Variant report

Variant	rs11831375
Chromosome Location	chr12:10387013-10387014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2537780	1.00[AMR][1000 genomes]
rs2927559	1.00[AMR][1000 genomes]
rs36171638	1.00[AMR][1000 genomes]
rs59357284	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60306658	1.00[AMR][1000 genomes]
rs73256668	1.00[AMR][1000 genomes]
rs73256676	1.00[AMR][1000 genomes]
rs73258612	1.00[AMR][1000 genomes]
rs73262336	1.00[AMR][1000 genomes]
rs73262344	1.00[AMR][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	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1054811	chr12:10350587-10440005	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10376400-10388600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:10376400-10395000	Weak transcription	Pancreas	Pancrea
3	chr12:10376400-10397600	Weak transcription	Aorta	Aorta
4	chr12:10377200-10389000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr12:10377200-10394200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:10377200-10394600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:10377200-10399000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:10377800-10404400	Weak transcription	Left Ventricle	heart
9	chr12:10380200-10395800	Weak transcription	Thymus	Thymus
10	chr12:10386000-10387200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr12:10386200-10387400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:10386600-10387400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:10386600-10387400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:10386800-10387200	ZNF genes & repeats	Liver	Liver
15	chr12:10386800-10387200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
16	chr12:10386800-10387400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:10386800-10387400	ZNF genes & repeats	Placenta	Placenta
18	chr12:10387000-10387400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood

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

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