Variant report

Variant	rs1437883
Chromosome Location	chr2:190459468-190459469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10206897	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931425	0.95[EUR][1000 genomes]
rs1437884	1.00[CEU][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17198990	0.95[EUR][1000 genomes]
rs17199004	1.00[CEU][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs17271183	1.00[CEU][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs34001547	0.95[EUR][1000 genomes]
rs3811621	0.91[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.88[EUR][1000 genomes]
rs6706281	1.00[CEU][hapmap];0.97[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6715669	0.95[EUR][1000 genomes]
rs6715900	0.95[EUR][1000 genomes]
rs6718933	0.94[EUR][1000 genomes]
rs6743001	0.95[EUR][1000 genomes]
rs71434664	0.94[EUR][1000 genomes]
rs7603186	1.00[CEU][hapmap];0.95[EUR][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1437883	COL5A2	cis	parietal	SCAN
rs1437883	SLC40A1	cis	Thyroid	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190455000-190461400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:190456000-190461000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:190456200-190459800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr2:190458400-190462600	Weak transcription	Aorta	Aorta
5	chr2:190458600-190460200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:190458800-190460200	Weak transcription	Primary T cells from cord blood	blood
7	chr2:190458800-190460400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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