Variant report

Variant	rs918001
Chromosome Location	chr2:40607504-40607505
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10187203	0.92[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs10201722	0.82[ASN][1000 genomes]
rs10208527	0.83[CHB][hapmap]
rs12465380	0.83[CHB][hapmap]
rs12474472	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12611608	0.83[CHB][hapmap]
rs2192774	0.93[JPT][hapmap]
rs2216009	0.85[CHB][hapmap];0.91[CHD][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs4395287	0.92[ASN][1000 genomes]
rs4952410	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952614	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56370629	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57686441	0.81[EUR][1000 genomes]
rs6712494	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6712622	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6732915	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6742210	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs7561383	0.83[CHB][hapmap]
rs7581611	0.92[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs9309054	0.92[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs994249	1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.88[MEX][hapmap];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS 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	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873915	chr2:40573350-40615520	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv1804767	chr2:40601179-40615520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv1805808	chr2:40601179-40615520	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv1805510	chr2:40604270-40615520	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1813430	chr2:40604270-40615520	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv873916	chr2:40607504-40649084	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs918001	EML4	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40595000-40611000	Weak transcription	Right Ventricle	heart
2	chr2:40599200-40608200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:40599200-40609000	Weak transcription	Left Ventricle	heart
4	chr2:40600800-40609000	Weak transcription	NHDF-Ad	bronchial
5	chr2:40601000-40621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:40606200-40608800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:40606600-40607800	Enhancers	Fetal Heart	heart
8	chr2:40606600-40608200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:40606600-40609400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
10	chr2:40606600-40609800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr2:40606800-40608200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:40607000-40607800	Strong transcription	Dnd41	blood
13	chr2:40607200-40607600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:40607200-40608400	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:40607200-40608800	Enhancers	Colon Smooth Muscle	Colon
16	chr2:40607200-40609200	ZNF genes & repeats	HSMM	muscle

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