Variant report

Variant	rs1196843
Chromosome Location	chr12:105499500-105499501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105476762..105478986-chr12:105499431..105503042,4	K562	blood:
2	chr12:105499144..105502991-chr12:105627617..105631044,5	MCF-7	breast:
3	chr12:105478183..105481313-chr12:105498999..105500811,3	K562	blood:
4	chr12:105493621..105499511-chr12:105499874..105503218,6	MCF-7	breast:
5	chr12:105473909..105476084-chr12:105497876..105499540,2	K562	blood:
6	chr12:104678772..104682731-chr12:105498551..105503490,6	K562	blood:

Variant related genes	Relation type
ENSG00000136051	Chromatin interaction
ENSG00000136010	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000235162	Chromatin interaction
ENSG00000136044	Chromatin interaction
ENSG00000257999	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1196803	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1196804	0.92[ASN][1000 genomes]
rs1196809	0.94[ASN][1000 genomes]
rs1196810	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196812	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196814	0.94[ASN][1000 genomes]
rs1196816	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196821	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196822	0.95[ASN][1000 genomes]
rs1196826	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1196827	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1196828	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1196829	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1196835	0.94[ASN][1000 genomes]
rs1196836	0.96[ASN][1000 genomes]
rs1196837	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1196838	0.96[ASN][1000 genomes]
rs1196840	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1196846	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1196850	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1196854	0.89[ASN][1000 genomes]
rs1196855	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1196856	0.89[ASN][1000 genomes]
rs1196858	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1196860	0.89[ASN][1000 genomes]
rs1196865	0.90[ASN][1000 genomes]
rs1196866	0.90[ASN][1000 genomes]
rs1196867	0.90[ASN][1000 genomes]
rs1196868	0.91[ASN][1000 genomes]
rs1196870	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1196876	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1196877	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1196878	0.92[ASN][1000 genomes]
rs1201657	0.87[ASN][1000 genomes]
rs1201658	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1732371	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1732378	0.87[ASN][1000 genomes]
rs1732379	0.87[ASN][1000 genomes]
rs1732384	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2264066	0.89[ASN][1000 genomes]
rs2440713	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2440717	0.92[ASN][1000 genomes]
rs2440719	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9143	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105494600-105500200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:105494800-105500000	Weak transcription	NHEK	skin
3	chr12:105494800-105500200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:105494800-105500200	Weak transcription	HMEC	breast
5	chr12:105494800-105500600	Weak transcription	NH-A	brain
6	chr12:105495000-105500400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:105495000-105500400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:105495000-105500400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:105495000-105500400	Weak transcription	Osteobl	bone
10	chr12:105495000-105500600	Weak transcription	NHDF-Ad	bronchial
11	chr12:105495000-105500800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:105495200-105500200	Weak transcription	A549	lung
13	chr12:105495200-105500200	Weak transcription	HepG2	liver
14	chr12:105495200-105500400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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