Variant report

Variant	esv2761430
Chromosome Location	chr8:62517980-62873803
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6831)
CpG islands
(count:2876)
Chromatin interactive
region (count:340)
LncRNA
region (count:115)
Mature miRNA
region (count: 1)
miRNA target
sites (count:3)

(count:6831 , 50 per page) page: 1 2 3 4 5 6 7 ... 137

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:62672126-62673153	K562	blood:	n/a	n/a
2	ARID3A	chr8:62664158-62664348	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:62788055-62788394	K562	blood:	n/a	n/a
4	ARID3A	chr8:62626918-62627968	HepG2	liver:	n/a	n/a
5	ARID3A	chr8:62633959-62634234	K562	blood:	n/a	n/a
6	ARID3A	chr8:62642054-62642233	K562	blood:	n/a	n/a
7	ARID3A	chr8:62662459-62662821	HepG2	liver:	n/a	n/a
8	ARID3A	chr8:62679115-62680440	HepG2	liver:	n/a	n/a
9	ARID3A	chr8:62698532-62698707	K562	blood:	n/a	n/a
10	ARID3A	chr8:62623289-62623862	K562	blood:	n/a	chr8:62623639-62623655
11	ARID3A	chr8:62645813-62645959	K562	blood:	n/a	n/a
12	ARID3A	chr8:62631896-62632381	K562	blood:	n/a	n/a
13	ARID3A	chr8:62624117-62626070	K562	blood:	n/a	n/a
14	ARID3A	chr8:62602212-62602895	K562	blood:	n/a	n/a
15	ARID3A	chr8:62791305-62791686	K562	blood:	n/a	n/a
16	ARID3A	chr8:62621047-62622215	K562	blood:	n/a	chr8:62621890-62621906 chr8:62621889-62621905
17	ARID3A	chr8:62645210-62645240	K562	blood:	n/a	n/a
18	ARID3A	chr8:62695313-62695942	HepG2	liver:	n/a	n/a
19	ARID3A	chr8:62621116-62621704	HepG2	liver:	n/a	n/a
20	ARID3A	chr8:62617204-62617992	K562	blood:	n/a	n/a
21	ARID3A	chr8:62841642-62841850	K562	blood:	n/a	n/a
22	ARID3A	chr8:62671711-62672926	HepG2	liver:	n/a	n/a
23	ARID3A	chr8:62704605-62704934	K562	blood:	n/a	n/a
24	ARID3A	chr8:62539867-62540199	K562	blood:	n/a	n/a
25	ARID3A	chr8:62679454-62680280	K562	blood:	n/a	n/a
26	ARID3A	chr8:62704645-62704907	HepG2	liver:	n/a	n/a
27	ARID3A	chr8:62699079-62699354	HepG2	liver:	n/a	n/a
28	ARID3A	chr8:62646706-62647381	K562	blood:	n/a	n/a
29	ARID3A	chr8:62623170-62623961	HepG2	liver:	n/a	chr8:62623639-62623655
30	ARID3A	chr8:62722585-62722796	HepG2	liver:	n/a	n/a
31	ARID3A	chr8:62635548-62635600	K562	blood:	n/a	n/a
32	ARID3A	chr8:62826142-62826284	HepG2	liver:	n/a	n/a
33	ARID3A	chr8:62615949-62616514	K562	blood:	n/a	n/a
34	ARID3A	chr8:62627062-62627104	K562	blood:	n/a	n/a
35	ARID3A	chr8:62626482-62626488	HepG2	liver:	n/a	n/a
36	ARID3A	chr8:62673670-62674691	K562	blood:	n/a	n/a
37	ARID3A	chr8:62722596-62722827	K562	blood:	n/a	n/a
38	ARID3A	chr8:62668948-62669521	K562	blood:	n/a	n/a
39	ARID3A	chr8:62565416-62565712	K562	blood:	n/a	n/a
40	ARID3A	chr8:62624755-62626240	HepG2	liver:	n/a	n/a
41	ARID3A	chr8:62637418-62637624	HepG2	liver:	n/a	n/a
42	ARID3A	chr8:62599942-62600699	K562	blood:	n/a	n/a
43	ARID3A	chr8:62646952-62647279	HepG2	liver:	n/a	n/a
44	ATF1	chr8:62624629-62625517	K562	blood:	n/a	n/a
45	ATF1	chr8:62852251-62852270	K562	blood:	n/a	n/a
46	ATF1	chr8:62599973-62600275	K562	blood:	n/a	n/a
47	ATF1	chr8:62659019-62659473	K562	blood:	n/a	n/a
48	ATF1	chr8:62841592-62841841	K562	blood:	n/a	n/a
49	ATF1	chr8:62644098-62644435	K562	blood:	n/a	n/a
50	ATF1	chr8:62566432-62566466	K562	blood:	n/a	n/a

(count:2876 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:62646214-62646264	MCF-7	breast:	n/a
2	chr8:62552657-62552707	NB4	blood:	n/a
3	chr8:62627324-62627374	NB4	blood:	n/a
4	chr8:62536347-62536397	NT2-D1	testis:	n/a
5	chr8:62624872-62624922	GM06990	blood:	n/a
6	chr8:62870065-62870115	U87	brain:	n/a
7	chr8:62612575-62612625	SK-N-SH_RA	brain:	n/a
8	chr8:62627421-62627471	Hela-S3	cervix:	n/a
9	chr8:62588462-62588512	AG09309	skin:	n/a
10	chr8:62646214-62646264	MCF-7	breast:	n/a
11	chr8:62552657-62552707	NB4	blood:	n/a
12	chr8:62627324-62627374	NB4	blood:	n/a
13	chr8:62536347-62536397	NT2-D1	testis:	n/a
14	chr8:62624872-62624922	GM06990	blood:	n/a
15	chr8:62870065-62870115	U87	brain:	n/a
16	chr8:62612575-62612625	SK-N-SH_RA	brain:	n/a
17	chr8:62627421-62627471	Hela-S3	cervix:	n/a
18	chr8:62588462-62588512	AG09309	skin:	n/a
19	chr8:62635956-62636006	HEK293	kidney:	embryo
20	chr8:62678590-62678640	NH-A	brain:	n/a
21	chr8:62534440-62534490	HepG2	liver:	n/a
22	chr8:62534440-62534490	PrEC	prostate:	n/a
23	chr8:62825339-62825389	GM06990	blood:	n/a
24	chr8:62666459-62666509	AoSMC	blood vessel:	n/a
25	chr8:62536347-62536397	HEK293	kidney:	embryo
26	chr8:62815595-62815645	HEEpiC	esophagus:	n/a
27	chr8:62621327-62621377	MCF10A-Er-Src	breast:	n/a
28	chr8:62604144-62604194	BE2_C	brain:	n/a
29	chr8:62604144-62604194	Caco-2	colon:	n/a
30	chr8:62627042-62627092	HIPEpiC	eye:	n/a
31	chr8:62540385-62540435	HepG2	liver:	n/a
32	chr8:62825339-62825389	HCM	heart:	n/a
33	chr8:62627892-62627942	SAEC	small airway:	n/a
34	chr8:62552657-62552707	HRPEpiC	eye:	n/a
35	chr8:62624872-62624922	HNPCEpiC	eye:	n/a
36	chr8:62596090-62596140	H1-hESC	embryonic stem cell:	embryo
37	chr8:62823815-62823865	SK-N-SH_RA	brain:	n/a
38	chr8:62678590-62678640	MCF10A-Er-Src	breast:	n/a
39	chr8:62568172-62568222	Caco-2	colon:	n/a
40	chr8:62596090-62596140	SK-N-SH	brain:	n/a
41	chr8:62551054-62551104	ECC-1	luminal epithelium:	n/a
42	chr8:62568172-62568222	HAEpiC	amniotic membrane:	n/a
43	chr8:62823894-62823944	Jurkat	blood:	n/a
44	chr8:62604144-62604194	PFSK-1	brain:	n/a
45	chr8:62745097-62745147	AoSMC	blood vessel:	n/a
46	chr8:62666459-62666509	MCF10A-Er-Src	breast:	n/a
47	chr8:62870065-62870115	CMK	blood:	n/a
48	chr8:62627345-62627395	H1-hESC	embryonic stem cell:	embryo
49	chr8:62823833-62823883	MCF-7	breast:	n/a
50	chr8:62627421-62627471	AoSMC	blood vessel:	n/a

(count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Distal block	Cell Line	Cell type
1	chr8:62626734..62628934-chr8:63949908..63951935,2	K562	blood:
2	chr8:62583770..62586612-chr8:62594072..62596206,2	MCF-7	breast:
3	chr8:62590920..62593781-chr8:62625568..62627166,2	MCF-7	breast:
4	chr8:62619459..62621551-chr8:62623294..62626246,2	MCF-7	breast:
5	chr8:62741831..62743979-chr8:62747018..62749495,2	K562	blood:
6	chr8:62622252..62623796-chr8:64080473..64083451,2	K562	blood:
7	chr8:62620565..62623407-chr8:62786770..62788455,2	K562	blood:
8	chr8:62671965..62673776-chr8:62679437..62680960,2	MCF-7	breast:
9	chr8:62497711..62498456-chr8:62526163..62527120,2	MCF-7	breast:
10	chr8:62678357..62681293-chr8:64079795..64081873,2	MCF-7	breast:
11	chr8:62625727..62627412-chr8:62703248..62706192,2	K562	blood:
12	chr8:62672838..62674719-chr8:62683973..62685855,2	K562	blood:
13	chr8:62823240..62824957-chr8:62833824..62836674,2	K562	blood:
14	chr8:62562880..62565070-chr8:62625933..62628017,2	K562	blood:
15	chr8:62623830..62626750-chr8:62657804..62660228,2	K562	blood:
16	chr8:62741831..62744985-chr8:62746789..62749495,5	K562	blood:
17	chr8:62593269..62596613-chr8:62619395..62622846,3	K562	blood:
18	chr8:62704704..62705254-chr8:63015132..63015776,2	MCF-7	breast:
19	chr8:62544962..62547917-chr8:62605591..62607681,2	K562	blood:
20	chr8:62840941..62842961-chr8:62845678..62848368,2	K562	blood:
21	chr8:62647015..62647566-chr8:62679484..62680063,2	MCF-7	breast:
22	chr8:62653569..62658048-chr8:62660700..62664543,4	K562	blood:
23	chr8:62631801..62633703-chr8:62636200..62639165,2	K562	blood:
24	chr8:62595136..62597958-chr8:62598065..62599959,2	K562	blood:
25	chr8:62537338..62540108-chr8:62549531..62551693,2	K562	blood:
26	chr8:62625633..62628053-chr8:62645304..62647717,4	MCF-7	breast:
27	chr8:62567338..62569244-chr8:62572481..62574021,2	K562	blood:
28	chr8:62653569..62658048-chr8:62660700..62664543,4	K562	blood:
29	chr8:62516750..62518743-chr8:62522209..62525565,3	K562	blood:
30	chr8:62564849..62567095-chr8:62625501..62628132,2	MCF-7	breast:
31	chr8:62516750..62518743-chr8:62522209..62525565,3	K562	blood:
32	chr8:62671674..62674406-chr8:62692816..62694496,2	K562	blood:
33	chr8:62680593..62682982-chr8:62689344..62691364,2	MCF-7	breast:
34	chr8:62830759..62832840-chr8:62836689..62840580,3	K562	blood:
35	chr8:62566089..62569797-chr8:62569988..62576057,8	K562	blood:
36	chr8:62625526..62627428-chr8:62673582..62676409,2	MCF-7	breast:
37	chr8:62569725..62571531-chr8:62586765..62588279,2	K562	blood:
38	chr8:62647097..62650403-chr8:62651089..62654085,5	K562	blood:
39	chr8:62672838..62674719-chr8:62683973..62685855,2	K562	blood:
40	chr8:62543072..62544840-chr8:62625541..62627950,2	K562	blood:
41	chr8:62625715..62628343-chr8:63949746..63952148,2	MCF-7	breast:
42	chr8:62560140..62569925-chr8:62619825..62628019,19	K562	blood:
43	chr8:62770464..62772123-chr8:62826774..62828899,2	K562	blood:
44	chr8:62804137..62806853-chr8:62809046..62810581,2	K562	blood:
45	chr8:62609192..62610719-chr8:62617736..62619435,2	MCF-7	breast:
46	chr8:62585886..62587579-chr8:62590749..62593220,2	K562	blood:
47	chr8:62565109..62565756-chr8:62722266..62723174,2	MCF-7	breast:
48	chr8:62651538..62653793-chr8:62655127..62656703,2	MCF-7	breast:
49	chr8:62658856..62661850-chr8:62661927..62663483,2	K562	blood:
50	chr8:62657535..62660480-chr8:62666874..62669371,2	K562	blood:

(count:115 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLVS1-3	chr8:62807045-62807294	ENSG00000254119
2	lnc-NKAIN3-5	chr8:62805262-62805400	ENSG00000254120
3	lnc-CLVS1-3	chr8:62765218-62765335	ENSG00000254119
4	lnc-CA8-13	chr8:62546242-62546286	NONHSAT126870
5	lnc-CLVS1-3	chr8:62737897-62738091	XLOC_006817
6	lnc-CLVS1-3	chr8:62737883-62738091	NONHSAT126890
7	lnc-CA8-13	chr8:62550881-62550919	NONHSAT126868
8	lnc-CA8-13	chr8:62538204-62538839	NONHSAT126869
9	lnc-CA8-13	chr8:62531537-62531578	NONHSAT126868
10	lnc-GGH-4	chr8:62602232-62602274	NONHSAT126878
11	lnc-CA8-13	chr8:62555945-62555992	NONHSAT126870
12	lnc-CLVS1-3	chr8:62781916-62781921	XLOC_006817
13	lnc-NKAIN3-5	chr8:62806676-62806765	ENSG00000254120
14	lnc-CLVS1-3	chr8:62747432-62747555	ENSG00000254119
15	lnc-ASPH-2	chr8:62737569-62737811	ENSG00000253834
16	lnc-CLVS1-3	chr8:62768223-62768411	NONHSAT126881
17	lnc-ASPH-2	chr8:62730851-62730897	XLOC_007099
18	lnc-CA8-13	chr8:62538700-62538839	NONHSAT126870
19	lnc-CA8-13	chr8:62546242-62546286	NONHSAT126868
20	lnc-CA8-12	chr8:62544239-62544571	NONHSAT126871
21	lnc-CLVS1-3	chr8:62737897-62738091	ENSG00000254119
22	lnc-CLVS1-3	chr8:62774329-62774956	NONHSAT126890
23	lnc-CLVS1-3	chr8:62856698-62856739	ENSG00000254119
24	lnc-CLVS1-3	chr8:62765218-62765335	XLOC_006817
25	lnc-ASPH-2	chr8:62729589-62729741	XLOC_007099
26	lnc-CLVS1-3	chr8:62786615-62786738	ENSG00000254119
27	lnc-CLVS1-3	chr8:62747349-62747605	NONHSAT126881
28	lnc-ASPH-2	chr8:62729588-62729741	NONHSAT126885
29	lnc-CLVS1-3	chr8:62737907-62738091	ENSG00000254119
30	lnc-CLVS1-3	chr8:62797845-62798121	ENSG00000254119
31	lnc-CLVS1-5	chr8:62575377-62575957	NONHSAT126875
32	lnc-ASPH-1	chr8:62671653-62674323	ENSG00000251127
33	lnc-CLVS1-3	chr8:62747432-62747555	XLOC_006817
34	lnc-CLVS1-3	chr8:62765218-62765335	ENSG00000254119
35	lnc-ASPH-2	chr8:62732011-62734403	NONHSAT126885
36	lnc-CLVS1-3	chr8:62747432-62747555	XLOC_006817
37	lnc-ASPH-2	chr8:62734040-62734402	ENSG00000253834
38	lnc-ASPH-7	chr8:62834214-62836877	ucscGeneNc_uc003xut_2
39	lnc-CLVS1-3	chr8:62747515-62747555	ENSG00000254119
40	lnc-CLVS1-3	chr8:62768223-62768411	ENSG00000254119
41	lnc-ASPH-2	chr8:62732012-62734403	XLOC_007099
42	lnc-CLVS1-3	chr8:62765218-62765335	XLOC_006817
43	lnc-CLVS1-3	chr8:62747432-62747555	ENSG00000254119
44	lnc-ASPH-2	chr8:62730850-62730897	NONHSAT126885
45	lnc-CLVS1-3	chr8:62697579-62697715	NONHSAT126881
46	lnc-CA8-13	chr8:62556504-62556560	NONHSAT126870
47	lnc-GGH-4	chr8:62599974-62600259	NONHSAT126878
48	lnc-CA8-13	chr8:62546242-62546286	NONHSAT126869
49	lnc-CA8-13	chr8:62559309-62559431	NONHSAT126870
50	lnc-CA8-13	chr8:62550506-62550605	NONHSAT126869

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4470	chr8:62627391-62627411	MIMAT0018997

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	ASPH	hsa-miR-16-5p	chr8:62537844-62537837
2	ASPH	hsa-miR-155-5p	chr8:62538587-62538606
3	ASPH	hsa-miR-16-5p	chr8:62537838-62537859

Variant related genes	Relation type
ENSG00000251127	TF binding region
ENSG00000253834	TF binding region
RN7SKP97	TF binding region
ASPH	TF binding region
ENSG00000253544	TF binding region
ENSG00000254120	TF binding region
ENSG00000254119	TF binding region
MIR4470	TF binding region
ENSG00000251127	CpG island
ENSG00000253834	CpG island
RN7SKP97	CpG island
ASPH	CpG island
ENSG00000253544	CpG island
ENSG00000254120	CpG island
ENSG00000254119	CpG island
MIR4470	CpG island
ENSG00000141027	chromatin interactions
ENSG00000254120	chromatin interactions
ENSG00000230832	chromatin interactions
ENSG00000253834	chromatin interactions
ENSG00000170190	chromatin interactions
ENSG00000251127	chromatin interactions
ENSG00000270673	chromatin interactions
ENSG00000254635	chromatin interactions
ENSG00000198363	chromatin interactions
ENSG00000222898	chromatin interactions
ENSG00000254119	chromatin interactions
ENSG00000137563	chromatin interactions
ENSG00000136830	chromatin interactions
ENSG00000264408	chromatin interactions
ENSG00000095787	chromatin interactions
ENSG00000185728	chromatin interactions
ENSG00000253544	chromatin interactions
COL15A1	miRNA target sites
BTBD9	miRNA target sites
BTG2	miRNA target sites
KLF11	miRNA target sites

Extended variants
information (count: 10981 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:10981 , 50 per page) page: 1 2 3 4 5 6 7 ... 220

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16927634	chr8:62517980-62517981	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142336552	chr8:62517985-62517986	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551848918	chr8:62518008-62518009	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570543940	chr8:62518014-62518015	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532698578	chr8:62518201-62518202	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534395128	chr8:62518236-62518237	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112195530	chr8:62518251-62518252	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568353311	chr8:62518277-62518278	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4738910	chr8:62518285-62518286	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs557234042	chr8:62518365-62518366	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191209122	chr8:62518368-62518369	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539835292	chr8:62518372-62518373	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182480637	chr8:62518401-62518402	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570542735	chr8:62518448-62518449	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188398600	chr8:62518575-62518576	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs118107500	chr8:62518576-62518577	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142171992	chr8:62518601-62518602	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574733908	chr8:62518657-62518658	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113857747	chr8:62518658-62518659	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534232521	chr8:62518669-62518670	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541999411	chr8:62518689-62518690	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563587252	chr8:62518709-62518710	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530683337	chr8:62518766-62518767	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117021203	chr8:62518776-62518777	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34663143	chr8:62518899-62518900	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563956440	chr8:62518929-62518930	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570787363	chr8:62518988-62518989	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528078007	chr8:62518994-62518995	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546333052	chr8:62519012-62519013	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7822250	chr8:62519045-62519046	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs554985315	chr8:62519131-62519132	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189971218	chr8:62519133-62519134	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550726599	chr8:62519191-62519192	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144381930	chr8:62519201-62519202	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113530965	chr8:62519216-62519217	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182959147	chr8:62519235-62519236	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147859270	chr8:62519249-62519250	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187215853	chr8:62519263-62519264	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs16927637	chr8:62519298-62519299	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs555901965	chr8:62519309-62519310	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534641852	chr8:62519316-62519317	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72659014	chr8:62519349-62519350	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577276135	chr8:62519353-62519354	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563446582	chr8:62519433-62519434	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11448214	chr8:62519435-62519436	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79922092	chr8:62519436-62519437	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575377122	chr8:62519445-62519446	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545816741	chr8:62519475-62519476	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7826220	chr8:62519500-62519501	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528075054	chr8:62519530-62519531	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Salivary gland tumor	18059337	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastric cancer	22014070	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:4656 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62468600-62549000	Weak transcription	Right Ventricle	heart
2	chr8:62489200-62528800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:62494200-62519400	Weak transcription	Esophagus	oesophagus
4	chr8:62494200-62520400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:62494200-62521400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:62495400-62529000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:62495600-62525800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr8:62498400-62521200	Weak transcription	Ovary	ovary
9	chr8:62499200-62519400	Weak transcription	Liver	Liver
10	chr8:62503000-62521200	Weak transcription	Aorta	Aorta
11	chr8:62504800-62526800	Weak transcription	NHEK	skin
12	chr8:62504800-62536200	Weak transcription	HUVEC	blood vessel
13	chr8:62506200-62528800	Weak transcription	HepG2	liver
14	chr8:62506400-62526200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:62506600-62541400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:62508800-62520800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:62508800-62549800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:62509000-62521400	Weak transcription	Fetal Stomach	stomach
19	chr8:62509000-62523200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:62509200-62520800	Weak transcription	Gastric	stomach
21	chr8:62509200-62521400	Weak transcription	Lung	lung
22	chr8:62509200-62521400	Weak transcription	Pancreas	Pancrea
23	chr8:62509200-62521400	Weak transcription	Spleen	Spleen
24	chr8:62511400-62567800	Weak transcription	Stomach Mucosa	stomach
25	chr8:62513000-62523200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:62513000-62550200	Weak transcription	Brain Substantia Nigra	brain
27	chr8:62513000-62594800	Weak transcription	Brain Anterior Caudate	brain
28	chr8:62513200-62521600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:62513600-62533000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:62513800-62519600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:62514000-62524000	Weak transcription	Fetal Intestine Small	intestine
32	chr8:62514200-62519400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:62515200-62522400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:62515200-62538400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr8:62516000-62521200	Enhancers	NHDF-Ad	bronchial
36	chr8:62516200-62518400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:62516200-62520600	Genic enhancers	A549	lung
38	chr8:62516400-62519600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr8:62516400-62520600	Enhancers	NHLF	lung
40	chr8:62516600-62518600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:62516600-62518600	Enhancers	Adipose Nuclei	Adipose
42	chr8:62516600-62518800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:62516600-62518800	Enhancers	HSMM	muscle
44	chr8:62516600-62519000	Enhancers	Osteobl	bone
45	chr8:62517000-62518600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:62517200-62518000	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr8:62517200-62518000	Enhancers	Fetal Kidney	kidney
48	chr8:62517200-62518000	Enhancers	Fetal Lung	lung
49	chr8:62517200-62518000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr8:62517200-62518000	Enhancers	HMEC	breast

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