Variant report

Variant	rs17334422
Chromosome Location	chr2:187576877-187576878
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187575138..187577104-chr2:187577435..187579000,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10171481	0.80[CHB][hapmap]
rs10804007	0.85[CHB][hapmap]
rs11678190	1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11683898	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685758	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12151442	1.00[CHB][hapmap];0.85[JPT][hapmap];0.94[YRI][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12615659	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12998294	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13001028	1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13006483	1.00[CHB][hapmap]
rs13006571	0.85[CHB][hapmap]
rs13016261	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13027560	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13028817	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13030356	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13033579	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1448424	1.00[CHB][hapmap]
rs17334303	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17406339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17750683	0.85[JPT][hapmap]
rs1839123	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1839124	0.87[ASN][1000 genomes]
rs1992898	0.85[CHB][hapmap]
rs2084448	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2165656	0.80[CHB][hapmap]
rs2197138	0.85[CHB][hapmap]
rs2197787	0.84[CHB][hapmap]
rs2370693	0.85[CHB][hapmap]
rs2595375	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[EUR][1000 genomes]
rs2887827	0.85[CHB][hapmap]
rs34483988	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs34521209	0.86[ASN][1000 genomes]
rs35055112	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35251833	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35986780	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36117902	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3768778	0.85[CHB][hapmap]
rs3768780	0.80[CHB][hapmap]
rs3816386	1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3911084	0.85[CHB][hapmap]
rs4233788	0.85[CHB][hapmap]
rs58644770	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6717512	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741369	0.85[CHB][hapmap]
rs7419327	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7589470	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs7593018	0.93[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7596996	0.80[CHB][hapmap]
rs9333287	0.80[CHB][hapmap]
rs9333288	0.85[CHB][hapmap]
rs9333289	1.00[CHB][hapmap]
rs9789682	0.84[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs998972	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][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	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
3	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 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	chr2:187560400-187579400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:187560600-187582200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:187560600-187584200	Weak transcription	Fetal Lung	lung
4	chr2:187561400-187577800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:187567400-187581400	Weak transcription	Fetal Brain Female	brain
6	chr2:187570200-187578400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:187570600-187577600	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:187570600-187578800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:187571000-187577000	Weak transcription	Brain Substantia Nigra	brain
10	chr2:187571200-187577600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:187572400-187577000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:187573000-187578800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:187574000-187577800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:187575000-187580000	Enhancers	Brain Angular Gyrus	brain
15	chr2:187576200-187577000	Weak transcription	Brain Anterior Caudate	brain
16	chr2:187576200-187582600	Enhancers	Cortex derived primary cultured neurospheres	brain

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