Variant report

Variant	rs11050016
Chromosome Location	chr12:29227401-29227402
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29226509..29227600-chr12:29470481..29471272,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257176	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10843302	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10843314	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843315	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11049982	0.89[EUR][1000 genomes]
rs11049984	0.89[EUR][1000 genomes]
rs11049993	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11049994	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11049996	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11050000	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11050002	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11050027	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050100	0.83[EUR][1000 genomes]
rs1122176	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12228134	0.87[EUR][1000 genomes]
rs12313069	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16933990	0.83[EUR][1000 genomes]
rs17706344	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17707217	0.83[EUR][1000 genomes]
rs67048928	0.83[EUR][1000 genomes]
rs73061763	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7307362	0.80[EUR][1000 genomes]
rs73073790	0.83[EUR][1000 genomes]
rs73074110	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73074119	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7952775	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7972564	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2758301	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759888	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29220600-29228200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:29224400-29228000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:29224800-29228200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr12:29226000-29227800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:29226400-29228600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:29226600-29233800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:29226800-29227800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:29226800-29227800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:29226800-29229600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:29227000-29228000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:29227000-29228200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:29227000-29229400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:29227200-29227600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:29227200-29227800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:29227200-29229000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:29227400-29228800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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