Variant report

Variant	rs7702731
Chromosome Location	chr5:44914285-44914286
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10041518	0.80[ASN][1000 genomes]
rs10044096	0.83[ASN][1000 genomes]
rs11957920	0.83[ASN][1000 genomes]
rs4642377	0.82[ASN][1000 genomes]
rs4866784	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6870136	0.80[ASN][1000 genomes]
rs6871820	0.80[ASN][1000 genomes]
rs6881563	0.80[ASN][1000 genomes]
rs7705343	0.81[ASN][1000 genomes]
rs7708506	0.80[ASN][1000 genomes]
rs7728431	0.83[ASN][1000 genomes]
rs9790879	0.82[ASN][1000 genomes]
rs9790896	0.82[ASN][1000 genomes]
rs9791056	0.80[ASN][1000 genomes]
rs9791164	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027897	chr5:44695278-45061623	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv881564	chr5:44783255-44914579	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv880397	chr5:44800665-44939293	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv880483	chr5:44827292-45038026	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv462129	chr5:44876288-44916789	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv597935	chr5:44876288-44916789	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	nsv462130	chr5:44879577-44920711	Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv597936	chr5:44879577-44920711	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7702731	LOC647121	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44912200-44915800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:44913800-44914400	Enhancers	HUES48 Cell Line	embryonic stem cell

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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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