Variant report

Variant	rs61042175
Chromosome Location	chr12:105499416-105499417
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1078420	0.82[ASN][1000 genomes]
rs1196851	0.82[ASN][1000 genomes]
rs1196869	0.87[ASN][1000 genomes]
rs1196872	0.82[ASN][1000 genomes]
rs1196873	0.87[ASN][1000 genomes]
rs12309135	0.82[ASN][1000 genomes]
rs17036781	0.82[ASN][1000 genomes]
rs1882148	1.00[EUR][1000 genomes]
rs2257156	0.87[ASN][1000 genomes]
rs2464175	0.87[ASN][1000 genomes]
rs3763991	1.00[EUR][1000 genomes]
rs57393988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57448746	1.00[EUR][1000 genomes]
rs57456392	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57618699	1.00[EUR][1000 genomes]
rs58301361	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58969183	1.00[EUR][1000 genomes]
rs59143432	1.00[EUR][1000 genomes]
rs59811168	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59840770	1.00[EUR][1000 genomes]
rs59935781	1.00[EUR][1000 genomes]
rs59955900	1.00[EUR][1000 genomes]
rs60167837	1.00[EUR][1000 genomes]
rs60230439	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60294187	1.00[EUR][1000 genomes]
rs60495600	1.00[EUR][1000 genomes]
rs60725801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61336075	1.00[EUR][1000 genomes]
rs61437377	1.00[EUR][1000 genomes]
rs7294681	1.00[EUR][1000 genomes]
rs7297845	1.00[EUR][1000 genomes]
rs7304175	1.00[EUR][1000 genomes]
rs7307834	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7314155	1.00[EUR][1000 genomes]
rs73393833	1.00[EUR][1000 genomes]
rs73393835	1.00[EUR][1000 genomes]
rs73393837	1.00[EUR][1000 genomes]
rs73393841	1.00[EUR][1000 genomes]
rs73393842	1.00[EUR][1000 genomes]
rs73393866	1.00[EUR][1000 genomes]
rs73393869	1.00[EUR][1000 genomes]
rs73393881	1.00[EUR][1000 genomes]
rs73393882	1.00[EUR][1000 genomes]
rs73395723	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73395740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73395744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73395745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73395746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73395758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73395770	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73395771	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73395772	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73395783	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73395785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73397621	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73397624	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73397654	1.00[EUR][1000 genomes]
rs73397655	1.00[EUR][1000 genomes]
rs73397656	1.00[EUR][1000 genomes]
rs73397659	1.00[EUR][1000 genomes]
rs73397660	1.00[EUR][1000 genomes]
rs73397661	1.00[EUR][1000 genomes]
rs73397663	1.00[EUR][1000 genomes]
rs73397672	1.00[EUR][1000 genomes]
rs73397677	1.00[EUR][1000 genomes]
rs73397678	1.00[EUR][1000 genomes]
rs73397680	1.00[EUR][1000 genomes]
rs73397683	1.00[EUR][1000 genomes]
rs73397685	1.00[EUR][1000 genomes]
rs73397687	1.00[EUR][1000 genomes]
rs73397688	1.00[EUR][1000 genomes]
rs73397690	1.00[EUR][1000 genomes]
rs73397700	1.00[EUR][1000 genomes]
rs73397701	1.00[EUR][1000 genomes]
rs73399708	1.00[EUR][1000 genomes]
rs73399717	1.00[EUR][1000 genomes]
rs73399720	1.00[EUR][1000 genomes]
rs73399724	1.00[EUR][1000 genomes]
rs73399728	1.00[EUR][1000 genomes]
rs73399730	1.00[EUR][1000 genomes]
rs73399779	1.00[AMR][1000 genomes]
rs73399787	1.00[AMR][1000 genomes]
rs7959931	1.00[EUR][1000 genomes]
rs935249	0.87[ASN][1000 genomes]
rs9668528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[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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