ	skin:	n/a

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100302488..100305264-chr7:100484983..100487146,3	K562	blood:
2	chr13:31736451..31736972-chr7:100487069..100487988,2	HCT-116	colon:
3	chr7:100486731..100489034-chr7:100894336..100897176,2	MCF-7	breast:
4	chr7:100418397..100419909-chr7:100486584..100488563,2	MCF-7	breast:
5	chr7:100485751..100487913-chr7:100611034..100613104,2	K562	blood:
6	chr10:27149423..27150047-chr7:100487107..100487691,2	Hela-S3	cervix:
7	chr7:100223306..100225539-chr7:100484655..100487462,2	K562	blood:
8	chr7:100182211..100184849-chr7:100486903..100489190,3	MCF-7	breast:
9	chr7:5569985..5570629-chr7:100487541..100488175,2	Hela-S3	cervix:
10	chr7:100485984..100488072-chr7:100806477..100808899,2	K562	blood:
11	chr7:100486719..100488706-chr7:100796879..100799403,2	MCF-7	breast:
12	chr7:100423424..100426106-chr7:100484562..100490364,9	MCF-7	breast:
13	chr7:100402719..100405578-chr7:100487091..100488628,2	K562	blood:
14	chr7:100487290..100489665-chr7:100607825..100610804,2	K562	blood:
15	chr7:100472344..100473067-chr7:100487033..100488215,3	MCF-7	breast:
16	chr6:24774752..24775406-chr7:100486913..100487602,2	HCT-116	colon:
17	chr15:60689899..60690503-chr7:100486937..100487820,2	Hela-S3	cervix:
18	chr7:100486477..100489401-chr7:100859928..100862607,2	MCF-7	breast:
19	chr7:100487416..100489348-chr7:101516491..101519278,2	MCF-7	breast:
20	chr7:100269920..100272546-chr7:100486381..100488020,2	MCF-7	breast:
21	chr7:100423550..100425060-chr7:100485976..100488045,2	K562	blood:
22	chr1:179712115..179713115-chr7:100486907..100487582,2	MCF-7	breast:
23	chr7:63773941..63774744-chr7:100487108..100487984,2	NB4	blood:
24	chr7:100448922..100451627-chr7:100483976..100487908,4	K562	blood:
25	chr7:100485568..100489865-chr7:100727204..100729829,6	MCF-7	breast:
26	chr7:100486155..100488924-chr7:100732323..100735470,4	MCF-7	breast:
27	chr7:100486144..100489424-chr7:100805467..100808505,5	MCF-7	breast:
28	chr7:100303615..100305529-chr7:100486314..100489038,2	K562	blood:
29	chr7:100269556..100272634-chr7:100485447..100488529,3	K562	blood:
30	chr7:100486587..100489014-chr7:100735698..100737931,3	MCF-7	breast:
31	chr7:100486439..100489230-chr7:100726552..100729974,6	MCF-7	breast:
32	chr6:42749094..42751752-chr7:100485925..100488500,3	MCF-7	breast:
33	chr7:100208465..100211590-chr7:100485559..100488810,4	MCF-7	breast:
34	chr7:100462853..100463576-chr7:100487534..100488075,2	MCF-7	breast:
35	chr7:100487486..100489308-chr7:100879476..100881483,2	K562	blood:
36	chr7:100024866..100028113-chr7:100485356..100489963,5	MCF-7	breast:
37	chr3:125093829..125095736-chr7:100486331..100489025,2	MCF-7	breast:
38	chr7:100486624..100489424-chr7:100545614..100548228,2	MCF-7	breast:
39	chr7:100302365..100304789-chr7:100482401..100486103,3	K562	blood:
40	chr7:100486764..100489719-chr7:100736778..100738797,2	K562	blood:
41	chr7:100201842..100204261-chr7:100485824..100488204,2	MCF-7	breast:
42	chr7:100447367..100452420-chr7:100484839..100489079,9	MCF-7	breast:
43	chr7:100433653..100435265-chr7:100487454..100490757,3	MCF-7	breast:
44	chr7:100486083..100488238-chr7:100659648..100662388,2	MCF-7	breast:
45	chr7:100299982..100306646-chr7:100485585..100490991,8	MCF-7	breast:
46	chr7:100487624..100489181-chr7:100719587..100722224,2	K562	blood:
47	chr7:100484134..100489082-chr7:100804986..100809404,8	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SRRT	hsa-miR-196a-5p	chr7:100486196-100486218

Variant related genes	Relation type
UFSP1	TF binding region
UFSP1	CpG island
ENSG00000077454	chromatin interactions
ENSG00000236305	chromatin interactions
ENSG00000263672	chromatin interactions
ENSG00000112624	chromatin interactions
ENSG00000143340	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000106330	chromatin interactions
ENSG00000106327	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000106397	chromatin interactions
ENSG00000087087	chromatin interactions
ENSG00000106404	chromatin interactions
ENSG00000196411	chromatin interactions
ENSG00000112312	chromatin interactions
ENSG00000163848	chromatin interactions
ENSG00000228273	chromatin interactions
ENSG00000225946	chromatin interactions
ENSG00000128564	chromatin interactions
ENSG00000106336	chromatin interactions
ENSG00000106367	chromatin interactions
ENSG00000205277	chromatin interactions
ENSG00000260336	chromatin interactions
ENSG00000106400	chromatin interactions
ENSG00000146828	chromatin interactions
ENSG00000172354	chromatin interactions
ENSG00000120694	chromatin interactions
ENSG00000172336	chromatin interactions
ENSG00000227053	chromatin interactions
ENSG00000136754	chromatin interactions
ENSG00000182718	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000169871	chromatin interactions
ENSG00000234444	chromatin interactions
ENSG00000214253	chromatin interactions
ENSG00000169894	chromatin interactions
ENSG00000106333	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17882992	chr7:100486016-100486017	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs76450656	chr7:100486019-100486020	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs369210024	chr7:100486022-100486023	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs536726911	chr7:100486026-100486027	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs2720392	chr7:100486035-100486036	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs200218274	chr7:100486036-100486037	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs377417829	chr7:100486037-100486038	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs140228675	chr7:100486038-100486039	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs371124764	chr7:100486045-100486046	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs375619969	chr7:100486047-100486048	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
11	rs376982742	chr7:100486050-100486051	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs377683875	chr7:100486055-100486056	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs567340203	chr7:100486068-100486069	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs180979674	chr7:100486069-100486070	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs150287642	chr7:100486086-100486087	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
16	rs3087504	chr7:100486088-100486089	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs11171	chr7:100486110-100486111	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs370307936	chr7:100486128-100486129	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
19	rs368786443	chr7:100486152-100486153	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
20	rs2733917	chr7:100486158-100486159	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
21	rs554495533	chr7:100486173-100486174	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
22	rs373699519	chr7:100486179-100486180	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
23	rs375567360	chr7:100486192-100486193	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
24	rs368720237	chr7:100486216-100486217	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region miRNA target site	17 gene(s)	Overlapped CNVs	n/a
25	rs202030567	chr7:100486224-100486225	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
26	rs185805997	chr7:100486235-100486236	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
27	rs114922826	chr7:100486249-100486250	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
28	rs576444375	chr7:100486257-100486258	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs3178268	chr7:100486280-100486281	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	rs137910416	chr7:100486285-100486286	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
31	rs558863690	chr7:100486289-100486290	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
32	rs565882988	chr7:100486297-100486298	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
33	rs544951161	chr7:100486353-100486354	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
34	rs559996179	chr7:100486365-100486366	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
35	rs73396648	chr7:100486382-100486383	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
36	rs542379557	chr7:100486383-100486384	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
37	rs541130846	chr7:100486411-100486412	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
38	rs199673430	chr7:100486423-100486424	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
39	rs78663731	chr7:100486424-100486425	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
40	rs368422793	chr7:100486428-100486429	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
41	rs200894711	chr7:100486445-100486446	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
42	rs147770073	chr7:100486463-100486464	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
43	rs141166290	chr7:100486464-100486465	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs199815193	chr7:100486471-100486472	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs145643348	chr7:100486477-100486478	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
46	rs200859645	chr7:100486499-100486500	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
47	rs147752098	chr7:100486520-100486521	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
48	rs372960530	chr7:100486530-100486531	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
49	rs149184662	chr7:100486532-100486533	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
50	rs143351272	chr7:100486534-100486535	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	19 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
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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	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
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100473600-100486600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:100475800-100486200	Weak transcription	Fetal Brain Male	brain
3	chr7:100478600-100486200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:100479200-100486400	Strong transcription	Brain Inferior Temporal Lobe	brain
5	chr7:100480800-100486200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:100482800-100486600	Genic enhancers	Primary monocytes fromperipheralblood	blood
7	chr7:100482800-100487200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:100483000-100486600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:100483600-100486400	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr7:100483600-100486400	Genic enhancers	Pancreas	Pancrea
11	chr7:100483800-100486200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr7:100483800-100486400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:100483800-100486800	Genic enhancers	Spleen	Spleen
14	chr7:100484000-100486200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr7:100484000-100486400	Genic enhancers	Lung	lung
16	chr7:100484000-100486400	Genic enhancers	HUVEC	blood vessel
17	chr7:100484200-100486200	Genic enhancers	Fetal Muscle Trunk	muscle
18	chr7:100484200-100486200	Genic enhancers	Fetal Muscle Leg	muscle
19	chr7:100484400-100486400	Genic enhancers	Fetal Thymus	thymus
20	chr7:100484400-100486600	Genic enhancers	Placenta	Placenta
21	chr7:100484600-100486200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:100484600-100486600	Transcr. at gene 5' and 3'	Hela-S3	cervix
23	chr7:100484600-100486800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:100484600-100486800	Enhancers	Fetal Heart	heart
25	chr7:100484800-100486200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:100484800-100486200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:100484800-100486200	Genic enhancers	Colonic Mucosa	Colon
28	chr7:100484800-100486400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:100484800-100486400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:100484800-100486400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
31	chr7:100484800-100486400	Genic enhancers	Adipose Nuclei	Adipose
32	chr7:100484800-100486400	Genic enhancers	Brain Cingulate Gyrus	brain
33	chr7:100484800-100486400	Genic enhancers	Brain Hippocampus Middle	brain
34	chr7:100484800-100486400	Genic enhancers	Esophagus	oesophagus
35	chr7:100484800-100486400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
36	chr7:100484800-100486600	Genic enhancers	Fetal Lung	lung
37	chr7:100484800-100486800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
38	chr7:100484800-100487000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr7:100484800-100487000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:100484800-100487400	Enhancers	Stomach Mucosa	stomach
41	chr7:100484800-100488800	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr7:100485000-100486200	Genic enhancers	HMEC	breast
43	chr7:100485000-100486400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:100485000-100486400	Genic enhancers	Fetal Stomach	stomach
45	chr7:100485000-100486400	Genic enhancers	Gastric	stomach
46	chr7:100485000-100486400	Genic enhancers	Thymus	Thymus
47	chr7:100485000-100486600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
48	chr7:100485000-100486600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
49	chr7:100485000-100486600	Transcr. at gene 5' and 3'	K562	blood
50	chr7:100485000-100486800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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