Variant report

Variant	rs6994438
Chromosome Location	chr8:4452894-4452895
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10503265	0.81[CEU][hapmap];0.95[CHB][hapmap]
rs12677479	0.83[CHB][hapmap]
rs13259249	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs13259583	0.92[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap]
rs13279272	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2617086	0.92[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap]
rs2617087	0.92[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap]
rs2617089	0.92[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap]
rs2617091	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2617092	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs2724980	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap]
rs2724981	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap]
rs2724982	0.92[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap]
rs2724984	0.93[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap]
rs4875365	0.93[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap]
rs4875368	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6990157	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs6994432	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv889960	chr8:4395685-4489552	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv465384	chr8:4413282-4512135	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv609857	chr8:4413282-4512135	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv428513	chr8:4435878-4613986	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv889961	chr8:4439823-4455794	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
8	esv1844135	chr8:4442963-4602387	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv528058	chr8:4445174-4466042	Enhancers	n/a	n/a	inside rSNPs	diseases
10	nsv465385	chr8:4447059-4465101	Enhancers	n/a	n/a	inside rSNPs	diseases
11	nsv609858	chr8:4447059-4465101	Enhancers	n/a	n/a	inside rSNPs	diseases
12	nsv437589	chr8:4449135-4466042	Enhancers	n/a	n/a	inside rSNPs	diseases
13	nsv609859	chr8:4452129-4463623	Enhancers	n/a	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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