Variant report

Variant	rs7601239
Chromosome Location	chr2:183316163-183316164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10180347	1.00[EUR][1000 genomes]
rs10497596	1.00[EUR][1000 genomes]
rs11884145	1.00[EUR][1000 genomes]
rs11887150	1.00[EUR][1000 genomes]
rs11888602	1.00[EUR][1000 genomes]
rs11891405	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11891890	1.00[EUR][1000 genomes]
rs11892984	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11893859	1.00[EUR][1000 genomes]
rs11899043	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11900878	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11902391	1.00[EUR][1000 genomes]
rs11903131	1.00[EUR][1000 genomes]
rs13422439	1.00[EUR][1000 genomes]
rs1405945	1.00[EUR][1000 genomes]
rs16823120	1.00[EUR][1000 genomes]
rs16823144	1.00[EUR][1000 genomes]
rs16823168	1.00[EUR][1000 genomes]
rs16823171	1.00[EUR][1000 genomes]
rs16823184	1.00[EUR][1000 genomes]
rs16823199	1.00[EUR][1000 genomes]
rs16823220	1.00[EUR][1000 genomes]
rs16823249	1.00[EUR][1000 genomes]
rs16823277	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16823319	1.00[EUR][1000 genomes]
rs16823398	1.00[EUR][1000 genomes]
rs34384812	1.00[EUR][1000 genomes]
rs34558843	1.00[EUR][1000 genomes]
rs35196240	1.00[EUR][1000 genomes]
rs36105371	1.00[EUR][1000 genomes]
rs4420678	1.00[EUR][1000 genomes]
rs4621137	1.00[EUR][1000 genomes]
rs57267003	1.00[EUR][1000 genomes]
rs61069172	1.00[EUR][1000 genomes]
rs6724256	1.00[EUR][1000 genomes]
rs6725460	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6731573	1.00[EUR][1000 genomes]
rs6752224	1.00[EUR][1000 genomes]
rs6761101	1.00[EUR][1000 genomes]
rs73042483	1.00[EUR][1000 genomes]
rs73045406	1.00[EUR][1000 genomes]
rs73045415	1.00[EUR][1000 genomes]
rs73045418	1.00[EUR][1000 genomes]
rs73045422	1.00[EUR][1000 genomes]
rs73045434	1.00[EUR][1000 genomes]
rs73048386	1.00[EUR][1000 genomes]
rs73050409	1.00[EUR][1000 genomes]
rs73975018	1.00[EUR][1000 genomes]
rs7576178	1.00[EUR][1000 genomes]
rs7581210	1.00[EUR][1000 genomes]
rs825654	1.00[EUR][1000 genomes]
rs991927	1.00[EUR][1000 genomes]
rs994155	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv834481	chr2:183189758-183339577	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv2830429	chr2:183300759-183545378	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3323574	chr2:183315057-183317155	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
6	esv2479479	chr2:183315368-183316896	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
7	esv3322767	chr2:183315607-183316605	Weak transcription	n/a	n/a	inside rSNPs	diseases
8	esv2241730	chr2:183315617-183316309	Weak transcription	n/a	n/a	inside rSNPs	diseases
9	esv3458818	chr2:183315687-183316215	Weak transcription	n/a	n/a	inside rSNPs	diseases
10	esv3514656	chr2:183315706-183316224	Weak transcription	n/a	n/a	inside rSNPs	diseases
11	esv3514660	chr2:183315709-183316228	Weak transcription	n/a	n/a	inside rSNPs	diseases
12	esv3514657	chr2:183315728-183316164	Weak transcription	n/a	n/a	inside rSNPs	diseases
13	esv7845	chr2:183315731-183316385	Weak transcription	n/a	n/a	inside rSNPs	diseases
14	esv3458817	chr2:183315743-183316191	Weak transcription	n/a	n/a	inside rSNPs	diseases
15	esv3458821	chr2:183315750-183316192	Weak transcription	n/a	n/a	inside rSNPs	diseases
16	esv2874	chr2:183315758-183316178	Weak transcription	n/a	n/a	inside rSNPs	diseases
17	esv3514658	chr2:183315761-183316184	Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183298800-183320800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:183313000-183321400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:183313000-183342600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:183313800-183320800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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