Variant report

Variant	rs11180571
Chromosome Location	chr12:75948683-75948684
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:75946731..75948885-chr12:75954512..75956708,2	MCF-7	breast:
2	chr12:75942788..75945762-chr12:75947332..75949083,2	K562	blood:
3	chr12:75948608..75951291-chr12:76423919..76425941,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139289	Chromatin interaction
ENSG00000257453	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10082902	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11180572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11180573	0.91[ASW][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11180578	0.98[AFR][1000 genomes]
rs12299712	0.82[AFR][1000 genomes]
rs12300622	1.00[MEX][hapmap]
rs12302030	0.82[AFR][1000 genomes]
rs12312606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315633	0.97[AFR][1000 genomes]
rs12318161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60131646	0.95[AFR][1000 genomes]
rs61156377	0.82[AFR][1000 genomes]
rs73361929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73361938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73361945	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73361948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73378325	1.00[AFR][1000 genomes]
rs73378350	0.95[AFR][1000 genomes]
rs73378352	0.88[AFR][1000 genomes]
rs7962381	1.00[AFR][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	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv470305	chr12:75896688-75987360	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75944800-75954000	Weak transcription	Pancreas	Pancrea
2	chr12:75945400-75948800	Enhancers	Fetal Heart	heart
3	chr12:75946600-75957600	Weak transcription	Fetal Brain Male	brain
4	chr12:75947200-75948800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:75947200-75948800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:75947200-75948800	Enhancers	Osteobl	bone
7	chr12:75947200-75949000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:75947200-75949000	Enhancers	NHDF-Ad	bronchial
9	chr12:75947400-75948800	Enhancers	Rectal Smooth Muscle	rectum
10	chr12:75947600-75949400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:75947600-75954000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:75947800-75948800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:75947800-75952200	Weak transcription	Fetal Kidney	kidney
14	chr12:75948000-75950000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:75948000-75952000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:75948000-75958200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:75948200-75952000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:75948400-75949800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:75948400-75949800	Weak transcription	Fetal Lung	lung
20	chr12:75948400-75949800	Weak transcription	A549	lung
21	chr12:75948400-75950000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:75948400-75950200	Weak transcription	Fetal Stomach	stomach
23	chr12:75948400-75952000	Weak transcription	Right Atrium	heart
24	chr12:75948400-75952200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:75948400-75953800	Weak transcription	HMEC	breast
26	chr12:75948400-75954600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:75948600-75948800	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr12:75948600-75949800	Weak transcription	HepG2	liver
29	chr12:75948600-75950000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:75948600-75952200	Weak transcription	HSMMtube	muscle
31	chr12:75948600-75954000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:75948600-75954000	Weak transcription	Fetal Muscle Leg	muscle

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