Variant report

Variant	rs7138574
Chromosome Location	chr12:105495421-105495422
allele	C/G
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	chr12:105493621..105499511-chr12:105499874..105503218,6	MCF-7	breast:

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

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10082824	1.00[ASN][1000 genomes]
rs10083185	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112291	1.00[ASN][1000 genomes]
rs11112292	1.00[ASN][1000 genomes]
rs11112293	1.00[ASN][1000 genomes]
rs11112294	1.00[ASN][1000 genomes]
rs11112295	1.00[ASN][1000 genomes]
rs11112315	1.00[ASN][1000 genomes]
rs11112316	1.00[ASN][1000 genomes]
rs11112318	1.00[ASN][1000 genomes]
rs11112333	1.00[ASN][1000 genomes]
rs11112381	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112389	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112410	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11495192	1.00[ASN][1000 genomes]
rs11559871	0.83[EUR][1000 genomes]
rs11829598	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299366	0.89[EUR][1000 genomes]
rs12299391	0.89[EUR][1000 genomes]
rs12301914	0.89[EUR][1000 genomes]
rs12304384	0.89[EUR][1000 genomes]
rs12305766	0.83[EUR][1000 genomes]
rs12307372	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311156	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12312965	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12317637	0.84[EUR][1000 genomes]
rs12317804	0.89[EUR][1000 genomes]
rs12321199	0.89[EUR][1000 genomes]
rs12321518	0.87[EUR][1000 genomes]
rs12369202	1.00[ASN][1000 genomes]
rs12369490	1.00[ASN][1000 genomes]
rs12372369	1.00[ASN][1000 genomes]
rs12372454	1.00[ASN][1000 genomes]
rs12424191	0.87[EUR][1000 genomes]
rs12424709	0.87[EUR][1000 genomes]
rs12425803	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036595	1.00[ASN][1000 genomes]
rs17036608	1.00[ASN][1000 genomes]
rs1801070	1.00[ASN][1000 genomes]
rs35149056	1.00[ASN][1000 genomes]
rs3910856	1.00[ASN][1000 genomes]
rs55679730	1.00[ASN][1000 genomes]
rs55916348	1.00[ASN][1000 genomes]
rs56284118	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56862143	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59320697	0.87[EUR][1000 genomes]
rs59593474	0.89[EUR][1000 genomes]
rs60835294	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60999193	0.89[EUR][1000 genomes]
rs6539184	1.00[ASN][1000 genomes]
rs7132816	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7133728	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7136453	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300130	0.94[EUR][1000 genomes]
rs7300730	1.00[ASN][1000 genomes]
rs7302842	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7305406	0.87[EUR][1000 genomes]
rs7310860	1.00[ASN][1000 genomes]
rs7313309	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315964	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179946	1.00[ASN][1000 genomes]
rs73179970	1.00[ASN][1000 genomes]
rs73179974	1.00[ASN][1000 genomes]
rs73179990	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179996	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179998	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180001	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73181822	0.87[EUR][1000 genomes]
rs73181857	0.83[EUR][1000 genomes]
rs73191788	1.00[ASN][1000 genomes]
rs73193619	1.00[ASN][1000 genomes]
rs73193626	1.00[ASN][1000 genomes]
rs73193630	1.00[ASN][1000 genomes]
rs73193631	1.00[ASN][1000 genomes]
rs7956643	1.00[ASN][1000 genomes]
rs7964184	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966109	1.00[ASN][1000 genomes]
rs7971630	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7975787	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978034	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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: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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