Variant report

Variant	rs12302213
Chromosome Location	chr12:10795101-10795102
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	chr12:10782687..10785375-chr12:10794891..10797220,2	MCF-7	breast:
2	chr12:10793469..10795596-chr12:10796533..10798313,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11053888	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11053890	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11053891	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11836109	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11836264	0.90[AMR][1000 genomes]
rs12297620	0.90[AFR][1000 genomes]
rs12299672	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12304304	0.90[AFR][1000 genomes]
rs12304656	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12311784	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12315090	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12315191	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12319401	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12321785	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322680	0.90[AFR][1000 genomes]
rs2198964	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4763212	1.00[EUR][1000 genomes]
rs55785135	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs56801111	0.81[AMR][1000 genomes]
rs57025730	0.81[AMR][1000 genomes]
rs57035205	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs58067632	0.81[AMR][1000 genomes]
rs58677311	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs59613394	0.90[AMR][1000 genomes]
rs60400937	0.81[AMR][1000 genomes]
rs60461379	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs61473048	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73252005	0.81[AMR][1000 genomes]
rs73254038	0.81[AMR][1000 genomes]
rs73256092	1.00[EUR][1000 genomes]
rs74060455	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74060471	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060473	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7968001	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv607	chr12:10776867-10821535	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10787800-10797800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:10788600-10797400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:10790600-10799200	Weak transcription	Esophagus	oesophagus
4	chr12:10792600-10796600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr12:10793600-10795200	Enhancers	NHDF-Ad	bronchial
6	chr12:10793800-10795200	Enhancers	Placenta	Placenta
7	chr12:10794600-10795800	Flanking Active TSS	HUVEC	blood vessel
8	chr12:10794600-10797400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:10794800-10797400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:10795000-10795200	Enhancers	Sigmoid Colon	Sigmoid Colon

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