Variant report

Variant	rs6543601
Chromosome Location	chr2:31336098-31336099
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10175305	0.80[EUR][1000 genomes]
rs10188244	0.84[EUR][1000 genomes]
rs10490518	0.86[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap]
rs10490519	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs10865087	0.82[EUR][1000 genomes]
rs11124238	0.86[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap]
rs11124240	0.80[EUR][1000 genomes]
rs1122261	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs12463945	0.82[CEU][hapmap]
rs12611788	0.92[JPT][hapmap]
rs12621308	0.85[JPT][hapmap]
rs12712310	0.82[EUR][1000 genomes]
rs12994752	0.82[CEU][hapmap]
rs12996218	0.82[EUR][1000 genomes]
rs12998805	0.84[JPT][hapmap]
rs13003016	0.83[CHB][hapmap]
rs13006348	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs13021484	0.93[CEU][hapmap]
rs13023792	0.82[CEU][hapmap]
rs13029054	0.82[EUR][1000 genomes]
rs13035341	0.80[ASN][1000 genomes]
rs1862975	0.83[EUR][1000 genomes]
rs1862976	0.82[CEU][hapmap]
rs1991104	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs1991105	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs2113490	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs2161832	0.82[EUR][1000 genomes]
rs2161833	0.82[EUR][1000 genomes]
rs2194464	0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2194465	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2194467	0.80[EUR][1000 genomes]
rs2194468	0.80[EUR][1000 genomes]
rs2194469	0.80[EUR][1000 genomes]
rs2216829	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2365193	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs2365195	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs2365204	0.87[ASN][1000 genomes]
rs2365205	0.81[EUR][1000 genomes]
rs2365206	0.85[EUR][1000 genomes]
rs2886303	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs2886304	0.84[JPT][hapmap]
rs35285211	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3919588	0.86[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap]
rs4337517	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs6543602	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6708428	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs6709814	0.80[EUR][1000 genomes]
rs6729079	0.83[EUR][1000 genomes]
rs6748774	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs6760378	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs6760532	0.80[EUR][1000 genomes]
rs6760971	0.80[EUR][1000 genomes]
rs749709	0.83[CEU][hapmap]
rs749710	0.83[CEU][hapmap]
rs749711	0.82[CEU][hapmap]
rs7565904	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs7582458	0.84[JPT][hapmap]
rs7583033	0.82[EUR][1000 genomes]
rs7583218	0.82[EUR][1000 genomes]
rs7592634	0.86[CEU][hapmap]
rs7600547	0.82[EUR][1000 genomes]
rs880618	0.85[CEU][hapmap];0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers 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

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31310600-31346800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:31320600-31337800	Weak transcription	Primary B cells from cord blood	blood
3	chr2:31329000-31336400	Weak transcription	Spleen	Spleen
4	chr2:31329200-31348200	Weak transcription	A549	lung
5	chr2:31331200-31336200	Weak transcription	Lung	lung
6	chr2:31332200-31336400	Weak transcription	Brain Germinal Matrix	brain
7	chr2:31332400-31347400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:31332600-31348600	Weak transcription	NHEK	skin
9	chr2:31332600-31348800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:31332600-31349000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:31332600-31349000	Weak transcription	HMEC	breast
12	chr2:31332800-31346600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:31334600-31336200	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:31335000-31336200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:31335000-31336400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:31335200-31344600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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