Variant report

Variant	rs3114950
Chromosome Location	chr2:187711022-187711023
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187710796..187713045-chr2:187753226..187755299,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10179285	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10179296	0.84[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12612668	0.82[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12616053	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs13417791	0.81[ASN][1000 genomes]
rs1451557	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs1451558	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1901342	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2122870	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs3100021	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs3100022	0.84[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3100041	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3114921	0.83[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3114949	0.87[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3114951	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs6705578	0.87[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6734301	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6750068	0.81[ASN][1000 genomes]
rs7559533	0.82[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap]
rs7591182	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3114950	ITGAV	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187706800-187713400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:187707400-187712800	Weak transcription	NHLF	lung
3	chr2:187708400-187712800	Weak transcription	NHDF-Ad	bronchial
4	chr2:187708400-187713200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:187708400-187713400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:187708600-187712600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:187708600-187712600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:187708600-187713200	Weak transcription	Osteobl	bone
9	chr2:187710600-187711400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:187710600-187711400	Enhancers	Monocytes-CD14+_RO01746	blood

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