Variant report

Variant	rs1342764
Chromosome Location	chr1:215852509-215852510
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12128983	1.00[CEU][hapmap]
rs2797237	0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs2797240	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2820699	1.00[CHD][hapmap]
rs2820701	1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap]
rs2820702	1.00[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	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv873171	chr1:215825167-215925167	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1342764	ICA1	trans	lymphoblastoid	RTeQTL
rs1342764	TAP1	trans	lymphoblastoid	RTeQTL
rs1342764	LOC646214	trans	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215851000-215855400	Weak transcription	Liver	Liver
2	chr1:215852000-215853200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:215852200-215852800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:215852400-215852800	Enhancers	Lung	lung

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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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