Variant report

Variant	rs869283
Chromosome Location	chr2:234626287-234626288
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10167119	0.96[CEU][hapmap]
rs10168155	0.81[CEU][hapmap]
rs10168333	0.81[CEU][hapmap]
rs10171367	0.81[CEU][hapmap]
rs10175809	0.81[CEU][hapmap]
rs10178992	0.92[CEU][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs10179094	0.96[CEU][hapmap]
rs10180090	0.94[EUR][1000 genomes]
rs10197460	0.96[CEU][hapmap]
rs10445704	0.81[CEU][hapmap]
rs10929302	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs11673726	0.92[CEU][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs11680450	0.81[CEU][hapmap]
rs11695484	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs11888459	0.92[CEU][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs11891311	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11902131	0.81[CEU][hapmap]
rs12623271	0.81[CEU][hapmap]
rs13002774	0.81[CEU][hapmap]
rs13015720	0.81[CEU][hapmap]
rs13401281	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13410335	0.81[ASN][1000 genomes]
rs17862875	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17864701	0.82[ASN][1000 genomes]
rs1875263	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1983023	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2018985	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2885296	0.81[ASN][1000 genomes]
rs34352510	0.85[ASN][1000 genomes]
rs3806592	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148324	0.86[JPT][hapmap]
rs4148325	0.86[JPT][hapmap]
rs4261716	0.81[CEU][hapmap]
rs4341922	0.85[ASN][1000 genomes]
rs4347832	0.81[CEU][hapmap]
rs4477910	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4530361	1.00[CEU][hapmap]
rs4553819	0.81[CEU][hapmap]
rs6431625	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6714634	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs6722076	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6724485	0.81[CEU][hapmap]
rs6725478	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6736508	0.81[CEU][hapmap]
rs6736743	0.81[CEU][hapmap]
rs6742078	0.86[JPT][hapmap]
rs6744284	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6747843	0.81[ASN][1000 genomes]
rs6749496	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753320	0.81[CEU][hapmap]
rs6753569	0.81[CEU][hapmap]
rs6759892	0.81[CEU][hapmap]
rs7563561	0.81[CEU][hapmap]
rs7564935	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7567468	0.86[ASN][1000 genomes]
rs7577677	0.96[CEU][hapmap]
rs7583278	1.00[CEU][hapmap]
rs7586110	0.96[CEU][hapmap]
rs7604115	0.91[CEU][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs7608175	0.81[CEU][hapmap]
rs887829	0.86[JPT][hapmap]
rs929596	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv1010936	chr2:234549011-234640221	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	esv2760615	chr2:234613030-234640233	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv963781	chr2:234618109-234626863	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv876017	chr2:234618243-234626972	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv3382515	chr2:234620643-234626555	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv3448604	chr2:234622257-234628221	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3460836	chr2:234623884-234634466	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv3460837	chr2:234624010-234634422	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234617800-234631600	Weak transcription	Gastric	stomach
2	chr2:234620400-234659200	Weak transcription	Colonic Mucosa	Colon
3	chr2:234620600-234652200	Weak transcription	Esophagus	oesophagus
4	chr2:234622200-234627400	Weak transcription	Fetal Intestine Small	intestine
5	chr2:234625000-234626400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:234625600-234626600	Strong transcription	NHEK	skin
7	chr2:234625800-234626600	Enhancers	Liver	Liver
8	chr2:234626000-234634600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:234626200-234627800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:234626200-234649600	Weak transcription	Rectal Mucosa Donor 29	rectum

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