Variant report

Variant	nsv870696
Chromosome Location	chr1:95005220-95081587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1305)
CpG islands
(count:1650)
Chromatin interactive
region (count:37)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1305 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:95007441-95007657	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:95045656-95045854	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:95006245-95006874	HepG2	liver:	n/a	n/a
4	ATF3	chr1:95007406-95007641	HepG2	liver:	n/a	n/a
5	ATF3	chr1:95007409-95007615	K562	blood:	n/a	n/a
6	ATF3	chr1:95007381-95007616	K562	blood:	n/a	n/a
7	BACH1	chr1:95046483-95046614	K562	blood:	n/a	n/a
8	BACH1	chr1:95010661-95011027	K562	blood:	n/a	n/a
9	BACH1	chr1:95068522-95068525	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr1:95010637-95011052	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr1:95045344-95045736	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr1:95006990-95008182	H1-hESC	embryonic stem cell:	n/a	chr1:95007515-95007529
13	BCL3	chr1:95063292-95063639	GM12878	blood:	n/a	n/a
14	BHLHE40	chr1:95028019-95028678	HepG2	liver:	n/a	n/a
15	BHLHE40	chr1:95006511-95006916	HepG2	liver:	n/a	n/a
16	BHLHE40	chr1:95064269-95064582	K562	blood:	n/a	n/a
17	BRCA1	chr1:95071745-95071785	GM12878	blood:	n/a	n/a
18	BRCA1	chr1:95007079-95007218	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr1:95046209-95046570	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr1:95045221-95045801	Hela-S3	cervix:	n/a	n/a
21	CBX3	chr1:95038307-95038792	HCT-116	colon:	n/a	n/a
22	CBX3	chr1:95033759-95034127	K562	blood:	n/a	n/a
23	CBX3	chr1:95038362-95038802	HCT-116	colon:	n/a	n/a
24	CBX3	chr1:95038360-95038684	K562	blood:	n/a	n/a
25	CBX3	chr1:95038385-95038614	K562	blood:	n/a	n/a
26	CBX3	chr1:95033783-95034080	K562	blood:	n/a	n/a
27	CCNT2	chr1:95007075-95007604	K562	blood:	n/a	n/a
28	CEBPB	chr1:95006626-95007014	A549	lung:	n/a	n/a
29	CEBPB	chr1:95061275-95061688	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr1:95008575-95009059	Hela-S3	cervix:	n/a	chr1:95008723-95008734
31	CEBPB	chr1:95061343-95061661	IMR90	lung:	n/a	n/a
32	CEBPB	chr1:95063366-95063603	HepG2	liver:	n/a	n/a
33	CEBPB	chr1:95006439-95008044	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr1:95034556-95034578	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr1:95009497-95010147	IMR90	lung:	n/a	n/a
36	CEBPB	chr1:95006666-95006983	HepG2	liver:	n/a	n/a
37	CEBPB	chr1:95007459-95007657	HepG2	liver:	n/a	n/a
38	CEBPB	chr1:95073106-95073116	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr1:95007389-95007702	IMR90	lung:	n/a	n/a
40	CEBPB	chr1:95078287-95078468	HepG2	liver:	n/a	n/a
41	CEBPB	chr1:95063164-95063687	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr1:95025538-95025963	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr1:95063258-95063707	IMR90	lung:	n/a	n/a
44	CEBPB	chr1:95065084-95065371	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr1:95073784-95074058	HepG2	liver:	n/a	n/a
46	CEBPB	chr1:95078300-95078549	K562	blood:	n/a	n/a
47	CEBPB	chr1:95008570-95008904	IMR90	lung:	n/a	chr1:95008723-95008734
48	CEBPB	chr1:95044520-95044760	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr1:95045398-95045901	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr1:95065095-95065304	HepG2	liver:	n/a	n/a

(count:1650 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:95010070-95010120	HAEpiC	amniotic membrane:	n/a
2	chr1:95006322-95006372	AoSMC	blood vessel:	n/a
3	chr1:95056619-95056669	Jurkat	blood:	n/a
4	chr1:95010070-95010120	HAEpiC	amniotic membrane:	n/a
5	chr1:95006322-95006372	AoSMC	blood vessel:	n/a
6	chr1:95056619-95056669	Jurkat	blood:	n/a
7	chr1:95074231-95074281	HL-60	blood:	n/a
8	chr1:95006451-95006501	SK-N-SH_RA	brain:	n/a
9	chr1:95068029-95068079	HIPEpiC	eye:	n/a
10	chr1:95006451-95006501	GM06990	blood:	n/a
11	chr1:95010070-95010120	PrEC	prostate:	n/a
12	chr1:95008117-95008167	HEEpiC	esophagus:	n/a
13	chr1:95006322-95006372	Hela-S3	cervix:	n/a
14	chr1:95007573-95007623	NT2-D1	testis:	n/a
15	chr1:95007593-95007643	HL-60	blood:	n/a
16	chr1:95068029-95068079	HUVEC	blood vessel:	n/a
17	chr1:95006451-95006501	A549	lung:	n/a
18	chr1:95006838-95006888	ovcar-3	ovarian:	n/a
19	chr1:95009677-95009727	PFSK-1	brain:	n/a
20	chr1:95007541-95007591	U87	brain:	n/a
21	chr1:95027075-95027125	HEK293	kidney:	embryo
22	chr1:95007593-95007643	Hepatocyte	liver:	n/a
23	chr1:95006729-95006779	AG09309	skin:	n/a
24	chr1:95007356-95007406	HAEpiC	amniotic membrane:	n/a
25	chr1:95007356-95007406	ProgFib	skin:	n/a
26	chr1:95007502-95007552	K562	blood:	n/a
27	chr1:95007356-95007406	PrEC	prostate:	n/a
28	chr1:95007356-95007406	HEEpiC	esophagus:	n/a
29	chr1:95007331-95007381	SAEC	small airway:	n/a
30	chr1:95009677-95009727	AG10803	skin:	n/a
31	chr1:95007541-95007591	Hepatocyte	liver:	n/a
32	chr1:95027075-95027125	HEEpiC	esophagus:	n/a
33	chr1:95007356-95007406	HCPEpiC	choroid plexus:	n/a
34	chr1:95007502-95007552	SKMC	muscle:	n/a
35	chr1:95009677-95009727	ECC-1	luminal epithelium:	n/a
36	chr1:95068029-95068079	HPAEpiC	pulmonary alveolar:	n/a
37	chr1:95008050-95008100	A549	lung:	n/a
38	chr1:95006977-95007027	SAEC	small airway:	n/a
39	chr1:95068029-95068079	HAEpiC	amniotic membrane:	n/a
40	chr1:95008041-95008091	SK-N-MC	brain:	n/a
41	chr1:95006451-95006501	K562	blood:	n/a
42	chr1:95061616-95061666	HPAEpiC	pulmonary alveolar:	n/a
43	chr1:95006729-95006779	Caco-2	colon:	n/a
44	chr1:95006322-95006372	GM06990	blood:	n/a
45	chr1:95006838-95006888	Caco-2	colon:	n/a
46	chr1:95007489-95007539	HRPEpiC	eye:	n/a
47	chr1:95007356-95007406	HPAEpiC	pulmonary alveolar:	n/a
48	chr1:95006322-95006372	SK-N-MC	brain:	n/a
49	chr1:95018889-95018939	GM19239	blood:	n/a
50	chr1:95018889-95018939	HUVEC	blood vessel:	n/a

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:95075515..95077960-chr1:95084097..95086216,2	K562	blood:
2	chr1:95054539..95057690-chr1:95058025..95060713,3	K562	blood:
3	chr1:95043796..95046691-chr1:95048870..95051582,2	K562	blood:
4	chr1:95068045..95070486-chr1:95071108..95072675,2	K562	blood:
5	chr1:95011302..95013095-chr1:95017503..95019363,2	MCF-7	breast:
6	chr1:95004121..95007110-chr1:95017554..95021316,3	MCF-7	breast:
7	chr1:95054539..95057690-chr1:95058025..95060713,3	K562	blood:
8	chr1:95007807..95010747-chr1:95056056..95057592,2	MCF-7	breast:
9	chr1:95080479..95082832-chr1:95086788..95088378,2	K562	blood:
10	chr1:95006436..95008771-chr1:95043871..95046807,3	MCF-7	breast:
11	chr1:95001173..95003691-chr1:95006398..95009153,2	MCF-7	breast:
12	chr1:95002334..95004389-chr1:95062847..95065293,3	MCF-7	breast:
13	chr1:95044875..95047288-chr1:95048137..95050937,2	MCF-7	breast:
14	chr1:95004121..95007110-chr1:95017554..95021316,3	MCF-7	breast:
15	chr1:95006856..95007717-chr15:75932354..75933289,2	NB4	blood:
16	chr1:95007807..95010747-chr1:95056056..95057592,2	MCF-7	breast:
17	chr1:94992707..94993493-chr1:95064769..95065395,2	MCF-7	breast:
18	chr1:95079718..95082412-chr1:95085713..95087293,2	MCF-7	breast:
19	chr1:95007066..95011283-chr1:95013175..95017472,7	MCF-7	breast:
20	chr1:94997172..94998108-chr1:95064305..95065624,5	MCF-7	breast:
21	chr1:95015461..95017197-chr1:95086412..95088142,2	K562	blood:
22	chr1:94987992..94988549-chr1:95064767..95065433,2	MCF-7	breast:
23	chr1:95064700..95065302-chr1:95267166..95268188,3	MCF-7	breast:
24	chr1:95043796..95046993-chr1:95048870..95051582,3	K562	blood:
25	chr1:95005939..95010305-chr1:95012395..95021281,11	MCF-7	breast:
26	chr1:95043796..95046993-chr1:95048870..95051582,3	K562	blood:
27	chr1:95044965..95045519-chr1:95065172..95065776,2	MCF-7	breast:
28	chr1:95043796..95046691-chr1:95048870..95051582,2	K562	blood:
29	chr1:95067748..95070486-chr1:95070993..95073979,4	K562	blood:
30	chr1:95007807..95010270-chr1:95025313..95026976,2	MCF-7	breast:
31	chr1:95011302..95013095-chr1:95017503..95019363,2	MCF-7	breast:
32	chr1:95004605..95005274-chr18:74502570..74503410,2	MCF-7	breast:
33	chr1:95067748..95070486-chr1:95070993..95073979,4	K562	blood:
34	chr1:95007807..95010270-chr1:95025313..95026976,2	MCF-7	breast:
35	chr1:95044965..95045519-chr1:95065172..95065776,2	MCF-7	breast:
36	chr1:95068045..95070486-chr1:95071108..95072675,2	K562	blood:
37	chr1:95044875..95047288-chr1:95048137..95050937,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-F3-1	chr1:95056890-95057853	XLOC_000921
2	lnc-F3-1	chr1:95051112-95052318	XLOC_000921
3	lnc-ABCD3-1	chr1:95007516-95008786	NONHSAT004594
4	lnc-ABCD3-1	chr1:95008015-95008571	XLOC_000302
5	lnc-F3-3	chr1:95031090-95031132	l_89_chr1:94917575-94970548_76bGuttman_hLF
6	lnc-F3-3	chr1:95058100-95058233	l_89_chr1:94917575-94970548_76bGuttman_hLF
7	lnc-ABCD3-1	chr1:95007608-95007649	XLOC_000302

No data

Variant related genes	Relation type
ENSG00000223675	TF binding region
F3	TF binding region
ENSG00000223675	CpG island
F3	CpG island
ENSG00000117525	chromatin interactions
ENSG00000177971	chromatin interactions
ERBB2IP	miRNA target sites
ERBB3	miRNA target sites

Extended variants
information (count: 3219 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:3219 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs696619	chr1:95005220-95005221	Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
2	rs140607657	chr1:95005287-95005288	Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs725298	chr1:95005390-95005391	Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs551869476	chr1:95005400-95005401	Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs72968355	chr1:95005411-95005412	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs371711333	chr1:95005413-95005414	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs534531638	chr1:95005415-95005416	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs150439244	chr1:95005417-95005418	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs2021962	chr1:95005442-95005443	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2022061	chr1:95005463-95005464	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs372528971	chr1:95005492-95005493	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs567853735	chr1:95005537-95005538	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs536981395	chr1:95005621-95005622	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs59981403	chr1:95005645-95005646	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs2021963	chr1:95005646-95005647	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575216099	chr1:95005648-95005649	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs145157385	chr1:95005649-95005650	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs112625091	chr1:95005658-95005659	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs557841566	chr1:95005668-95005669	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs115770145	chr1:95005675-95005676	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs539936272	chr1:95005693-95005694	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs559955789	chr1:95005702-95005703	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs573483997	chr1:95005725-95005726	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs13306321	chr1:95005758-95005759	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs376017783	chr1:95005782-95005783	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs184787337	chr1:95005784-95005785	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs142597330	chr1:95005820-95005821	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs371817036	chr1:95005842-95005843	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs28672143	chr1:95005856-95005857	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs114064069	chr1:95005865-95005866	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs188147457	chr1:95005876-95005877	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs180965157	chr1:95005880-95005881	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs148395733	chr1:95005907-95005908	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs3917604	chr1:95005919-95005920	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs374376464	chr1:95005944-95005945	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs369005912	chr1:95005957-95005958	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs536816466	chr1:95005960-95005961	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs369064027	chr1:95005989-95005990	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs186167061	chr1:95005996-95005997	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs189216072	chr1:95006002-95006003	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs556671433	chr1:95006078-95006079	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs3748016	chr1:95006136-95006137	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs75288898	chr1:95006152-95006153	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs3748017	chr1:95006158-95006159	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs553427949	chr1:95006206-95006207	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs573517275	chr1:95006218-95006219	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs3917603	chr1:95006250-95006251	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs556426588	chr1:95006281-95006282	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs559501672	chr1:95006293-95006294	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs149139917	chr1:95006374-95006375	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1725 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94965600-95006400	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:94986000-95006200	Weak transcription	Liver	Liver
3	chr1:94994400-95005400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:94994600-95006200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:94995200-95006200	Weak transcription	Spleen	Spleen
6	chr1:94999000-95005400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr1:95000400-95005600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
8	chr1:95001200-95006400	Weak transcription	Small Intestine	intestine
9	chr1:95001400-95006600	Transcr. at gene 5' and 3'	HMEC	breast
10	chr1:95001600-95006200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:95001600-95007400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:95001600-95007800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:95001800-95006000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr1:95001800-95006200	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr1:95001800-95007000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:95001800-95007800	Active TSS	Brain Hippocampus Middle	brain
17	chr1:95002000-95005400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:95002000-95006200	Weak transcription	Aorta	Aorta
19	chr1:95002200-95006000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:95002400-95006600	Transcr. at gene 5' and 3'	NHLF	lung
21	chr1:95002600-95005800	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:95002600-95006600	Active TSS	Fetal Brain Female	brain
23	chr1:95002800-95005400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:95002800-95005800	Enhancers	Fetal Brain Male	brain
25	chr1:95002800-95006800	Transcr. at gene 5' and 3'	NHEK	skin
26	chr1:95002800-95007200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:95002800-95007600	Active TSS	Brain Anterior Caudate	brain
28	chr1:95003000-95007800	Active TSS	Right Atrium	heart
29	chr1:95003000-95008400	Active TSS	Brain Angular Gyrus	brain
30	chr1:95003200-95006400	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr1:95003200-95007800	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr1:95003200-95007800	Active TSS	Fetal Intestine Large	intestine
33	chr1:95003800-95007600	Active TSS	Stomach Smooth Muscle	stomach
34	chr1:95003800-95007800	Active TSS	Brain Cingulate Gyrus	brain
35	chr1:95004000-95005400	Active TSS	Colonic Mucosa	Colon
36	chr1:95004000-95005600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:95004000-95005800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
38	chr1:95004000-95006800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:95004200-95005800	Enhancers	HepG2	liver
40	chr1:95004200-95006000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:95004200-95006200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:95004200-95006800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr1:95004200-95008800	Active TSS	Ovary	ovary
44	chr1:95004400-95006000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:95004400-95006200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:95004400-95006200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:95004400-95006200	Active TSS	Osteobl	bone
48	chr1:95004400-95006400	Active TSS	Brain Germinal Matrix	brain
49	chr1:95004400-95006400	Active TSS	Placenta	Placenta
50	chr1:95004400-95007800	Active TSS	Left Ventricle	heart

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