Variant report

Variant	rs11992223
Chromosome Location	chr8:4089132-4089133
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10091948	0.84[EUR][1000 genomes]
rs10094300	0.83[GIH][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap]
rs10104908	0.85[EUR][1000 genomes]
rs10108686	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11992222	0.83[GIH][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap]
rs11993028	0.83[GIH][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap]
rs12334711	0.95[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap]
rs13272378	0.82[GIH][hapmap];0.83[EUR][1000 genomes]
rs13280268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs13439511	0.81[CEU][hapmap]
rs1394481	0.81[CEU][hapmap]
rs1401483	0.83[GIH][hapmap]
rs1647317	0.81[CEU][hapmap]
rs1700040	0.80[EUR][1000 genomes]
rs1700046	0.86[CEU][hapmap];0.95[CHB][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1700047	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1700049	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.93[JPT][hapmap];0.83[MEX][hapmap]
rs1700051	0.89[CEU][hapmap];0.80[CHB][hapmap];0.84[JPT][hapmap]
rs1700055	0.88[GIH][hapmap]
rs1700068	0.81[CEU][hapmap];0.80[GIH][hapmap]
rs1714676	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1714683	0.80[LWK][hapmap]
rs1714821	0.90[CHB][hapmap];0.87[CHD][hapmap];0.92[GIH][hapmap];0.83[MEX][hapmap]
rs1714822	0.95[CHB][hapmap]
rs2407314	0.81[CEU][hapmap]
rs28573165	0.92[ASN][1000 genomes]
rs3849844	0.81[CEU][hapmap];0.89[GIH][hapmap]
rs4461921	0.81[CEU][hapmap]
rs57236306	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7822178	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.93[JPT][hapmap]
rs7828683	0.86[CEU][hapmap];0.87[GIH][hapmap]
rs7829008	0.81[CEU][hapmap]
rs7834905	0.86[CEU][hapmap];0.86[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949269	chr8:3556145-4246903	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv530863	chr8:3710810-4381378	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv889924	chr8:3828138-4180844	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1015148	chr8:3889535-4103403	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv539366	chr8:3889535-4103403	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv530531	chr8:3942575-4605088	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv831213	chr8:3965026-4127303	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1034771	chr8:3969767-4255716	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1022900	chr8:3979200-4098778	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv539376	chr8:3979200-4098778	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1028911	chr8:4026505-4139686	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1030282	chr8:4026751-4100659	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv889939	chr8:4033186-4718648	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1032685	chr8:4040574-4134994	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv523605	chr8:4041356-4108050	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv609817	chr8:4052459-4134874	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv2422512	chr8:4052638-4127242	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv1019627	chr8:4054508-4130522	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv539380	chr8:4054508-4130522	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv1032367	chr8:4056920-4100659	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv539381	chr8:4056920-4100659	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv1032488	chr8:4072826-4328057	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv1031418	chr8:4082666-4127764	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv6055	chr8:4087118-4133155	Enhancers Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv1033699	chr8:4088107-4130383	Enhancers Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv539382	chr8:4088107-4130383	Enhancers Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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