Variant report

Variant	rs2105794
Chromosome Location	chr11:15144450-15144451
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10832363	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1496163	1.00[MEX][hapmap]
rs16931076	1.00[MEX][hapmap]
rs1714355	0.86[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs1792546	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs1792570	1.00[MEX][hapmap]
rs1894130	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4564318	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4756793	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5237	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530497	chr11:14641440-15200572	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1038154	chr11:14991411-15246500	Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv540950	chr11:14991411-15246500	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv897007	chr11:14991411-15260124	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active 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	nsv530217	chr11:14991411-15275034	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2830370	chr11:15142247-15444094	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 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	chr11:15140800-15145600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:15141400-15144600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr11:15141600-15145600	Weak transcription	Right Atrium	heart
4	chr11:15141800-15145000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:15142000-15144600	Weak transcription	HSMM	muscle
6	chr11:15142000-15145000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:15142200-15144800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:15142200-15145200	Weak transcription	NHEK	skin
9	chr11:15143800-15145200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:15144000-15145000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr11:15144000-15145600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:15144200-15148600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:15144400-15144600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:15144400-15146000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:15144400-15146200	Enhancers	HMEC	breast
16	chr11:15144400-15146400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:15144400-15146600	Enhancers	NHDF-Ad	bronchial
18	chr11:15144400-15146600	Enhancers	Osteobl	bone

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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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