Variant report

Variant	rs12618322
Chromosome Location	chr2:187570517-187570518
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187569295..187572206-chr2:187573308..187575633,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10165992	0.92[CEU][hapmap];0.89[CHB][hapmap];0.88[EUR][1000 genomes]
rs1072901	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs10755000	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10931253	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12475476	0.94[CHB][hapmap]
rs12620821	1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13020260	0.88[CHB][hapmap]
rs13028008	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1448427	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs17406229	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17406346	0.88[CHB][hapmap];0.80[ASN][1000 genomes]
rs2012128	0.85[EUR][1000 genomes]
rs2121975	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2121976	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2276562	0.81[ASN][1000 genomes]
rs2460766	0.83[EUR][1000 genomes]
rs2595383	0.84[EUR][1000 genomes]
rs2595386	0.85[EUR][1000 genomes]
rs2595395	0.92[CEU][hapmap];0.88[CHB][hapmap];0.88[EUR][1000 genomes]
rs2682863	0.86[EUR][1000 genomes]
rs2682868	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2682873	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3213964	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs34056045	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34840521	0.86[ASN][1000 genomes]
rs35348196	0.86[ASN][1000 genomes]
rs3768785	0.87[CHB][hapmap]
rs3816375	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs4667108	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs4667113	0.81[ASN][1000 genomes]
rs55961288	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56222785	0.82[ASN][1000 genomes]
rs62173041	0.80[ASN][1000 genomes]
rs6705757	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs718259	0.89[CHB][hapmap]
rs7585442	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs7585471	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs930657	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9789704	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr2:187560400-187579400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:187560600-187575400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:187560600-187582200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:187560600-187584200	Weak transcription	Fetal Lung	lung
5	chr2:187561400-187577800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:187567000-187574800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:187567400-187581400	Weak transcription	Fetal Brain Female	brain
8	chr2:187568600-187571800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:187569200-187571000	Enhancers	Brain Substantia Nigra	brain
10	chr2:187569400-187570600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:187569400-187571200	Enhancers	Brain Cingulate Gyrus	brain
12	chr2:187569600-187571000	Enhancers	Brain Anterior Caudate	brain
13	chr2:187570000-187570600	Enhancers	Brain Hippocampus Middle	brain
14	chr2:187570000-187570600	Enhancers	Fetal Brain Male	brain
15	chr2:187570000-187572000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:187570000-187572400	Enhancers	Brain Angular Gyrus	brain
17	chr2:187570200-187578400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links