Variant report

Variant	rs2436964
Chromosome Location	chr8:103649935-103649936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103647316..103650383-chr8:103652114..103655661,3	K562	blood:
2	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
3	chr8:103423870..103425519-chr8:103649050..103651259,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs2436928	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs2436951	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2436952	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2436955	0.87[ASN][1000 genomes]
rs2436956	0.91[ASN][1000 genomes]
rs2436957	0.91[ASN][1000 genomes]
rs2436958	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2436959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2436960	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2436962	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2436963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2436965	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2436967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2436969	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511656	0.87[ASN][1000 genomes]
rs2511659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2511663	0.91[ASN][1000 genomes]
rs2511666	0.87[ASN][1000 genomes]
rs2511722	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66485119	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981411	0.93[CHB][hapmap];0.89[CHD][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs873780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103644800-103650000	Enhancers	Placenta	Placenta
2	chr8:103644800-103659600	Weak transcription	Spleen	Spleen
3	chr8:103645600-103660000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:103647000-103661600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:103647000-103662000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:103647000-103662000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:103648200-103661800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:103649000-103659800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:103649600-103650000	Enhancers	Stomach Smooth Muscle	stomach
10	chr8:103649600-103650200	Enhancers	Colon Smooth Muscle	Colon
11	chr8:103649600-103659800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:103649800-103650200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr8:103649800-103662000	Weak transcription	Fetal Stomach	stomach

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