Variant report

Variant	nsv1030856
Chromosome Location	chr8:10303099-10439064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1095)
CpG islands
(count:1163)
Chromatin interactive
region (count:40)
LncRNA
region (count:48)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1095 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:10318722-10318795	K562	blood:	n/a	n/a
2	ARID3A	chr8:10405474-10405807	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:10427682-10427985	HepG2	liver:	n/a	n/a
4	ATF2	chr8:10368656-10369306	GM12878	blood:	n/a	n/a
5	ATF2	chr8:10368591-10369254	GM12878	blood:	n/a	n/a
6	ATF3	chr8:10427612-10428118	HepG2	liver:	n/a	n/a
7	BACH1	chr8:10405643-10405858	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr8:10368885-10369192	GM12878	blood:	n/a	n/a
9	BATF	chr8:10368641-10369256	GM12878	blood:	n/a	n/a
10	BATF	chr8:10386050-10386295	GM12878	blood:	n/a	n/a
11	BATF	chr8:10386055-10386371	GM12878	blood:	n/a	n/a
12	BCL11A	chr8:10368645-10369160	GM12878	blood:	n/a	n/a
13	BCL3	chr8:10427512-10428071	GM12878	blood:	n/a	chr8:10427959-10427968
14	BCL3	chr8:10423205-10423577	GM12878	blood:	n/a	n/a
15	BCL3	chr8:10368667-10369188	GM12878	blood:	n/a	n/a
16	BCL3	chr8:10423196-10423691	GM12878	blood:	n/a	n/a
17	BCL3	chr8:10434745-10434923	GM12878	blood:	n/a	n/a
18	BCL3	chr8:10427552-10428070	GM12878	blood:	n/a	chr8:10427959-10427968
19	BCLAF1	chr8:10368711-10369356	GM12878	blood:	n/a	n/a
20	BCLAF1	chr8:10367678-10368273	GM12878	blood:	n/a	n/a
21	BHLHE40	chr8:10386039-10386087	GM12878	blood:	n/a	n/a
22	BHLHE40	chr8:10370616-10370942	K562	blood:	n/a	chr8:10370769-10370778 chr8:10370768-10370777 chr8:10370762-10370783 chr8:10370766-10370779 chr8:10370768-10370777
23	BHLHE40	chr8:10405645-10405893	GM12878	blood:	n/a	n/a
24	BHLHE40	chr8:10368316-10369437	GM12878	blood:	n/a	n/a
25	BHLHE40	chr8:10405617-10405921	K562	blood:	n/a	n/a
26	BHLHE40	chr8:10427647-10428164	HepG2	liver:	n/a	n/a
27	BRCA1	chr8:10385147-10385231	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr8:10427806-10427887	HepG2	liver:	n/a	n/a
29	CEBPB	chr8:10380923-10381178	HepG2	liver:	n/a	n/a
30	CEBPB	chr8:10427606-10428080	HepG2	liver:	n/a	chr8:10427973-10427984 chr8:10427970-10427987
31	CEBPB	chr8:10381394-10381407	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr8:10367768-10368017	IMR90	lung:	n/a	n/a
33	CEBPB	chr8:10427816-10428079	A549	lung:	n/a	chr8:10427973-10427984 chr8:10427970-10427987
34	CEBPB	chr8:10310668-10310999	HepG2	liver:	n/a	n/a
35	CEBPB	chr8:10368573-10369225	GM12878	blood:	n/a	n/a
36	CEBPB	chr8:10389562-10389696	IMR90	lung:	n/a	n/a
37	CEBPB	chr8:10404664-10404715	HepG2	liver:	n/a	n/a
38	CEBPB	chr8:10428002-10428018	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr8:10438461-10438649	HepG2	liver:	n/a	n/a
40	CEBPB	chr8:10310687-10310906	K562	blood:	n/a	n/a
41	CEBPB	chr8:10389568-10389719	HepG2	liver:	n/a	n/a
42	CEBPB	chr8:10427810-10428090	HepG2	liver:	n/a	chr8:10427973-10427984 chr8:10427970-10427987
43	CEBPB	chr8:10418594-10418869	HepG2	liver:	n/a	chr8:10418779-10418790
44	CEBPB	chr8:10380904-10381188	A549	lung:	n/a	n/a
45	CEBPB	chr8:10405699-10405853	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr8:10310563-10310956	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr8:10353180-10353362	HepG2	liver:	n/a	n/a
48	CEBPB	chr8:10382990-10383045	HepG2	liver:	n/a	n/a
49	CEBPB	chr8:10427796-10428163	HepG2	liver:	n/a	chr8:10427973-10427984 chr8:10427970-10427987
50	CEBPB	chr8:10427679-10428252	HepG2	liver:	n/a	chr8:10427973-10427984 chr8:10427970-10427987

(count:1163 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:10381792-10381842	ProgFib	skin:	n/a
2	chr8:10339477-10339527	HCT-116	colon:	n/a
3	chr8:10339477-10339527	HRPEpiC	eye:	n/a
4	chr8:10339477-10339527	HNPCEpiC	eye:	n/a
5	chr8:10381792-10381842	ProgFib	skin:	n/a
6	chr8:10339477-10339527	HCT-116	colon:	n/a
7	chr8:10339477-10339527	HRPEpiC	eye:	n/a
8	chr8:10339477-10339527	HNPCEpiC	eye:	n/a
9	chr8:10386846-10386896	HIPEpiC	eye:	n/a
10	chr8:10339477-10339527	PrEC	prostate:	n/a
11	chr8:10386846-10386896	HCM	heart:	n/a
12	chr8:10386874-10386924	SKMC	muscle:	n/a
13	chr8:10339477-10339527	HepG2	liver:	n/a
14	chr8:10383156-10383206	AG10803	skin:	n/a
15	chr8:10405104-10405154	HUVEC	blood vessel:	n/a
16	chr8:10339410-10339460	Caco-2	colon:	n/a
17	chr8:10404760-10404810	Hepatocyte	liver:	n/a
18	chr8:10383763-10383813	ProgFib	skin:	n/a
19	chr8:10404760-10404810	AG09319	gingival:	n/a
20	chr8:10383156-10383206	HepG2	liver:	n/a
21	chr8:10386222-10386272	MCF-7	breast:	n/a
22	chr8:10421582-10421632	AG04450	lung:	fetal
23	chr8:10405250-10405300	GM06990	blood:	n/a
24	chr8:10405415-10405465	HEEpiC	esophagus:	n/a
25	chr8:10383156-10383206	HNPCEpiC	eye:	n/a
26	chr8:10404760-10404810	A549	lung:	n/a
27	chr8:10405104-10405154	MCF-7	breast:	n/a
28	chr8:10381792-10381842	SK-N-SH_RA	brain:	n/a
29	chr8:10421582-10421632	K562	blood:	n/a
30	chr8:10421582-10421632	AG09319	gingival:	n/a
31	chr8:10405250-10405300	Hepatocyte	liver:	n/a
32	chr8:10405415-10405465	Jurkat	blood:	n/a
33	chr8:10404760-10404810	ProgFib	skin:	n/a
34	chr8:10421582-10421632	A549	lung:	n/a
35	chr8:10386874-10386924	MCF-7	breast:	n/a
36	chr8:10382165-10382215	AG09319	gingival:	n/a
37	chr8:10386039-10386089	SK-N-SH_RA	brain:	n/a
38	chr8:10383071-10383121	AG04450	lung:	fetal
39	chr8:10381792-10381842	H1-hESC	embryonic stem cell:	embryo
40	chr8:10339477-10339527	NHBE	bronchial:	n/a
41	chr8:10421582-10421632	ProgFib	skin:	n/a
42	chr8:10381792-10381842	Jurkat	blood:	n/a
43	chr8:10339449-10339499	NH-A	brain:	n/a
44	chr8:10339449-10339499	RPTEC	kidney:	n/a
45	chr8:10339410-10339460	AG09319	gingival:	n/a
46	chr8:10386222-10386272	PANC-1	pancreas:	n/a
47	chr8:10386222-10386272	NHBE	bronchial:	n/a
48	chr8:10405379-10405429	SK-N-SH	brain:	n/a
49	chr8:10339477-10339527	HAEpiC	amniotic membrane:	n/a
50	chr8:10339477-10339527	LNCaP	prostate:	n/a

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:10385003..10387503-chr8:10387534..10389868,2	K562	blood:
2	chr8:10421700..10424416-chr8:10707916..10710717,2	K562	blood:
3	chr8:10375020..10377779-chr8:10377890..10379584,2	MCF-7	breast:
4	chr8:10402409..10405026-chr8:10406767..10409505,2	K562	blood:
5	chr8:10306242..10308473-chr8:10310068..10312588,2	K562	blood:
6	chr8:10339831..10342686-chr8:10351596..10354401,2	K562	blood:
7	chr8:10437286..10440018-chr8:10695895..10698105,2	K562	blood:
8	chr8:10339831..10342686-chr8:10351596..10354401,2	K562	blood:
9	chr8:10354981..10356496-chr8:10377351..10379387,2	K562	blood:
10	chr8:10369277..10371186-chr8:10371806..10374192,2	K562	blood:
11	chr8:10402409..10405026-chr8:10406767..10409505,2	K562	blood:
12	chr8:10405164..10407665-chr8:10409193..10412013,2	K562	blood:
13	chr8:10331191..10333383-chr8:10342162..10343803,2	K562	blood:
14	chr8:10412812..10415531-chr8:10671274..10673611,2	K562	blood:
15	chr8:10411613..10413470-chr8:10415012..10416901,2	K562	blood:
16	chr8:10403125..10404765-chr8:10411334..10413586,2	K562	blood:
17	chr8:10421361..10423280-chr8:10424312..10426014,2	MCF-7	breast:
18	chr8:10425403..10427054-chr8:10442096..10444201,2	K562	blood:
19	chr8:10302259..10303778-chr8:10306329..10308452,2	K562	blood:
20	chr8:10300339..10303104-chr8:10303257..10306151,2	K562	blood:
21	chr8:10405123..10407146-chr8:10694080..10697115,3	MCF-7	breast:
22	chr8:10405164..10407665-chr8:10409193..10412013,2	K562	blood:
23	chr8:10412614..10414725-chr8:10696805..10698747,2	MCF-7	breast:
24	chr8:10437716..10439367-chr8:10443929..10446771,2	K562	blood:
25	chr8:10281970..10284229-chr8:10318464..10320467,2	K562	blood:
26	chr8:10302259..10303778-chr8:10306329..10308452,2	K562	blood:
27	chr8:10374624..10377226-chr8:10381375..10383874,2	K562	blood:
28	chr8:10354981..10356496-chr8:10377351..10379387,2	K562	blood:
29	chr8:10306242..10308473-chr8:10310068..10312588,2	K562	blood:
30	chr8:10411613..10413470-chr8:10415012..10416901,2	K562	blood:
31	chr8:10405624..10406204-chr8:10444484..10445163,2	MCF-7	breast:
32	chr8:10403125..10404765-chr8:10411334..10413586,2	K562	blood:
33	chr8:10405304..10405893-chr8:10696191..10696982,2	MCF-7	breast:
34	chr8:10374624..10377226-chr8:10381375..10383874,2	K562	blood:
35	chr8:10369277..10371186-chr8:10371806..10374192,2	K562	blood:
36	chr8:10300339..10303104-chr8:10303257..10306151,2	K562	blood:
37	chr8:9898731..9899394-chr8:10399301..10400191,2	MCF-7	breast:
38	chr8:10421361..10423280-chr8:10424312..10426014,2	MCF-7	breast:
39	chr8:10275131..10275838-chr8:10399365..10400272,2	MCF-7	breast:
40	chr8:10407992..10408718-chr8:10682226..10683074,2	MCF-7	breast:

(count:48 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP1L1-2	chr8:10354145-10354320	NONHSAT124998
2	lnc-PRSS55-1	chr8:10337649-10337702	ENSG00000253641
3	lnc-PRSS55-1	chr8:10335380-10335408	ENSG00000253641
4	lnc-PRSS55-1	chr8:10337671-10337702	NONHSAT124996
5	lnc-RP1L1-3	chr8:10336688-10336899	NONHSAT124995
6	lnc-PRSS55-1	chr8:10342683-10343382	NONHSAT125000
7	lnc-RP1L1-1	chr8:10436228-10436805	NONHSAT125009
8	lnc-RP1L1-3	chr8:10336688-10336885	ENSG00000253678
9	lnc-PRSS55-1	chr8:10339916-10340804	NONHSAT125000
10	lnc-RP1L1-1	chr8:10438163-10438247	XLOC_007004
11	lnc-RP1L1-3	chr8:10334630-10335291	NONHSAT124992
12	lnc-RP1L1-2	chr8:10338909-10340741	NONHSAT124998
13	lnc-PRSS55-1	chr8:10338056-10338496	ENSG00000253641
14	lnc-MSRA-2	chr8:10305072-10305433	NONHSAT124988
15	lnc-RP1L1-2	chr8:10375404-10375525	ENSG00000253649.1
16	lnc-PRSS55-1	chr8:10345921-10346428	NONHSAT124996
17	lnc-PRSS55-1	chr8:10335271-10335408	ENSG00000253641
18	lnc-PRSS55-1	chr8:10337649-10337702	ENSG00000253641
19	lnc-RP1L1-2	chr8:10341597-10341613	ENSG00000253649.1
20	lnc-PRSS55-1	chr8:10335271-10335408	ENSG00000253641
21	lnc-PRSS55-1	chr8:10334633-10334804	ENSG00000253641
22	lnc-PRSS55-1	chr8:10339371-10339484	ENSG00000253641
23	lnc-MSRA-3	chr8:10328326-10328856	NONHSAT124989
24	lnc-RP1L1-3	chr8:10336688-10336899	NONHSAT124992
25	lnc-RP1L1-2	chr8:10341597-10342143	NONHSAT124998
26	lnc-PRSS55-2	chr8:10417991-10418798	NONHSAT125007
27	lnc-RP1L1-6	chr8:10392632-10392891	ucscGeneNc_uc010lru_1
28	lnc-RP1L1-2	chr8:10340434-10340741	ENSG00000253649.1
29	lnc-MSRA-3	chr8:10312147-10312190	NONHSAT124989
30	lnc-RP1L1-6	chr8:10393536-10393728	ucscGeneNc_uc010lru_1
31	lnc-PRSS55-1	chr8:10334709-10334793	ENSG00000253641
32	lnc-PRSS55-1	chr8:10337649-10337702	ENSG00000253641
33	lnc-RP1L1-2	chr8:10356238-10356318	ENSG00000253649.1
34	lnc-RP1L1-6	chr8:10377798-10378151	ucscGeneNc_uc010lru_1
35	lnc-RP1L1-1	chr8:10436958-10436997	NONHSAT125009
36	lnc-MSRA-2	chr8:10305529-10308687	NONHSAT124988
37	lnc-PRSS55-1	chr8:10338692-10338976	ENSG00000253641
38	lnc-RP1L1-3	chr8:10335001-10335291	ENSG00000253678
39	lnc-RP1L1-2	chr8:10341708-10341756	ENSG00000253649.1
40	lnc-PRSS55-1	chr8:10344317-10346944	NONHSAT125003
41	lnc-RP1L1-6	chr8:10379007-10379166	ucscGeneNc_uc010lru_1
42	lnc-PRSS55-1	chr8:10339916-10340804	NONHSAT124999
43	lnc-PRSS55-1	chr8:10343339-10343382	NONHSAT124999
44	lnc-PRSS55-1	chr8:10332075-10332141	ENSG00000253641
45	lnc-PRSS55-1	chr8:10339371-10340804	NONHSAT124996
46	lnc-RP1L1-1	chr8:10436255-10436957	XLOC_007004
47	lnc-PRSS55-1	chr8:10344317-10347176	ENSG00000272505.1
48	lnc-RP1L1-3	chr8:10336042-10336065	NONHSAT124995

No data

Variant related genes	Relation type
ENSG00000253678	TF binding region
ENSG00000272505	TF binding region
RNU6-729P	TF binding region
PRSS55	TF binding region
ENSG00000253641	TF binding region
PRSS51	TF binding region
ENSG00000253678	CpG island
ENSG00000272505	CpG island
RNU6-729P	CpG island
PRSS55	CpG island
ENSG00000253641	CpG island
PRSS51	CpG island
ENSG00000184647	chromatin interactions
ENSG00000258724	chromatin interactions
ENSG00000254093	chromatin interactions
ENSG00000253695	chromatin interactions
ENSG00000253649	chromatin interactions
ENSG00000253641	chromatin interactions
FAM102A	miRNA target sites
DCTN5	miRNA target sites

Extended variants
information (count: 8551 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:8551 , 50 per page) page: 1 2 3 4 5 6 7 ... 172

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75305841	chr8:10303099-10303100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554911415	chr8:10303106-10303107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200683667	chr8:10303108-10303109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181906754	chr8:10303116-10303117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375057574	chr8:10303232-10303233	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs10110333	chr8:10303265-10303266	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs554435857	chr8:10303270-10303271	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs577497445	chr8:10303284-10303285	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs571755111	chr8:10303294-10303295	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs546365116	chr8:10303311-10303312	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs534158253	chr8:10303329-10303330	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs563093010	chr8:10303359-10303360	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs186237817	chr8:10303368-10303369	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs7005230	chr8:10303387-10303388	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs562023281	chr8:10303388-10303389	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs138764921	chr8:10303389-10303390	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs527676169	chr8:10303390-10303391	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs377174954	chr8:10303391-10303392	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs547519710	chr8:10303418-10303419	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs570701715	chr8:10303446-10303447	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs536964293	chr8:10303453-10303454	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs190558921	chr8:10303455-10303456	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs183102440	chr8:10303522-10303523	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs569533200	chr8:10303578-10303579	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs535128521	chr8:10303608-10303609	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs141922867	chr8:10303613-10303614	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs565477420	chr8:10303645-10303646	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs534590935	chr8:10303662-10303663	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs532128560	chr8:10303665-10303666	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs557505028	chr8:10303677-10303678	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs139971989	chr8:10303689-10303690	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs188119605	chr8:10303698-10303699	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs575681533	chr8:10303723-10303724	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs190808252	chr8:10303727-10303728	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs556748608	chr8:10303742-10303743	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs111552615	chr8:10303744-10303745	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs576720958	chr8:10303750-10303751	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs182605948	chr8:10303768-10303769	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs57875176	chr8:10303776-10303777	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs111373968	chr8:10303779-10303780	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs541399010	chr8:10303782-10303783	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs564338992	chr8:10303800-10303801	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs533226767	chr8:10303823-10303824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370595900	chr8:10303850-10303851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544586039	chr8:10303860-10303861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6987571	chr8:10303871-10303872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs144691458	chr8:10303873-10303874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186641204	chr8:10303891-10303892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192660390	chr8:10303911-10303912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565423821	chr8:10303912-10303913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:139)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Epilepsy	20502679	CNVD
Osteosarcoma	21215367	CNVD
Gastric cancer	21811585	CNVD

Chromatin state (count:758 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10285800-10305200	Weak transcription	Lung	lung
2	chr8:10292200-10321400	Weak transcription	Fetal Brain Male	brain
3	chr8:10294000-10304000	Weak transcription	Fetal Brain Female	brain
4	chr8:10294200-10306600	Weak transcription	Liver	Liver
5	chr8:10294400-10303200	Weak transcription	Primary T cells from cord blood	blood
6	chr8:10294400-10304800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:10300000-10303200	Weak transcription	Aorta	Aorta
8	chr8:10301400-10305000	Weak transcription	Pancreas	Pancrea
9	chr8:10301800-10303200	Enhancers	K562	blood
10	chr8:10302200-10303800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:10302800-10303200	Enhancers	Brain Cingulate Gyrus	brain
12	chr8:10302800-10303600	Enhancers	Brain Anterior Caudate	brain
13	chr8:10302800-10303600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr8:10303000-10303200	Enhancers	Brain Substantia Nigra	brain
15	chr8:10303000-10303600	Enhancers	Brain Hippocampus Middle	brain
16	chr8:10303200-10303400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:10303200-10303600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:10303200-10303600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:10303400-10303600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:10303400-10303800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:10303400-10303800	Enhancers	Brain Angular Gyrus	brain
22	chr8:10303600-10303800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr8:10303600-10303800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:10304000-10304400	Strong transcription	Fetal Brain Female	brain
25	chr8:10304400-10328200	Weak transcription	Fetal Brain Female	brain
26	chr8:10304800-10305200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:10305400-10305600	Weak transcription	Pancreas	Pancrea
28	chr8:10308800-10314800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:10310800-10321000	Weak transcription	Pancreas	Pancrea
30	chr8:10312000-10312200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr8:10312000-10312200	Enhancers	Fetal Lung	lung
32	chr8:10312200-10314000	Weak transcription	Fetal Lung	lung
33	chr8:10312400-10312800	Enhancers	Rectal Smooth Muscle	rectum
34	chr8:10312400-10313200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr8:10312600-10312800	Enhancers	Colon Smooth Muscle	Colon
36	chr8:10312800-10315000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:10313000-10317400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr8:10313200-10313400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr8:10313400-10314000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr8:10313800-10315200	Enhancers	Stomach Mucosa	stomach
41	chr8:10314000-10314600	Enhancers	Adipose Nuclei	Adipose
42	chr8:10314000-10315400	Enhancers	Fetal Lung	lung
43	chr8:10314200-10314400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:10314200-10314400	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr8:10314200-10314600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:10314200-10314600	Enhancers	Esophagus	oesophagus
47	chr8:10314200-10314600	Enhancers	K562	blood
48	chr8:10314200-10314800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:10314200-10314800	Enhancers	Fetal Stomach	stomach
50	chr8:10314400-10315200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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