Variant report

Variant	rs11112252
Chromosome Location	chr12:105342983-105342984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11112248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12296570	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12313902	0.83[AMR][1000 genomes]
rs12315904	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12322073	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61745056	0.83[AMR][1000 genomes]
rs7961764	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7980785	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105333200-105346200	Weak transcription	HepG2	liver
2	chr12:105338200-105344200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:105338200-105349000	Weak transcription	Pancreas	Pancrea
4	chr12:105338200-105351000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:105338400-105346600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:105342400-105343000	Enhancers	Stomach Mucosa	stomach
7	chr12:105342600-105350600	Weak transcription	Adipose Nuclei	Adipose
8	chr12:105342800-105344200	Weak transcription	Liver	Liver
9	chr12:105342800-105345200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:105342800-105345200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:105342800-105346000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:105342800-105346000	Weak transcription	Small Intestine	intestine

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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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