Variant report

Variant	rs205947
Chromosome Location	chr6:118493777-118493778
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11964013	0.82[JPT][hapmap]
rs11967448	0.82[JPT][hapmap]
rs1334829	0.82[JPT][hapmap]
rs1334835	0.82[JPT][hapmap]
rs150145	0.92[EUR][1000 genomes]
rs169542	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs172239	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs176168	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs205926	0.85[JPT][hapmap]
rs205928	0.85[JPT][hapmap];0.85[EUR][1000 genomes]
rs205929	0.92[EUR][1000 genomes]
rs205930	0.85[EUR][1000 genomes]
rs205931	0.92[EUR][1000 genomes]
rs205932	0.92[EUR][1000 genomes]
rs205933	0.85[EUR][1000 genomes]
rs205934	0.92[EUR][1000 genomes]
rs205935	0.85[EUR][1000 genomes]
rs205936	1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs205937	1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs205938	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs205939	1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs205940	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs205941	1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs205943	1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs205944	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs205945	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs205946	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs205948	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs205949	1.00[ASN][1000 genomes]
rs205953	1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs205954	0.92[EUR][1000 genomes]
rs205956	1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs205960	0.82[JPT][hapmap]
rs205964	0.82[JPT][hapmap]
rs205969	0.82[JPT][hapmap]
rs205970	0.82[JPT][hapmap]
rs205973	0.82[JPT][hapmap]
rs2105019	0.82[JPT][hapmap]
rs2484144	0.82[JPT][hapmap]
rs2484145	0.82[JPT][hapmap]
rs2484149	0.82[JPT][hapmap]
rs2501519	0.82[JPT][hapmap]
rs2859146	1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs2859147	0.82[JPT][hapmap]
rs441671	0.92[EUR][1000 genomes]
rs73523952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs928597	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv428153	chr6:118430517-118586974	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1030089	chr6:118436482-118604516	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv538427	chr6:118436482-118604516	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118486400-118494600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:118486400-118494600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:118488600-118494200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:118492200-118494200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:118493200-118494600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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