Variant report

Variant	rs9645790
Chromosome Location	chr12:105777726-105777727
allele	G/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: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10507190	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10861407	0.87[EUR][1000 genomes]
rs10861409	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10861411	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10861412	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10861413	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10861417	1.00[ASN][1000 genomes]
rs10861418	1.00[ASN][1000 genomes]
rs11112492	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112493	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112494	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112495	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112496	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112497	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112498	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112499	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112502	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112504	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112505	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112506	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112507	0.95[AFR][1000 genomes]
rs11611618	1.00[ASN][1000 genomes]
rs12371845	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12819965	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12820423	0.92[EUR][1000 genomes]
rs12829741	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12831150	0.81[EUR][1000 genomes]
rs17041538	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6539207	0.95[AFR][1000 genomes]
rs6797	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7131942	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7302174	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73181878	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7968892	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7969370	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7969665	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9645791	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
rs9645790	C12orf75	cis	Artery Tibial	GTEx
rs9645790	C12orf75	cis	Artery Aorta	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	chr12:105777400-105777800	Enhancers	Fetal Intestine Small	intestine
16	chr12:105777400-105778200	Weak transcription	Fetal Intestine Large	intestine
17	chr12:105777400-105778400	Weak transcription	HMEC	breast
18	chr12:105777400-105778600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:105777400-105778800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:105777400-105778800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:105777400-105778800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:105777400-105778800	Weak transcription	Osteobl	bone
23	chr12:105777400-105781400	Weak transcription	Fetal Stomach	stomach
24	chr12:105777400-105793200	Weak transcription	Aorta	Aorta
25	chr12:105777600-105777800	Enhancers	HSMMtube	muscle
26	chr12:105777600-105778600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:105777600-105778600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:105777600-105778600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:105777600-105781200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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