Variant report

Variant	rs12214274
Chromosome Location	chr6:132306070-132306071
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:132272369..132274652-chr6:132305636..132307204,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118523	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1011555	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10872387	0.87[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11154654	0.94[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11154656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12055428	0.94[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12192101	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12192108	0.94[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12193041	0.89[CHB][hapmap]
rs12202729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12212771	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12212906	0.80[AMR][1000 genomes]
rs12663962	0.93[CEU][hapmap];0.86[CHB][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1930994	0.94[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1931001	0.85[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2022390	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2022391	0.94[CEU][hapmap];0.91[CHB][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2027034	0.94[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2223258	0.80[CHB][hapmap]
rs233928	0.85[CHB][hapmap]
rs233929	0.85[CHB][hapmap]
rs233930	0.86[CHB][hapmap]
rs233931	0.82[CHB][hapmap]
rs233932	0.86[CHB][hapmap]
rs4452668	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7356961	0.85[CHB][hapmap]
rs7357002	0.86[CHB][hapmap]
rs7747551	0.94[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7768193	0.80[ASN][1000 genomes]
rs9373005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9373006	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9375854	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9385593	0.85[AFR][1000 genomes]
rs9388952	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9388957	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9399006	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9399007	0.86[CHB][hapmap]
rs9402376	0.94[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9402377	0.94[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9402380	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9402381	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9402382	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9402383	0.85[CHB][hapmap]
rs9483372	0.85[CHB][hapmap]
rs975445	0.94[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv470861	chr6:132291785-132351866	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv886672	chr6:132299748-132349215	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv886673	chr6:132299748-132363507	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv427768	chr6:132300468-132398477	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132298200-132319000	Weak transcription	Aorta	Aorta
2	chr6:132300600-132306600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr6:132300800-132307200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:132301000-132306200	Enhancers	HSMM	muscle
5	chr6:132303000-132306200	Enhancers	HepG2	liver
6	chr6:132303000-132320600	Weak transcription	Left Ventricle	heart
7	chr6:132304400-132306200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:132304800-132306600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:132304800-132309000	Weak transcription	Ovary	ovary
10	chr6:132304800-132320600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:132305600-132306200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr6:132306000-132306400	Enhancers	Rectal Smooth Muscle	rectum

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