Variant report

Variant	rs510422
Chromosome Location	chr6:85839320-85839321
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12213780	0.80[ASN][1000 genomes]
rs12664883	0.99[ASN][1000 genomes]
rs1321723	1.00[ASN][1000 genomes]
rs1321734	0.81[ASN][1000 genomes]
rs1321735	0.80[ASN][1000 genomes]
rs1321736	0.80[ASN][1000 genomes]
rs1407159	0.81[ASN][1000 genomes]
rs1407161	0.80[ASN][1000 genomes]
rs16875756	0.85[LWK][hapmap]
rs1926019	0.81[ASN][1000 genomes]
rs2146272	0.80[ASN][1000 genomes]
rs4141965	0.80[ASN][1000 genomes]
rs486470	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504392	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs505007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536094	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541665	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs562034	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs563365	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs563639	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572893	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs575779	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs618586	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs633322	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs662760	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6911391	0.81[CHB][hapmap];0.89[CHD][hapmap]
rs6925525	0.80[ASN][1000 genomes]
rs7745528	0.81[ASN][1000 genomes]
rs7748912	0.95[CHB][hapmap]
rs7768040	0.80[ASN][1000 genomes]
rs9342008	0.95[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017418	chr6:85344786-86259540	Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv538347	chr6:85344786-86259540	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs510422	SNAP91	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:85837600-85840400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:85837600-85845600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:85837800-85839600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:85838000-85840800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:85838400-85839600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:85838400-85839800	Enhancers	NHDF-Ad	bronchial
7	chr6:85838800-85842600	Enhancers	Osteobl	bone

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