Variant report

Variant	rs6794945
Chromosome Location	chr3:133518463-133518464
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133291154..133293321-chr3:133517816..133520138,2	K562	blood:
2	chr3:133517964..133521381-chr3:133522312..133525041,6	K562	blood:
3	chr3:133514253..133517392-chr3:133517467..133520462,3	K562	blood:
4	chr3:133515847..133517591-chr3:133517895..133520408,2	MCF-7	breast:
5	chr3:133515552..133517392-chr3:133517467..133520054,2	K562	blood:

Variant related genes	Relation type
ENSG00000144867	Chromatin interaction
ENSG00000091527	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11710936	1.00[CHB][hapmap]
rs12490148	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12595	0.91[CEU][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13079426	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1525889	0.88[CEU][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1534165	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs1830083	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1830084	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293375	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs34252038	0.81[EUR][1000 genomes]
rs34805309	0.80[EUR][1000 genomes]
rs35332919	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811647	0.88[CEU][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs3811658	0.85[CHB][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap]
rs4854760	0.88[CEU][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4854761	0.88[CEU][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4854762	0.80[CEU][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6439439	0.80[EUR][1000 genomes]
rs6762719	0.80[EUR][1000 genomes]
rs73217233	0.85[ASN][1000 genomes]
rs7638018	0.88[CEU][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8177224	0.91[MEX][hapmap]
rs8177240	0.88[CEU][hapmap];0.85[CHB][hapmap]
rs8177245	0.80[EUR][1000 genomes]
rs8177247	0.80[EUR][1000 genomes]
rs8177248	0.88[CEU][hapmap];0.85[CHB][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.80[EUR][1000 genomes]
rs8177252	0.88[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap];0.80[EUR][1000 genomes]
rs8177253	0.88[CEU][hapmap];0.85[CHB][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];0.80[EUR][1000 genomes]
rs8177256	0.80[EUR][1000 genomes]
rs8177259	0.80[EUR][1000 genomes]
rs8177261	0.80[EUR][1000 genomes]
rs8177262	0.88[CEU][hapmap];0.85[CHB][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.80[EUR][1000 genomes]
rs8177271	0.81[EUR][1000 genomes]
rs8177272	0.88[CEU][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs9813689	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9843728	0.84[CEU][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9871148	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9882812	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv877506	chr3:133423473-133569777	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS 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	9 gene(s)	inside rSNPs	diseases
4	nsv4018	chr3:133485867-133530668	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6794945	SRPRB	cis	multi-tissue	Pritchard

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133516600-133518600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:133516600-133518600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:133517000-133518600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:133517000-133519000	Weak transcription	Brain Substantia Nigra	brain
5	chr3:133517200-133518600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:133517200-133518600	Weak transcription	HMEC	breast
7	chr3:133517200-133518800	Weak transcription	Hela-S3	cervix
8	chr3:133517400-133518600	Weak transcription	NHEK	skin

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