Variant report

Variant	rs11615015
Chromosome Location	chr12:47062286-47062287
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47060948..47064525-chr12:47070342..47072791,3	MCF-7	breast:
2	chr12:47060607..47062700-chr12:47063813..47065440,2	MCF-7	breast:
3	chr12:46759450..46767729-chr12:47050364..47062392,28	MCF-7	breast:
4	chr12:47061845..47064516-chr12:47065041..47068020,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction

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

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

rs_ID	r²[population]
rs10880987	0.91[AFR][1000 genomes]
rs11183527	0.85[JPT][hapmap]
rs11183560	0.89[AFR][1000 genomes]
rs12229299	0.84[ASN][1000 genomes]
rs12818130	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4768735	0.85[JPT][hapmap]
rs7973775	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7975718	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7979810	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9795544	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]

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	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1844378	chr12:47028797-47072016	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47046400-47069800	Weak transcription	Pancreas	Pancrea
2	chr12:47053400-47062400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:47054000-47068400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:47054000-47071400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:47056000-47069000	Weak transcription	Esophagus	oesophagus
6	chr12:47059000-47065600	Weak transcription	Primary B cells from cord blood	blood
7	chr12:47059400-47062400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:47059600-47063600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:47059600-47069200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:47059600-47069800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:47059600-47076800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:47059800-47064800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:47059800-47068800	Weak transcription	NHLF	lung
14	chr12:47059800-47076600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:47060000-47064200	Weak transcription	Psoas Muscle	Psoas
16	chr12:47060000-47068000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:47060000-47068000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:47060200-47063800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:47061000-47062600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:47061400-47067600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:47061600-47067600	Weak transcription	NHEK	skin
22	chr12:47061600-47068000	Weak transcription	NHDF-Ad	bronchial
23	chr12:47061800-47063200	Weak transcription	HMEC	breast
24	chr12:47061800-47065000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr12:47062000-47062800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr12:47062000-47063000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr12:47062000-47063000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:47062000-47064200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
29	chr12:47062000-47067800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:47062200-47068000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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