Variant report

Variant	rs807302
Chromosome Location	chr6:119926751-119926752
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119926625..119928908-chr6:119933015..119935117,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11153833	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11153838	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11153840	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11962344	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11969898	0.88[EUR][1000 genomes]
rs12524607	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17238430	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17238563	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1977147	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2024733	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2794256	0.91[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.89[MEX][hapmap];0.87[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4245503	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4946431	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4946433	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4946434	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56279051	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62418741	0.83[EUR][1000 genomes]
rs62418744	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62418963	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62418964	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62418966	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62418970	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6902363	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6922474	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72963141	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72963152	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7738144	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7752178	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs807299	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs807303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs807309	0.81[ASN][1000 genomes]
rs809889	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs813955	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9285433	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9320697	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9385080	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9398517	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1027904	chr6:119709488-120001986	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv533518	chr6:119712186-119998618	ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3442553	chr6:119742069-120076777	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1027370	chr6:119869409-120056608	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv538431	chr6:119869409-120056608	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs807302	MAN1A1	cis	lymphoblastoid	seeQTL
rs807302	GPRC6A	cis	cerebellum	SCAN
rs807302	MAN1A1	cis	cerebellum	SCAN
rs807302	MAN1A1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119924800-119928000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:119924800-119931200	Weak transcription	NHDF-Ad	bronchial
3	chr6:119925000-119931200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:119925600-119932000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:119925800-119930200	Weak transcription	Pancreas	Pancrea

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