Variant report

Variant	rs1344618
Chromosome Location	chr8:69982901-69982902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:69766397..69768626-chr8:69981914..69983508,2	MCF-7	breast:
2	chr8:69982370..69984054-chr8:70022470..70024462,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238808	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10957461	0.90[AFR][1000 genomes]
rs11774986	0.90[AFR][1000 genomes]
rs13252637	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1344619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1365412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1365413	0.96[ASN][1000 genomes]
rs1365414	0.96[ASN][1000 genomes]
rs1365416	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1365417	1.00[ASN][1000 genomes]
rs1426595	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1541762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1559847	0.96[ASN][1000 genomes]
rs1559848	0.96[ASN][1000 genomes]
rs2042732	0.96[ASN][1000 genomes]
rs2042733	1.00[ASN][1000 genomes]
rs2042735	1.00[ASN][1000 genomes]
rs2217103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28437123	1.00[ASN][1000 genomes]
rs2912515	0.95[AFR][1000 genomes]
rs2912518	0.96[ASN][1000 genomes]
rs2912519	0.96[ASN][1000 genomes]
rs2912520	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2981041	1.00[ASN][1000 genomes]
rs2981043	0.96[ASN][1000 genomes]
rs2981044	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2981047	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2981053	0.90[AFR][1000 genomes]
rs2981062	0.90[EUR][1000 genomes]
rs2981066	0.90[AFR][1000 genomes]
rs34771267	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs473477	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[ASN][1000 genomes]
rs608067	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs609760	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[ASN][1000 genomes]
rs612423	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs623006	0.85[AFR][1000 genomes]
rs625096	0.99[ASN][1000 genomes]
rs62511793	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639293	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs6472438	0.96[ASN][1000 genomes]
rs7007693	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031633	chr8:69766575-70322790	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv890987	chr8:69959105-70004698	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	nsv1025578	chr8:69963284-69985807	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1344618	RRS1	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69979600-69985200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:69980200-69984600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:69980600-69984800	Enhancers	HSMM	muscle
4	chr8:69981000-69983200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:69981000-69983600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:69981200-69983400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:69981200-69985000	Enhancers	Osteobl	bone
8	chr8:69981400-69983000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:69981400-69983400	Enhancers	NHDF-Ad	bronchial
10	chr8:69982200-69983600	Enhancers	NHEK	skin
11	chr8:69982200-69984400	Enhancers	NHLF	lung
12	chr8:69982400-69983000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:69982400-69983200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr8:69982400-69988200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:69982600-69984400	Enhancers	HSMMtube	muscle
16	chr8:69982800-69983400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr8:69982800-69984400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:69982800-69984400	Enhancers	Hela-S3	cervix
19	chr8:69982800-69984400	Enhancers	HMEC	breast
20	chr8:69982800-69984600	Enhancers	NH-A	brain

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