Variant report

Variant	rs1196850
Chromosome Location	chr12:105494235-105494236
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105493554..105497318-chr12:105498704..105503069,6	K562	blood:
2	chr12:105484191..105488176-chr12:105493160..105495554,3	MCF-7	breast:
3	chr12:105476974..105478534-chr12:105493271..105495502,2	K562	blood:
4	chr12:105492565..105494732-chr12:105503331..105505612,2	K562	blood:
5	chr12:105481985..105484385-chr12:105492021..105495022,3	K562	blood:
6	chr12:105493621..105499511-chr12:105499874..105503218,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257999	Chromatin interaction
ENSG00000136010	Chromatin interaction
ENSG00000136051	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11610656	0.82[ASN][1000 genomes]
rs1196750	0.81[ASN][1000 genomes]
rs1196803	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1196804	0.94[ASN][1000 genomes]
rs1196809	0.96[ASN][1000 genomes]
rs1196810	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1196812	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1196814	0.96[ASN][1000 genomes]
rs1196816	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1196821	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1196822	0.94[ASN][1000 genomes]
rs1196826	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1196827	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1196828	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1196829	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1196835	0.93[ASN][1000 genomes]
rs1196836	0.96[ASN][1000 genomes]
rs1196837	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1196838	0.96[ASN][1000 genomes]
rs1196840	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1196843	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1196846	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196854	0.91[ASN][1000 genomes]
rs1196855	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1196856	0.91[ASN][1000 genomes]
rs1196858	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1196860	0.91[ASN][1000 genomes]
rs1196865	0.92[ASN][1000 genomes]
rs1196866	0.92[ASN][1000 genomes]
rs1196867	0.92[ASN][1000 genomes]
rs1196868	0.93[ASN][1000 genomes]
rs1196870	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1196876	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1196877	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1196878	0.94[ASN][1000 genomes]
rs1201657	0.89[ASN][1000 genomes]
rs1201658	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1732371	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1732378	0.89[ASN][1000 genomes]
rs1732379	0.89[ASN][1000 genomes]
rs1732384	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2264066	0.91[ASN][1000 genomes]
rs2440713	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2440717	0.94[ASN][1000 genomes]
rs2440719	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9143	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105492800-105494600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:105492800-105494600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:105493000-105494600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:105493200-105494400	Weak transcription	Stomach Mucosa	stomach
5	chr12:105494000-105494800	Enhancers	NHLF	lung
6	chr12:105494000-105495000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:105494000-105495000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:105494000-105495000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:105494200-105494400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:105494200-105494400	Active TSS	Muscle Satellite Cultured Cells	--
11	chr12:105494200-105494400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:105494200-105494400	Active TSS	Osteobl	bone
13	chr12:105494200-105494600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:105494200-105494600	Active TSS	Hela-S3	cervix
15	chr12:105494200-105494600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr12:105494200-105494800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:105494200-105494800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:105494200-105494800	Flanking Active TSS	A549	lung
19	chr12:105494200-105494800	Enhancers	NHEK	skin
20	chr12:105494200-105495000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:105494200-105495000	Enhancers	NHDF-Ad	bronchial
22	chr12:105494200-105495200	Enhancers	HSMM	muscle

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