Variant report

Variant	rs7120031
Chromosome Location	chr11:45816020-45816021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11038652	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11038653	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11038658	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274152	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12283175	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12419733	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12421083	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2457961	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2467287	1.00[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2666890	0.87[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];0.84[ASN][1000 genomes]
rs4755339	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7109178	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7114337	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116816	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120278	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7130242	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7482133	0.91[ASN][1000 genomes]
rs7926593	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[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	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7120031	C11orf49	cis	parietal	SCAN
rs7120031	NTRK3	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45812200-45816400	Enhancers	Liver	Liver
2	chr11:45815000-45820400	Weak transcription	Lung	lung
3	chr11:45815400-45816400	Enhancers	Stomach Mucosa	stomach
4	chr11:45815600-45816200	Enhancers	Pancreas	Pancrea
5	chr11:45815600-45816200	Enhancers	HepG2	liver
6	chr11:45816000-45823200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:45816000-45825400	Weak transcription	Gastric	stomach

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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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