Variant report

Variant	rs816371
Chromosome Location	chr6:53996749-53996750
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10948797	1.00[JPT][hapmap]
rs1150873	0.86[CEU][hapmap]
rs1298143	0.84[CEU][hapmap]
rs1417390	0.93[CEU][hapmap]
rs16884654	1.00[JPT][hapmap]
rs17681477	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2754813	0.85[CEU][hapmap]
rs2792644	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs2894817	1.00[JPT][hapmap]
rs3957360	0.85[CEU][hapmap]
rs499594	0.96[YRI][hapmap]
rs526144	1.00[JPT][hapmap]
rs557018	1.00[JPT][hapmap]
rs581785	1.00[JPT][hapmap]
rs641426	1.00[JPT][hapmap]
rs673471	1.00[JPT][hapmap]
rs689298	1.00[JPT][hapmap]
rs6939568	0.86[CEU][hapmap]
rs7766702	1.00[JPT][hapmap]
rs816370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816386	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs843827	0.85[CEU][hapmap]
rs9382278	1.00[JPT][hapmap]
rs9464035	0.82[CEU][hapmap]
rs961290	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2759431	chr6:53839373-54007349	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv603110	chr6:53885918-54103794	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv885885	chr6:53920024-54046264	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1017633	chr6:53935336-54118476	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2757169	chr6:53951857-54007349	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv885886	chr6:53956877-54009067	Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv885887	chr6:53961784-54046264	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv2829860	chr6:53985339-54005043	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1851754	chr6:53989526-54050219	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53986200-54000600	Weak transcription	HUVEC	blood vessel
2	chr6:53986400-54000000	Weak transcription	Fetal Heart	heart
3	chr6:53989600-54001600	Weak transcription	Right Ventricle	heart
4	chr6:53989800-54003800	Weak transcription	Fetal Muscle Leg	muscle
5	chr6:53990600-53998000	Weak transcription	Liver	Liver
6	chr6:53995200-53997600	Weak transcription	Right Atrium	heart
7	chr6:53995400-53997600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:53996400-53999000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr6:53996600-53996800	Enhancers	Left Ventricle	heart
10	chr6:53996600-53997000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:53996600-53997600	Genic enhancers	Psoas Muscle	Psoas

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