Variant report

Variant	rs749709
Chromosome Location	chr2:31307222-31307223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10490518	0.84[EUR][1000 genomes]
rs10490519	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs10865087	0.88[EUR][1000 genomes]
rs11124238	0.81[EUR][1000 genomes]
rs11124241	0.84[EUR][1000 genomes]
rs1122261	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs12463945	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs12466133	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12471972	0.82[EUR][1000 genomes]
rs12993947	0.88[EUR][1000 genomes]
rs12994752	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13006348	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs13021484	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13023792	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13035341	0.97[EUR][1000 genomes]
rs1862976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1862977	0.80[ASN][1000 genomes]
rs1862978	0.80[ASN][1000 genomes]
rs1991105	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2113490	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2194464	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs2194465	0.88[EUR][1000 genomes]
rs2194470	0.90[EUR][1000 genomes]
rs2194471	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2216829	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs2365193	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2365195	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs2886303	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs3919588	0.84[EUR][1000 genomes]
rs4337517	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4630806	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6543601	0.83[CEU][hapmap]
rs6708428	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs6748774	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs6760378	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs749710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs749711	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]
rs7565904	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs7592634	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs880618	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31278200-31310800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:31288800-31308400	Weak transcription	Spleen	Spleen
3	chr2:31295600-31310200	Weak transcription	Primary B cells from cord blood	blood
4	chr2:31297400-31316400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:31301800-31307400	Weak transcription	Fetal Brain Female	brain
6	chr2:31302000-31321400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:31302600-31325200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:31303000-31307400	Weak transcription	Esophagus	oesophagus
9	chr2:31304000-31309200	Enhancers	Fetal Intestine Small	intestine
10	chr2:31304600-31309800	Enhancers	Fetal Intestine Large	intestine
11	chr2:31304800-31310200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:31305200-31311200	Weak transcription	HMEC	breast
13	chr2:31305400-31311200	Weak transcription	NHEK	skin
14	chr2:31305400-31311400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:31305400-31314000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:31306800-31307400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:31307000-31307600	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr2:31307200-31307400	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
19	chr2:31307200-31307600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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