Variant report

Variant	esv3339866
Chromosome Location	chr8:125485996-125488544
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:998)
CpG islands
(count:793)
Chromatin interactive
region (count:62)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:998 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:125485691-125487043	K562	blood:	n/a	n/a
2	ARID3A	chr8:125488411-125488801	K562	blood:	n/a	n/a
3	ARID3A	chr8:125488459-125488731	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:125486544-125487076	HepG2	liver:	n/a	n/a
5	ATF1	chr8:125486051-125487154	K562	blood:	n/a	n/a
6	ATF1	chr8:125488439-125488775	K562	blood:	n/a	n/a
7	ATF2	chr8:125486509-125487233	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr8:125486246-125487170	GM12878	blood:	n/a	n/a
9	ATF2	chr8:125486441-125487160	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr8:125487921-125488737	GM12878	blood:	n/a	n/a
11	ATF2	chr8:125487307-125487856	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr8:125487288-125487807	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr8:125486522-125487295	GM12878	blood:	n/a	n/a
14	ATF3	chr8:125486734-125487076	HepG2	liver:	n/a	n/a
15	ATF3	chr8:125486656-125487119	K562	blood:	n/a	n/a
16	ATF3	chr8:125486754-125487048	GM12878	blood:	n/a	n/a
17	ATF3	chr8:125486592-125487067	GM12878	blood:	n/a	n/a
18	ATF3	chr8:125486613-125487196	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF3	chr8:125486636-125487056	K562	blood:	n/a	n/a
20	ATF3	chr8:125486586-125487061	HepG2	liver:	n/a	n/a
21	ATF3	chr8:125486437-125487242	A549	lung:	n/a	n/a
22	ATF3	chr8:125486719-125487082	K562	blood:	n/a	n/a
23	ATF3	chr8:125486683-125487142	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF3	chr8:125486437-125487113	A549	lung:	n/a	n/a
25	BACH1	chr8:125486692-125487002	K562	blood:	n/a	n/a
26	BATF	chr8:125486769-125487066	GM12878	blood:	n/a	chr8:125486892-125486905
27	BCL11A	chr8:125486682-125487036	GM12878	blood:	n/a	n/a
28	BCL3	chr8:125486208-125487306	A549	lung:	n/a	n/a
29	BCL3	chr8:125486739-125487498	GM12878	blood:	n/a	n/a
30	BCL3	chr8:125485982-125487180	A549	lung:	n/a	n/a
31	BCLAF1	chr8:125486399-125487226	GM12878	blood:	n/a	n/a
32	BCLAF1	chr8:125487263-125488021	GM12878	blood:	n/a	n/a
33	BCLAF1	chr8:125486347-125487286	GM12878	blood:	n/a	n/a
34	BHLHE40	chr8:125488522-125488999	K562	blood:	n/a	n/a
35	BHLHE40	chr8:125486582-125487939	GM12878	blood:	n/a	n/a
36	BHLHE40	chr8:125486538-125487153	K562	blood:	n/a	n/a
37	BHLHE40	chr8:125487402-125487679	K562	blood:	n/a	n/a
38	BHLHE40	chr8:125488168-125488790	GM12878	blood:	n/a	n/a
39	BRCA1	chr8:125486192-125487145	GM12878	blood:	n/a	n/a
40	BRCA1	chr8:125487503-125487901	H1-hESC	embryonic stem cell:	n/a	n/a
41	BRCA1	chr8:125486507-125487111	HepG2	liver:	n/a	n/a
42	BRCA1	chr8:125486383-125487127	H1-hESC	embryonic stem cell:	n/a	n/a
43	BRCA1	chr8:125485590-125487195	Hela-S3	cervix:	n/a	n/a
44	CBX3	chr8:125487294-125488077	K562	blood:	n/a	n/a
45	CBX3	chr8:125488358-125488876	K562	blood:	n/a	n/a
46	CBX3	chr8:125486245-125487243	K562	blood:	n/a	n/a
47	CCNT2	chr8:125488362-125488996	K562	blood:	n/a	n/a
48	CCNT2	chr8:125486416-125487980	K562	blood:	n/a	n/a
49	CEBPB	chr8:125486229-125487101	A549	lung:	n/a	n/a
50	CEBPB	chr8:125486537-125487499	HepG2	liver:	n/a	n/a

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:125487057-125487107	ovcar-3	ovarian:	n/a
2	chr8:125486969-125487019	GM12892	blood:	n/a
3	chr8:125486870-125486920	NB4	blood:	n/a
4	chr8:125486635-125486685	HRE	kidney:	n/a
5	chr8:125486586-125486636	HL-60	blood:	n/a
6	chr8:125487621-125487671	GM19239	blood:	n/a
7	chr8:125487571-125487621	Caco-2	colon:	n/a
8	chr8:125487571-125487621	HEK293	kidney:	embryo
9	chr8:125487621-125487671	HRE	kidney:	n/a
10	chr8:125486985-125487035	PrEC	prostate:	n/a
11	chr8:125486752-125486802	AoSMC	blood vessel:	n/a
12	chr8:125487804-125487854	AG10803	skin:	n/a
13	chr8:125487571-125487621	HRPEpiC	eye:	n/a
14	chr8:125487055-125487105	U87	brain:	n/a
15	chr8:125486985-125487035	GM12891	blood:	n/a
16	chr8:125487621-125487671	PANC-1	pancreas:	n/a
17	chr8:125486586-125486636	PFSK-1	brain:	n/a
18	chr8:125486752-125486802	HIPEpiC	eye:	n/a
19	chr8:125486586-125486636	SK-N-SH_RA	brain:	n/a
20	chr8:125487571-125487621	ovcar-3	ovarian:	n/a
21	chr8:125486821-125486871	HIPEpiC	eye:	n/a
22	chr8:125487571-125487621	AG09319	gingival:	n/a
23	chr8:125487804-125487854	HMEC	breast:	n/a
24	chr8:125487804-125487854	Caco-2	colon:	n/a
25	chr8:125486870-125486920	AG09309	skin:	n/a
26	chr8:125486985-125487035	HPAEpiC	pulmonary alveolar:	n/a
27	chr8:125486635-125486685	GM12892	blood:	n/a
28	chr8:125486586-125486636	Hela-S3	cervix:	n/a
29	chr8:125486821-125486871	GM12878	blood:	n/a
30	chr8:125486870-125486920	GM12878	blood:	n/a
31	chr8:125486821-125486871	HUVEC	blood vessel:	n/a
32	chr8:125486985-125487035	HMEC	breast:	n/a
33	chr8:125486958-125487008	HRE	kidney:	n/a
34	chr8:125486985-125487035	NHBE	bronchial:	n/a
35	chr8:125486821-125486871	PANC-1	pancreas:	n/a
36	chr8:125486586-125486636	HNPCEpiC	eye:	n/a
37	chr8:125487571-125487621	BE2_C	brain:	n/a
38	chr8:125487057-125487107	NHBE	bronchial:	n/a
39	chr8:125486969-125487019	PANC-1	pancreas:	n/a
40	chr8:125487571-125487621	HepG2	liver:	n/a
41	chr8:125486752-125486802	HEEpiC	esophagus:	n/a
42	chr8:125486969-125487019	HL-60	blood:	n/a
43	chr8:125486586-125486636	SK-N-MC	brain:	n/a
44	chr8:125487621-125487671	GM12878	blood:	n/a
45	chr8:125487571-125487621	T-47D	breast:	n/a
46	chr8:125486635-125486685	HAEpiC	amniotic membrane:	n/a
47	chr8:125487804-125487854	LNCaP	prostate:	n/a
48	chr8:125486870-125486920	HL-60	blood:	n/a
49	chr8:125486969-125487019	AG04449	skin:	fetal
50	chr8:125486586-125486636	AG04449	skin:	fetal

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:134734447..134734977-chr8:125486748..125487557,2	Hela-S3	cervix:
2	chr1:16840407..16841072-chr8:125486613..125487612,2	NB4	blood:
3	chr8:125485961..125487605-chr8:126008959..126010729,2	MCF-7	breast:
4	chr8:125459763..125466513-chr8:125482159..125488968,22	K562	blood:
5	chr17:76124280..76124817-chr8:125487166..125487761,2	Hela-S3	cervix:
6	chr8:125487680..125490631-chr8:125553393..125557041,3	MCF-7	breast:
7	chr8:124780302..124782573-chr8:125486403..125488504,7	MCF-7	breast:
8	chr8:125482386..125490832-chr8:125532319..125553620,55	MCF-7	breast:
9	chr20:46128886..46131139-chr8:125486478..125488515,2	MCF-7	breast:
10	chr5:176924088..176925048-chr8:125486448..125487055,2	Hela-S3	cervix:
11	chr2:74698915..74699913-chr8:125486835..125487478,2	HCT-116	colon:
12	chr8:125484053..125491713-chr8:125548138..125554442,21	K562	blood:
13	chr17:56708742..56709302-chr8:125486689..125487507,2	Hela-S3	cervix:
14	chr13:27997218..27999271-chr8:125486263..125488862,2	MCF-7	breast:
15	chr11:73471597..73472536-chr8:125486504..125487013,2	Hela-S3	cervix:
16	chr10:101379435..101380307-chr8:125486333..125487019,2	Hela-S3	cervix:
17	chr8:124835781..124838013-chr8:125487018..125488590,2	MCF-7	breast:
18	chr8:125488174..125490894-chr8:126019892..126022502,2	K562	blood:
19	chr13:110438846..110439621-chr8:125485961..125486658,2	Hela-S3	cervix:
20	chr3:49202004..49204374-chr8:125485548..125487898,2	MCF-7	breast:
21	chr12:120729389..120729935-chr8:125486270..125487096,2	NB4	blood:
22	chr1:116914305..116915883-chr8:125485608..125487551,2	MCF-7	breast:
23	chr8:125486165..125488789-chr8:125574025..125577553,3	MCF-7	breast:
24	chr17:56736071..56736876-chr8:125486151..125486853,2	Hela-S3	cervix:
25	chr8:125488240..125490491-chr8:125514107..125516385,2	MCF-7	breast:
26	chr1:76189545..76190479-chr8:125486401..125487035,2	Hela-S3	cervix:
27	chr3:101292430..101293477-chr8:125486635..125487650,3	Hela-S3	cervix:
28	chr8:125484651..125486969-chr8:125535041..125537083,3	K562	blood:
29	chr8:124558050..124560805-chr8:125484658..125486261,2	MCF-7	breast:
30	chr6:10404647..10405264-chr8:125487109..125488035,2	Hela-S3	cervix:
31	chr8:125458285..125469406-chr8:125482519..125490004,41	MCF-7	breast:
32	chr8:125487371..125489055-chr8:125515121..125516817,2	MCF-7	breast:
33	chr8:125485755..125491202-chr8:125535208..125540184,8	MCF-7	breast:
34	chr5:172197570..172198428-chr8:125486576..125487556,2	Hela-S3	cervix:
35	chr8:125487117..125490518-chr8:125542261..125547751,5	K562	blood:
36	chr18:12376498..12377198-chr8:125486489..125487241,2	Hela-S3	cervix:
37	chr19:14529783..14530580-chr8:125485924..125486888,2	Hela-S3	cervix:
38	chr10:76993820..76995624-chr8:125485040..125487047,2	MCF-7	breast:
39	chr1:155197003..155197581-chr8:125487003..125487937,2	Hela-S3	cervix:
40	chr8:125487492..125489974-chr8:125525285..125527024,3	K562	blood:
41	chr18:5295441..5296396-chr8:125486481..125487021,2	Hela-S3	cervix:
42	chr11:10830328..10830916-chr8:125486418..125487049,2	Hela-S3	cervix:
43	chr8:125485971..125490407-chr8:125553790..125556730,4	MCF-7	breast:
44	chr17:73775457..73776213-chr8:125486418..125487191,2	HCT-116	colon:
45	chr2:28973922..28974429-chr8:125487612..125488451,2	Hela-S3	cervix:
46	chr8:124407395..124409039-chr8:125486191..125487874,2	MCF-7	breast:
47	chr8:125485694..125488622-chr8:125558773..125560275,2	MCF-7	breast:
48	chr8:124818284..124820707-chr8:125487320..125489749,2	K562	blood:
49	chr1:159894798..159895333-chr8:125486565..125487422,2	Hela-S3	cervix:
50	chr8:125484651..125489587-chr8:125535041..125543731,11	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TATDN1-1	chr8:125486326-125486804	NR_108047
2	lnc-TATDN1-1	chr8:125485051-125486817	ENSG00000245149
3	lnc-TATDN1-1	chr8:125486326-125486435	ENSG00000245149
4	lnc-TATDN1-1	chr8:125486326-125486804	XLOC_007206
5	lnc-TATDN1-1	chr8:125486139-125486268	NONHSAT128584
6	lnc-TATDN1-1	chr8:125486527-125486595	ENSG00000245149
7	lnc-TATDN1-1	chr8:125486326-125486805	ENSG00000245149
8	lnc-TATDN1-1	chr8:125484548-125487007	NONHSAT128586
9	lnc-TATDN1-1	chr8:125485925-125486133	NONHSAT128584

No data

Variant related genes	Relation type
RNF139	TF binding region
RNF139-AS1	TF binding region
RNF139	CpG island
RNF139-AS1	CpG island
ENSG00000165644	chromatin interactions
ENSG00000100711	chromatin interactions
ENSG00000147687	chromatin interactions
ENSG00000256034	chromatin interactions
ENSG00000141385	chromatin interactions
ENSG00000117054	chromatin interactions
ENSG00000270021	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000158710	chromatin interactions
ENSG00000185950	chromatin interactions
ENSG00000110321	chromatin interactions
ENSG00000179837	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000147684	chromatin interactions
ENSG00000246308	chromatin interactions
ENSG00000122034	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000196923	chromatin interactions
ENSG00000104549	chromatin interactions
ENSG00000156802	chromatin interactions
ENSG00000170873	chromatin interactions
ENSG00000206652	chromatin interactions
ENSG00000125388	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000087269	chromatin interactions
ENSG00000204822	chromatin interactions
ENSG00000163399	chromatin interactions
ENSG00000120129	chromatin interactions
ENSG00000178193	chromatin interactions
ENSG00000253513	chromatin interactions
ENSG00000113648	chromatin interactions
ENSG00000104341	chromatin interactions
ENSG00000176853	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000237190	chromatin interactions
ENSG00000141524	chromatin interactions
ENSG00000198081	chromatin interactions
ENSG00000175582	chromatin interactions
ENSG00000160766	chromatin interactions
ENSG00000155287	chromatin interactions
ENSG00000126215	chromatin interactions
ENSG00000123136	chromatin interactions
ENSG00000183665	chromatin interactions
ENSG00000081154	chromatin interactions
ENSG00000137203	chromatin interactions
ENSG00000177352	chromatin interactions
ENSG00000117139	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 141 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531538591	chr8:125486005-125486006	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
2	rs550940123	chr8:125486030-125486031	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
3	rs571575495	chr8:125486047-125486048	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
4	rs369471353	chr8:125486081-125486082	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
5	rs186799803	chr8:125486160-125486161	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
6	rs553053845	chr8:125486185-125486186	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
7	rs144893695	chr8:125486213-125486214	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
8	rs535645185	chr8:125486216-125486217	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
9	rs28465300	chr8:125486323-125486324	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs34627465	chr8:125486388-125486389	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
11	rs192419495	chr8:125486393-125486394	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
12	rs72713051	chr8:125486449-125486450	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	30 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs373933632	chr8:125486451-125486452	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	30 gene(s)	Overlapped CNVs	n/a
14	rs377549607	chr8:125486454-125486455	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	30 gene(s)	Overlapped CNVs	n/a
15	rs35051122	chr8:125486464-125486465	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	31 gene(s)	Overlapped CNVs	n/a
16	rs367600304	chr8:125486468-125486469	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	31 gene(s)	Overlapped CNVs	n/a
17	rs574730779	chr8:125486496-125486497	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	34 gene(s)	Overlapped CNVs	n/a
18	rs183417384	chr8:125486516-125486517	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
19	rs540280998	chr8:125486528-125486529	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
20	rs560296732	chr8:125486584-125486585	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	38 gene(s)	Overlapped CNVs	n/a
21	rs111980391	chr8:125486613-125486614	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	Overlapped CNVs	n/a
22	rs187456429	chr8:125486682-125486683	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	Overlapped CNVs	n/a
23	rs542787288	chr8:125486746-125486747	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	41 gene(s)	Overlapped CNVs	n/a
24	rs3812472	chr8:125486767-125486768	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs531602819	chr8:125486777-125486778	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	Overlapped CNVs	n/a
26	rs551408792	chr8:125486785-125486786	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	Overlapped CNVs	n/a
27	rs28642883	chr8:125486806-125486807	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	43 gene(s)	Overlapped CNVs	n/a
28	rs554436109	chr8:125486809-125486810	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	43 gene(s)	Overlapped CNVs	n/a
29	rs533167480	chr8:125486835-125486836	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	Overlapped CNVs	n/a
30	rs143075195	chr8:125486843-125486844	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	Overlapped CNVs	n/a
31	rs138626984	chr8:125486845-125486846	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	Overlapped CNVs	n/a
32	rs142936745	chr8:125486849-125486850	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	Overlapped CNVs	n/a
33	rs77023890	chr8:125486857-125486858	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	Overlapped CNVs	n/a
34	rs114901957	chr8:125486858-125486859	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	Overlapped CNVs	n/a
35	rs538502572	chr8:125486895-125486896	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	Overlapped CNVs	n/a
36	rs572337537	chr8:125486905-125486906	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	Overlapped CNVs	n/a
37	rs370143637	chr8:125486935-125486936	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	38 gene(s)	Overlapped CNVs	n/a
38	rs558169512	chr8:125486949-125486950	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	38 gene(s)	Overlapped CNVs	n/a
39	rs577670611	chr8:125486999-125487000	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	Overlapped CNVs	n/a
40	rs533759835	chr8:125487030-125487031	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
41	rs118064813	chr8:125487088-125487089	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
42	rs150293365	chr8:125487136-125487137	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
43	rs573765096	chr8:125487137-125487138	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
44	rs542374228	chr8:125487138-125487139	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
45	rs562675685	chr8:125487140-125487141	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
46	rs576163304	chr8:125487219-125487220	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
47	rs545250294	chr8:125487275-125487276	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
48	rs545965634	chr8:125487296-125487297	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
49	rs564831571	chr8:125487330-125487331	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
50	rs372167844	chr8:125487350-125487351	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:141)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125464600-125486000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:125478600-125486000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:125483800-125486200	Enhancers	Spleen	Spleen
4	chr8:125484000-125489000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:125484200-125488600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:125484200-125488600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:125484200-125488800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:125484200-125488800	Active TSS	HSMM	muscle
9	chr8:125484200-125489200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:125484200-125489400	Active TSS	K562	blood
11	chr8:125484400-125486000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:125484400-125486000	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr8:125484400-125486200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:125484400-125488400	Active TSS	Muscle Satellite Cultured Cells	--
15	chr8:125484400-125488800	Active TSS	NHLF	lung
16	chr8:125484400-125489000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:125484400-125489600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:125484600-125486000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:125484600-125486000	Flanking Active TSS	Dnd41	blood
20	chr8:125484600-125486200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:125484600-125486800	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr8:125484600-125487600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:125484600-125488600	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr8:125484600-125488600	Active TSS	NHDF-Ad	bronchial
25	chr8:125484600-125489200	Active TSS	Right Ventricle	heart
26	chr8:125484800-125486800	Active TSS	Right Atrium	heart
27	chr8:125484800-125488400	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr8:125484800-125488400	Active TSS	HSMMtube	muscle
29	chr8:125484800-125488400	Active TSS	NH-A	brain
30	chr8:125484800-125489000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:125484800-125489200	Active TSS	Aorta	Aorta
32	chr8:125484800-125489200	Active TSS	Ovary	ovary
33	chr8:125484800-125489200	Active TSS	A549	lung
34	chr8:125484800-125489400	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr8:125484800-125489400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr8:125484800-125489400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr8:125484800-125490200	Active TSS	GM12878-XiMat	blood
38	chr8:125485000-125486000	Weak transcription	Pancreas	Pancrea
39	chr8:125485000-125486200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr8:125485000-125487800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:125485000-125487800	Active TSS	Hela-S3	cervix
42	chr8:125485000-125488200	Active TSS	Fetal Kidney	kidney
43	chr8:125485000-125488800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:125485000-125488800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:125485000-125488800	Active TSS	Fetal Intestine Large	intestine
46	chr8:125485000-125488800	Active TSS	Fetal Intestine Small	intestine
47	chr8:125485000-125488800	Active TSS	HMEC	breast
48	chr8:125485000-125488800	Active TSS	NHEK	skin
49	chr8:125485200-125486000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:125485200-125486000	Flanking Active TSS	Colon Smooth Muscle	Colon

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