Variant report

Variant	nsv890360
Chromosome Location	chr8:11619163-11639991
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:922)
CpG islands
(count:1160)
Chromatin interactive
region (count:38)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:922 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:11619843-11620241	K562	blood:	n/a	n/a
2	ARID3A	chr8:11623052-11623321	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:11627044-11627196	HepG2	liver:	n/a	n/a
4	ATF1	chr8:11619815-11620181	K562	blood:	n/a	n/a
5	ATF2	chr8:11625945-11626417	GM12878	blood:	n/a	n/a
6	BACH1	chr8:11626951-11627031	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL11A	chr8:11626077-11626278	GM12878	blood:	n/a	n/a
8	BCLAF1	chr8:11626877-11627490	GM12878	blood:	n/a	n/a
9	BHLHE40	chr8:11627801-11628033	GM12878	blood:	n/a	n/a
10	BHLHE40	chr8:11619781-11620296	K562	blood:	n/a	n/a
11	BHLHE40	chr8:11626976-11627341	GM12878	blood:	n/a	n/a
12	BHLHE40	chr8:11626943-11627906	K562	blood:	n/a	n/a
13	BHLHE40	chr8:11628279-11628385	K562	blood:	n/a	n/a
14	BRCA1	chr8:11622971-11623190	HepG2	liver:	n/a	n/a
15	BRCA1	chr8:11627304-11627384	HepG2	liver:	n/a	n/a
16	BRCA1	chr8:11627115-11627315	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr8:11623080-11623288	H1-hESC	embryonic stem cell:	n/a	n/a
18	BRCA1	chr8:11626030-11626119	HepG2	liver:	n/a	n/a
19	CBX3	chr8:11633504-11633851	K562	blood:	n/a	n/a
20	CBX3	chr8:11622882-11623304	K562	blood:	n/a	n/a
21	CBX3	chr8:11632475-11632851	K562	blood:	n/a	n/a
22	CBX3	chr8:11626970-11627413	K562	blood:	n/a	n/a
23	CCNT2	chr8:11619850-11620134	K562	blood:	n/a	n/a
24	CCNT2	chr8:11626895-11627742	K562	blood:	n/a	n/a
25	CEBPB	chr8:11627064-11627287	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr8:11632263-11632464	HepG2	liver:	n/a	n/a
27	CEBPD	chr8:11626866-11627454	HepG2	liver:	n/a	n/a
28	CHD1	chr8:11626753-11628586	IMR90	lung:	n/a	n/a
29	CHD1	chr8:11627102-11627471	GM12878	blood:	n/a	n/a
30	CHD2	chr8:11626907-11627622	K562	blood:	n/a	n/a
31	CHD2	chr8:11626892-11627926	Hela-S3	cervix:	n/a	n/a
32	CHD2	chr8:11627057-11627321	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr8:11628283-11628422	K562	blood:	n/a	n/a
34	CHD2	chr8:11627799-11627963	GM12878	blood:	n/a	n/a
35	CHD2	chr8:11628223-11628245	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr8:11626912-11627516	GM12878	blood:	n/a	n/a
37	CHD2	chr8:11622989-11623319	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr8:11626993-11627514	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr8:11628138-11628421	A549	lung:	n/a	n/a
40	CREB1	chr8:11626923-11627497	A549	lung:	n/a	n/a
41	CTBP2	chr8:11627016-11627549	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr8:11623060-11623210	Caco-2	colon:	n/a	n/a
43	CTCF	chr8:11623080-11623230	GM12867	blood:	n/a	n/a
44	CTCF	chr8:11623080-11623230	MCF-7	breast:	n/a	n/a
45	CTCF	chr8:11623080-11623230	GM12869	blood:	n/a	n/a
46	CTCF	chr8:11622957-11623311	T-47D	breast:	n/a	n/a
47	CTCF	chr8:11623040-11623190	GM12872	blood:	n/a	n/a
48	CTCF	chr8:11620100-11620250	A549	lung:	n/a	n/a
49	CTCF	chr8:11622965-11623306	Spleen_OC	spleen:	n/a	n/a
50	CTCF	chr8:11623100-11623250	GM12873	blood:	n/a	n/a

(count:1160 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11626510-11626560	GM06990	blood:	n/a
2	chr8:11626510-11626560	GM06990	blood:	n/a
3	chr8:11627473-11627523	HEEpiC	esophagus:	n/a
4	chr8:11623524-11623574	IMR90	lung:	fetal
5	chr8:11630219-11630269	HCF	heart:	n/a
6	chr8:11628346-11628396	K562	blood:	n/a
7	chr8:11627280-11627330	SK-N-SH_RA	brain:	n/a
8	chr8:11627012-11627062	SK-N-SH	brain:	n/a
9	chr8:11627280-11627330	SK-N-SH	brain:	n/a
10	chr8:11628430-11628480	SK-N-MC	brain:	n/a
11	chr8:11625883-11625933	PFSK-1	brain:	n/a
12	chr8:11630219-11630269	HIPEpiC	eye:	n/a
13	chr8:11627812-11627862	PrEC	prostate:	n/a
14	chr8:11625764-11625814	IMR90	lung:	fetal
15	chr8:11627124-11627174	MCF-7	breast:	n/a
16	chr8:11626984-11627034	NHBE	bronchial:	n/a
17	chr8:11627530-11627580	GM19239	blood:	n/a
18	chr8:11626510-11626560	Jurkat	blood:	n/a
19	chr8:11625883-11625933	MCF10A-Er-Src	breast:	n/a
20	chr8:11623524-11623574	SK-N-SH	brain:	n/a
21	chr8:11626984-11627034	U87	brain:	n/a
22	chr8:11625764-11625814	HRPEpiC	eye:	n/a
23	chr8:11627124-11627174	MCF10A-Er-Src	breast:	n/a
24	chr8:11627812-11627862	HEEpiC	esophagus:	n/a
25	chr8:11626984-11627034	SKMC	muscle:	n/a
26	chr8:11628346-11628396	IMR90	lung:	fetal
27	chr8:11623524-11623574	MCF-7	breast:	n/a
28	chr8:11626984-11627034	CMK	blood:	n/a
29	chr8:11627280-11627330	NHBE	bronchial:	n/a
30	chr8:11625764-11625814	PrEC	prostate:	n/a
31	chr8:11623524-11623574	AoSMC	blood vessel:	n/a
32	chr8:11625764-11625814	BE2_C	brain:	n/a
33	chr8:11619852-11619902	HCT-116	colon:	n/a
34	chr8:11626984-11627034	NH-A	brain:	n/a
35	chr8:11623524-11623574	GM12878	blood:	n/a
36	chr8:11625764-11625814	SK-N-MC	brain:	n/a
37	chr8:11626984-11627034	AG09309	skin:	n/a
38	chr8:11627058-11627108	GM19239	blood:	n/a
39	chr8:11630219-11630269	HL-60	blood:	n/a
40	chr8:11628346-11628396	Jurkat	blood:	n/a
41	chr8:11628430-11628480	AG09309	skin:	n/a
42	chr8:11626510-11626560	ProgFib	skin:	n/a
43	chr8:11630219-11630269	HCT-116	colon:	n/a
44	chr8:11627124-11627174	PANC-1	pancreas:	n/a
45	chr8:11627058-11627108	SK-N-MC	brain:	n/a
46	chr8:11619866-11619916	IMR90	lung:	fetal
47	chr8:11627058-11627108	GM12892	blood:	n/a
48	chr8:11627280-11627330	HL-60	blood:	n/a
49	chr8:11628430-11628480	PrEC	prostate:	n/a
50	chr8:11619852-11619902	AG09309	skin:	n/a

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11629548..11632235-chr8:11633790..11635730,3	MCF-7	breast:
2	chr5:42992943..42993905-chr8:11627464..11628186,2	Hela-S3	cervix:
3	chr8:11635165..11636835-chr8:11660450..11662194,2	MCF-7	breast:
4	chr8:11622903..11623629-chr8:11815893..11817036,5	K562	blood:
5	chr8:11618295..11620623-chr8:11664020..11665628,2	K562	blood:
6	chr8:11625866..11628884-chr8:11724599..11727626,3	MCF-7	breast:
7	chr8:11625910..11627647-chr8:11629398..11631179,2	MCF-7	breast:
8	chr8:11629063..11631875-chr8:11664082..11667656,3	MCF-7	breast:
9	chr8:11614600..11617057-chr8:11621350..11623693,3	K562	blood:
10	chr8:11625966..11628578-chr8:11704558..11706433,2	MCF-7	breast:
11	chr8:11625684..11627765-chr8:11645905..11648269,2	K562	blood:
12	chr8:11626206..11627819-chr8:11632812..11634390,2	MCF-7	breast:
13	chr8:11622902..11623629-chr8:11759456..11760412,3	MCF-7	breast:
14	chr8:11635229..11636009-chr8:11646882..11647706,2	MCF-7	breast:
15	chr8:11628184..11630862-chr8:11705136..11707099,2	K562	blood:
16	chr8:11587913..11588721-chr8:11635440..11636177,4	MCF-7	breast:
17	chr8:11625432..11628777-chr8:11664764..11667821,4	MCF-7	breast:
18	chr8:11628045..11631391-chr8:11641711..11643829,4	K562	blood:
19	chr8:11624899..11628797-chr8:11629919..11633105,4	K562	blood:
20	chr8:11636736..11639024-chr8:11663539..11665876,2	K562	blood:
21	chr8:11626972..11629777-chr8:11636747..11639183,2	MCF-7	breast:
22	chr8:11622669..11623564-chr8:11800869..11801753,3	K562	blood:
23	chr8:11587913..11588513-chr8:11635440..11636177,3	MCF-7	breast:
24	chr8:11626986..11628635-chr8:11724070..11726191,2	K562	blood:
25	chr8:11635191..11637008-chr8:11641548..11643752,2	K562	blood:
26	chr8:11637260..11639168-chr8:11645099..11647488,2	MCF-7	breast:
27	chr8:11629548..11632235-chr8:11633790..11635730,3	MCF-7	breast:
28	chr8:11613933..11616620-chr8:11622009..11623693,2	K562	blood:
29	chr8:11622750..11623420-chr8:11815244..11815854,2	MCF-7	breast:
30	chr8:11624784..11628111-chr8:11660073..11663416,4	MCF-7	breast:
31	chr8:11625967..11628744-chr8:11645697..11648212,2	MCF-7	breast:
32	chr8:11629021..11631913-chr8:11640649..11643733,4	K562	blood:
33	chr8:11625747..11629309-chr8:11658765..11661345,4	K562	blood:
34	chr8:11622652..11623752-chr8:11800899..11801806,5	MCF-7	breast:
35	chr8:11626596..11628658-chr8:11659514..11662088,3	K562	blood:
36	chr8:11619764..11620442-chr8:11816053..11817012,3	K562	blood:
37	chr8:11629053..11631703-chr8:11645453..11647397,2	K562	blood:
38	chr8:11636825..11638712-chr8:11641059..11643183,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf49-1	chr8:11619626-11620425	NONHSAT147620
2	lnc-C8orf49-1	chr8:11618765-11620732	NONHSAT125071

No data

Variant related genes	Relation type
NEIL2	TF binding region
NEIL2	CpG island
ENSG00000227203	chromatin interactions
ENSG00000255046	chromatin interactions
ENSG00000164733	chromatin interactions
ENSG00000136574	chromatin interactions
ENSG00000154328	chromatin interactions
ENSG00000079459	chromatin interactions

Extended variants
information (count: 1208 )
Associated
traits (count: 145 )

Variant overlapped rSNPs/rCNVs (count:1208 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs809204	chr8:11619163-11619164	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541295477	chr8:11619178-11619179	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs13281294	chr8:11619205-11619206	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs572285322	chr8:11619231-11619232	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs2740431	chr8:11619261-11619262	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs76499935	chr8:11619262-11619263	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs554624522	chr8:11619281-11619282	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs73663003	chr8:11619320-11619321	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs73663004	chr8:11619325-11619326	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs811966	chr8:11619334-11619335	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs371695174	chr8:11619338-11619339	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs146281548	chr8:11619370-11619371	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs36018280	chr8:11619397-11619398	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184301468	chr8:11619449-11619450	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs542665866	chr8:11619459-11619460	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs574607284	chr8:11619488-11619489	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs809203	chr8:11619504-11619505	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs190813664	chr8:11619546-11619547	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs531221030	chr8:11619553-11619554	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs372175297	chr8:11619607-11619608	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs2645455	chr8:11619635-11619636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs193053256	chr8:11619648-11619649	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs367796016	chr8:11619649-11619650	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs571886379	chr8:11619659-11619660	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs528652208	chr8:11619678-11619679	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs547226449	chr8:11619681-11619682	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs565750528	chr8:11619698-11619699	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs536378939	chr8:11619699-11619700	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs548150317	chr8:11619700-11619701	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs569588980	chr8:11619701-11619702	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs537348986	chr8:11619702-11619703	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs558524954	chr8:11619737-11619738	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs570731882	chr8:11619738-11619739	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs184455369	chr8:11619749-11619750	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs552771301	chr8:11619751-11619752	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs574572763	chr8:11619818-11619819	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs17153776	chr8:11619819-11619820	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547958831	chr8:11619820-11619821	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs375557365	chr8:11619822-11619823	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs188998426	chr8:11619853-11619854	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs181437122	chr8:11619871-11619872	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs111926919	chr8:11619889-11619890	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs369845249	chr8:11619905-11619906	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs528812468	chr8:11619908-11619909	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs146051699	chr8:11619918-11619919	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs562300452	chr8:11619944-11619945	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs17810696	chr8:11619948-11619949	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs7015453	chr8:11619986-11619987	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs530385258	chr8:11620014-11620015	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs552164277	chr8:11620021-11620022	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:145)

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
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	20164919	CNVD
Gastric cancer	22315472	CNVD
Gastric cancer	17229543	CNVD
Disorders of sex development	22290220	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1251 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11607000-11622800	Weak transcription	Stomach Mucosa	stomach
2	chr8:11608800-11619400	Strong transcription	Duodenum Mucosa	Duodenum
3	chr8:11610600-11621200	Strong transcription	Fetal Intestine Small	intestine
4	chr8:11614400-11619200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:11615800-11626800	Weak transcription	Left Ventricle	heart
6	chr8:11617000-11622800	Weak transcription	Fetal Heart	heart
7	chr8:11617000-11623000	Weak transcription	Placenta	Placenta
8	chr8:11617000-11626800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:11617200-11619400	Weak transcription	HSMMtube	muscle
10	chr8:11617200-11619600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:11617400-11619200	Weak transcription	Right Ventricle	heart
12	chr8:11617400-11619400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:11617400-11619400	Weak transcription	HSMM	muscle
14	chr8:11617400-11620000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:11617400-11622800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr8:11617400-11623200	Weak transcription	HepG2	liver
17	chr8:11617400-11626000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:11617400-11626400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr8:11617400-11626800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:11617800-11619200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:11618000-11626000	Weak transcription	Pancreas	Pancrea
22	chr8:11618000-11626800	Weak transcription	Fetal Intestine Large	intestine
23	chr8:11618200-11619200	Weak transcription	Gastric	stomach
24	chr8:11618200-11619400	Enhancers	NH-A	brain
25	chr8:11618400-11623000	Weak transcription	Liver	Liver
26	chr8:11618600-11619400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:11618600-11619800	Weak transcription	Ovary	ovary
28	chr8:11618800-11619400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:11618800-11620800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:11619000-11619200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:11619000-11619600	Enhancers	K562	blood
32	chr8:11619000-11620200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:11619000-11621800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:11619200-11619600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:11619200-11619600	Strong transcription	Gastric	stomach
36	chr8:11619200-11620000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr8:11619200-11620000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:11619200-11620400	Enhancers	Right Ventricle	heart
39	chr8:11619200-11620400	Enhancers	HMEC	breast
40	chr8:11619200-11620400	Enhancers	NHLF	lung
41	chr8:11619200-11620600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:11619200-11621000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:11619400-11619600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr8:11619400-11619600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr8:11619400-11619600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr8:11619400-11619600	Enhancers	A549	lung
47	chr8:11619400-11619600	Enhancers	HUVEC	blood vessel
48	chr8:11619400-11619600	Flanking Active TSS	NHDF-Ad	bronchial
49	chr8:11619400-11619600	Enhancers	Osteobl	bone
50	chr8:11619400-11619800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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