Variant report

Variant	rs1920431
Chromosome Location	chr12:67852467-67852468
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67852217..67854302-chr12:68040942..68043272,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000127334	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10506549	0.82[GIH][hapmap]
rs1317854	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882281	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1921001	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2870933	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2870934	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35351458	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581757	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960669	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67849800-67853800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:67850000-67852600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:67850000-67853200	Enhancers	Rectal Smooth Muscle	rectum
4	chr12:67850200-67853600	Enhancers	Psoas Muscle	Psoas
5	chr12:67850200-67853800	Enhancers	Ovary	ovary
6	chr12:67850200-67857800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr12:67850400-67852600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:67850400-67853400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:67850800-67853200	Enhancers	Colon Smooth Muscle	Colon
10	chr12:67850800-67853400	Weak transcription	HSMMtube	muscle
11	chr12:67851400-67852600	Enhancers	Placenta	Placenta
12	chr12:67851600-67852600	Enhancers	HMEC	breast
13	chr12:67851600-67852600	Enhancers	NHEK	skin
14	chr12:67851800-67854200	Weak transcription	HSMM	muscle
15	chr12:67851800-67856200	Weak transcription	Right Ventricle	heart
16	chr12:67852000-67853000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:67852000-67853000	Weak transcription	Spleen	Spleen
18	chr12:67852000-67854000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:67852000-67854200	Weak transcription	Fetal Heart	heart
20	chr12:67852000-67862800	Weak transcription	Right Atrium	heart
21	chr12:67852200-67852600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:67852200-67853000	Weak transcription	Left Ventricle	heart
23	chr12:67852200-67853600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:67852200-67857000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr12:67852200-67857200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:67852400-67852600	Enhancers	Adipose Nuclei	Adipose
27	chr12:67852400-67853000	Weak transcription	Aorta	Aorta
28	chr12:67852400-67853200	Enhancers	Stomach Smooth Muscle	stomach

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