Variant report

Variant	rs13245197
Chromosome Location	chr7:48603497-48603498
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10231745	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10232169	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10248476	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10250415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11185607	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12531822	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1569095	0.84[CEU][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1574070	0.82[CEU][hapmap];0.90[YRI][hapmap]
rs1918607	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1918614	0.84[CEU][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2178089	0.84[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2362309	0.80[AFR][1000 genomes]
rs2362314	0.84[CEU][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4917022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4917159	0.84[CEU][hapmap];0.90[YRI][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6583451	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6945654	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6977837	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7778846	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7799014	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];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7806738	0.84[CEU][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[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	nsv830992	chr7:48497408-48686442	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv888008	chr7:48568425-48652224	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
3	esv275242	chr7:48592013-48605608	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48600400-48634200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:48602600-48603800	Enhancers	HMEC	breast
3	chr7:48602800-48603800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:48602800-48603800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:48603000-48603600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:48603000-48603600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr7:48603000-48603600	Enhancers	NHEK	skin
8	chr7:48603000-48603800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:48603000-48603800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:48603400-48603600	Enhancers	Primary neutrophils fromperipheralblood	blood

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