Variant report

Variant	rs9645791
Chromosome Location	chr12:105778243-105778244
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	chr12:105598458..105599984-chr12:105777215..105778784,2	MCF-7	breast:
2	chr12:105499961..105503110-chr12:105776663..105778620,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136051	Chromatin interaction
ENSG00000257999	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10507190	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10861371	1.00[CHB][hapmap]
rs10861400	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs10861403	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10861407	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861409	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10861411	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861412	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861413	0.93[EUR][1000 genomes]
rs11112434	1.00[CHB][hapmap]
rs11112469	0.88[CEU][hapmap]
rs11112475	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11112482	0.94[CEU][hapmap]
rs11112483	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11112484	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11112485	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11112486	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11112487	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11112488	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11112492	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11112493	0.91[EUR][1000 genomes]
rs11112494	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11112495	0.93[EUR][1000 genomes]
rs11112496	0.93[EUR][1000 genomes]
rs11112497	0.93[EUR][1000 genomes]
rs11112498	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11112499	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11112502	0.93[EUR][1000 genomes]
rs11112504	0.97[EUR][1000 genomes]
rs11112505	0.97[EUR][1000 genomes]
rs11112506	0.97[EUR][1000 genomes]
rs1196748	1.00[CHB][hapmap]
rs1196749	1.00[CHB][hapmap]
rs1196753	1.00[CHB][hapmap]
rs1196754	1.00[CHB][hapmap]
rs1196755	1.00[ASN][1000 genomes]
rs1196756	1.00[CHB][hapmap]
rs1196760	1.00[CHB][hapmap]
rs1196763	1.00[ASN][1000 genomes]
rs1196777	1.00[CHB][hapmap]
rs1196793	1.00[CHB][hapmap]
rs1196852	1.00[CHB][hapmap]
rs12371845	0.93[EUR][1000 genomes]
rs12819965	0.97[EUR][1000 genomes]
rs12820423	0.97[EUR][1000 genomes]
rs12822081	1.00[CHB][hapmap]
rs12829692	0.87[CEU][hapmap]
rs12829741	0.93[EUR][1000 genomes]
rs12831150	0.85[EUR][1000 genomes]
rs17041538	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2440715	1.00[CHB][hapmap]
rs2888846	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34346262	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35519603	1.00[ASN][1000 genomes]
rs4545651	1.00[CHB][hapmap]
rs6797	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7131942	0.91[EUR][1000 genomes]
rs7299225	1.00[CHB][hapmap]
rs7302174	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73181878	0.91[EUR][1000 genomes]
rs73181886	1.00[ASN][1000 genomes]
rs7959385	1.00[CHB][hapmap]
rs7968892	0.93[EUR][1000 genomes]
rs7969370	0.93[EUR][1000 genomes]
rs7969665	0.93[EUR][1000 genomes]
rs935244	1.00[CHB][hapmap]
rs9645790	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899500	chr12:105742674-105803028	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9645791	C12orf75	cis	Artery Aorta	GTEx
rs9645791	C12orf75	cis	Artery Tibial	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105764800-105803600	Weak transcription	Thymus	Thymus
2	chr12:105769000-105778400	Weak transcription	Dnd41	blood
3	chr12:105777000-105787400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:105777200-105778400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:105777200-105778600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:105777200-105778600	Weak transcription	HSMM	muscle
7	chr12:105777200-105778600	Weak transcription	NHEK	skin
8	chr12:105777200-105781400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:105777200-105783000	Weak transcription	NHLF	lung
10	chr12:105777200-105787200	Weak transcription	NH-A	brain
11	chr12:105777200-105787200	Weak transcription	NHDF-Ad	bronchial
12	chr12:105777200-105787400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:105777200-105787400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:105777200-105793400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:105777400-105778400	Weak transcription	HMEC	breast
16	chr12:105777400-105778600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:105777400-105778800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:105777400-105778800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:105777400-105778800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:105777400-105778800	Weak transcription	Osteobl	bone
21	chr12:105777400-105781400	Weak transcription	Fetal Stomach	stomach
22	chr12:105777400-105793200	Weak transcription	Aorta	Aorta
23	chr12:105777600-105778600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:105777600-105778600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:105777600-105778600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:105777600-105781200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:105778200-105779400	Enhancers	Fetal Intestine Small	intestine
28	chr12:105778200-105779600	Enhancers	Fetal Intestine Large	intestine
29	chr12:105778200-105779600	Enhancers	HSMMtube	muscle

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