Variant report

Variant	rs4952415
Chromosome Location	chr2:40694486-40694487
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10490255	0.89[AMR][1000 genomes]
rs12052800	0.90[TSI][hapmap]
rs12988659	1.00[TSI][hapmap]
rs12991033	0.89[AMR][1000 genomes]
rs13010657	0.87[AMR][1000 genomes]
rs13012895	0.87[AMR][1000 genomes]
rs13014062	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13017237	1.00[TSI][hapmap]
rs13017279	0.83[AMR][1000 genomes]
rs13017846	0.83[AMR][1000 genomes]
rs13019501	0.87[AMR][1000 genomes]
rs13020531	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13026982	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13029763	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13031785	0.90[TSI][hapmap]
rs13031843	0.90[TSI][hapmap]
rs13031849	0.90[TSI][hapmap]
rs13035085	0.90[TSI][hapmap]
rs17026012	0.90[TSI][hapmap]
rs17026051	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17026064	0.84[EUR][1000 genomes]
rs17026071	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17026106	0.89[AMR][1000 genomes]
rs17026114	0.82[CEU][hapmap];0.83[AMR][1000 genomes]
rs17026131	0.81[AMR][1000 genomes]
rs17026148	0.85[AMR][1000 genomes]
rs17026152	0.83[AMR][1000 genomes]
rs17026156	0.83[AMR][1000 genomes]
rs2098477	0.83[AMR][1000 genomes]
rs2098478	0.83[AMR][1000 genomes]
rs2111588	0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2193565	0.83[AMR][1000 genomes]
rs34076394	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34144937	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34186538	0.84[EUR][1000 genomes]
rs34205507	0.84[EUR][1000 genomes]
rs34214503	0.84[EUR][1000 genomes]
rs34272753	0.84[EUR][1000 genomes]
rs34766086	0.83[AMR][1000 genomes]
rs34923862	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35014850	0.83[AMR][1000 genomes]
rs35139526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35306270	0.84[EUR][1000 genomes]
rs35455710	0.87[AMR][1000 genomes]
rs35520511	0.84[EUR][1000 genomes]
rs35537386	0.87[AMR][1000 genomes]
rs35963461	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36011854	0.89[AMR][1000 genomes]
rs36079027	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3796079	0.81[AMR][1000 genomes]
rs3796080	0.81[AMR][1000 genomes]
rs4140728	0.84[EUR][1000 genomes]
rs4952632	0.85[AMR][1000 genomes]
rs4993292	0.90[TSI][hapmap]
rs60079242	0.81[AMR][1000 genomes]
rs61181649	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67014132	0.87[AMR][1000 genomes]
rs71426871	0.83[AMR][1000 genomes]
rs71439301	0.97[AFR][1000 genomes]
rs71441106	0.85[AMR][1000 genomes]
rs71441107	0.85[AMR][1000 genomes]
rs9789739	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv2700	chr2:40667461-40712805	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40685200-40697000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr2:40688600-40698200	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:40690600-40698600	Weak transcription	Right Ventricle	heart
4	chr2:40692200-40709600	Weak transcription	Left Ventricle	heart
5	chr2:40694000-40696600	Genic enhancers	Fetal Heart	heart
6	chr2:40694200-40694600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:40694200-40694600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:40694200-40694600	Enhancers	Brain Germinal Matrix	brain

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