Variant report

Variant	rs6993330
Chromosome Location	chr8:115618369-115618370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11988713	0.84[EUR][1000 genomes]
rs11995837	0.84[EUR][1000 genomes]
rs11996788	0.90[EUR][1000 genomes]
rs11998143	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140621	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140623	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17644345	0.84[EUR][1000 genomes]
rs17644385	0.84[EUR][1000 genomes]
rs17644465	0.84[EUR][1000 genomes]
rs17644560	0.84[EUR][1000 genomes]
rs17644578	0.84[EUR][1000 genomes]
rs17644857	0.84[EUR][1000 genomes]
rs17716101	0.84[EUR][1000 genomes]
rs17717004	0.84[EUR][1000 genomes]
rs17717105	0.84[EUR][1000 genomes]
rs17717179	0.84[EUR][1000 genomes]
rs17717228	0.83[EUR][1000 genomes]
rs28373052	0.84[EUR][1000 genomes]
rs28376828	0.84[EUR][1000 genomes]
rs28668274	0.84[EUR][1000 genomes]
rs28865001	0.84[EUR][1000 genomes]
rs28888712	0.84[EUR][1000 genomes]
rs4639552	0.84[EUR][1000 genomes]
rs66671867	0.84[EUR][1000 genomes]
rs72688119	0.84[EUR][1000 genomes]
rs72688122	0.84[EUR][1000 genomes]
rs72688150	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688152	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688153	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688154	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688155	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688156	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688157	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688158	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688160	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688182	0.82[EUR][1000 genomes]
rs72688196	0.90[EUR][1000 genomes]
rs72688199	0.90[EUR][1000 genomes]
rs72690215	0.89[EUR][1000 genomes]
rs7460670	0.84[EUR][1000 genomes]
rs931613	0.90[EUR][1000 genomes]
rs931614	0.90[EUR][1000 genomes]
rs9792319	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv611976	chr8:115261134-116223865	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv891367	chr8:115293861-115635630	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1018280	chr8:115307838-116189192	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv539726	chr8:115307838-116189192	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv891372	chr8:115351857-116037119	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv891373	chr8:115351857-116295809	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv891377	chr8:115395451-116110725	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1021511	chr8:115423794-115626389	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1851831	chr8:115430637-115656140	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv1844991	chr8:115450682-115723577	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1031156	chr8:115551507-115620846	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1018579	chr8:115555724-115620846	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1028687	chr8:115561602-115618764	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv1033963	chr8:115561602-115620846	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv438078	chr8:115584106-115654884	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv891387	chr8:115591466-115650409	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv508524	chr8:115600528-115657841	Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv1022992	chr8:115601763-115631424	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv1015198	chr8:115601763-115641719	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv1035026	chr8:115601763-115654756	Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv1022205	chr8:115602682-115642614	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv539728	chr8:115602682-115642614	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv611983	chr8:115603659-115642536	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv891388	chr8:115603659-115674664	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
25	nsv891389	chr8:115603659-115695166	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
26	nsv1030910	chr8:115605603-115631424	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv1029036	chr8:115605603-115632043	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv1028342	chr8:115611957-115656200	Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv539729	chr8:115611957-115656200	Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv6356	chr8:115618019-115668538	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115618000-115618400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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