Variant report

Variant	rs2540250
Chromosome Location	chr2:39905306-39905307
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39902995..39907146-chr2:39916459..39920307,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10170462	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10177801	0.82[EUR][1000 genomes]
rs10186346	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10208929	0.82[EUR][1000 genomes]
rs11124689	0.82[EUR][1000 genomes]
rs12613210	0.84[EUR][1000 genomes]
rs12712652	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12989245	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13384364	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13405084	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13409487	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1548870	0.82[EUR][1000 genomes]
rs1548871	0.82[EUR][1000 genomes]
rs17024145	0.83[CEU][hapmap];0.88[GIH][hapmap]
rs1861244	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2041736	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2058618	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs2160199	0.84[CEU][hapmap]
rs2215956	0.82[EUR][1000 genomes]
rs2540200	0.92[EUR][1000 genomes]
rs2540247	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2540248	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2540249	0.96[EUR][1000 genomes]
rs2540251	0.96[EUR][1000 genomes]
rs2540252	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2540255	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2716682	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2716683	0.90[EUR][1000 genomes]
rs2716684	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2716686	0.96[EUR][1000 genomes]
rs2716687	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2716688	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2716690	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2716691	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2716692	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2716693	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2716694	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2716719	0.82[EUR][1000 genomes]
rs2716720	0.82[EUR][1000 genomes]
rs2716732	0.93[EUR][1000 genomes]
rs2716737	0.92[EUR][1000 genomes]
rs2716738	0.92[EUR][1000 genomes]
rs35791480	0.84[EUR][1000 genomes]
rs4670952	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4670954	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6707177	0.85[EUR][1000 genomes]
rs6711206	0.82[EUR][1000 genomes]
rs6736442	0.82[EUR][1000 genomes]
rs6748628	0.82[EUR][1000 genomes]
rs917964	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs949812	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs949813	1.00[CEU][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873889	chr2:39830183-39950482	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39894400-39907000	Weak transcription	Left Ventricle	heart
2	chr2:39895800-39913200	Weak transcription	Fetal Brain Male	brain
3	chr2:39899600-39905400	Weak transcription	Fetal Heart	heart
4	chr2:39901600-39910000	Weak transcription	Right Ventricle	heart
5	chr2:39904200-39906400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:39905000-39905800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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