Variant report

Variant	rs12993947
Chromosome Location	chr2:31309887-31309888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10490518	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10490519	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10865087	0.85[EUR][1000 genomes]
rs11124238	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11124241	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1122261	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12466133	0.81[EUR][1000 genomes]
rs12471972	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12994752	0.86[EUR][1000 genomes]
rs13006348	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13021484	0.84[EUR][1000 genomes]
rs13023792	0.86[EUR][1000 genomes]
rs13035341	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1862976	0.86[EUR][1000 genomes]
rs1991105	0.91[EUR][1000 genomes]
rs2113490	0.90[EUR][1000 genomes]
rs2194464	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2194465	0.86[EUR][1000 genomes]
rs2194470	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2194471	0.85[EUR][1000 genomes]
rs2216829	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2365193	0.90[EUR][1000 genomes]
rs2365195	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2365204	0.82[EUR][1000 genomes]
rs2886303	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3919588	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4337517	0.90[EUR][1000 genomes]
rs4630806	0.81[EUR][1000 genomes]
rs6708428	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6748774	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6760378	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs749709	0.88[EUR][1000 genomes]
rs749710	0.87[EUR][1000 genomes]
rs749711	0.88[EUR][1000 genomes]
rs7565904	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7586148	0.81[EUR][1000 genomes]
rs7592634	0.88[EUR][1000 genomes]
rs880618	0.91[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:17 , 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	chr2:31295600-31310200	Weak transcription	Primary B cells from cord blood	blood
3	chr2:31297400-31316400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:31302000-31321400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:31302600-31325200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:31304800-31310200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:31305200-31311200	Weak transcription	HMEC	breast
8	chr2:31305400-31311200	Weak transcription	NHEK	skin
9	chr2:31305400-31311400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:31305400-31314000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:31307400-31331600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:31307600-31310400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:31309200-31310200	Weak transcription	Fetal Intestine Small	intestine
14	chr2:31309200-31310600	Enhancers	Fetal Kidney	kidney
15	chr2:31309400-31310200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:31309400-31311200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:31309800-31310200	Weak transcription	Fetal Intestine Large	intestine

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