Variant report

Variant	rs12271315
Chromosome Location	chr11:18715387-18715388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11024682	1.00[AMR][1000 genomes]
rs11024722	1.00[AMR][1000 genomes]
rs12275256	1.00[AMR][1000 genomes]
rs12276407	1.00[AMR][1000 genomes]
rs12282184	1.00[AMR][1000 genomes]
rs12283962	1.00[AMR][1000 genomes]
rs12289644	1.00[AMR][1000 genomes]
rs12291345	1.00[AMR][1000 genomes]
rs12292992	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv983163	chr11:18702181-18736146	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv897028	chr11:18714623-18770822	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18687000-18719800	Weak transcription	Ovary	ovary
2	chr11:18703400-18719800	Weak transcription	Right Atrium	heart
3	chr11:18713200-18719800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:18713800-18719800	Weak transcription	Placenta	Placenta
5	chr11:18714400-18715400	Enhancers	HSMMtube	muscle
6	chr11:18714800-18719600	Weak transcription	Osteobl	bone
7	chr11:18715000-18715600	Enhancers	Duodenum Mucosa	Duodenum
8	chr11:18715000-18716200	Enhancers	GM12878-XiMat	blood
9	chr11:18715000-18716200	Enhancers	K562	blood
10	chr11:18715000-18718600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:18715000-18719400	Weak transcription	Fetal Muscle Leg	muscle
12	chr11:18715000-18719600	Weak transcription	Liver	Liver
13	chr11:18715000-18719800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:18715200-18715600	Enhancers	NHEK	skin
15	chr11:18715200-18718600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:18715200-18719400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:18715200-18719600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:18715200-18719600	Weak transcription	Adipose Nuclei	Adipose
19	chr11:18715200-18719800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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