Variant report

Variant	rs12831150
Chromosome Location	chr12:105752267-105752268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10507190	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10861400	0.85[EUR][1000 genomes]
rs10861403	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10861407	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10861409	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10861411	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10861412	0.92[EUR][1000 genomes]
rs10861413	0.91[EUR][1000 genomes]
rs11112469	0.84[EUR][1000 genomes]
rs11112470	0.84[EUR][1000 genomes]
rs11112473	0.83[EUR][1000 genomes]
rs11112475	0.85[EUR][1000 genomes]
rs11112478	0.85[EUR][1000 genomes]
rs11112480	0.85[EUR][1000 genomes]
rs11112482	0.88[EUR][1000 genomes]
rs11112483	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11112484	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11112485	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11112486	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11112487	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11112488	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11112492	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11112493	0.92[EUR][1000 genomes]
rs11112494	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11112495	0.91[EUR][1000 genomes]
rs11112496	0.91[EUR][1000 genomes]
rs11112497	0.91[EUR][1000 genomes]
rs11112498	0.91[EUR][1000 genomes]
rs11112499	0.91[EUR][1000 genomes]
rs11112502	0.91[EUR][1000 genomes]
rs11112504	0.88[EUR][1000 genomes]
rs11112505	0.88[EUR][1000 genomes]
rs11112506	0.88[EUR][1000 genomes]
rs12371845	0.91[EUR][1000 genomes]
rs12819965	0.88[EUR][1000 genomes]
rs12820423	0.88[EUR][1000 genomes]
rs12829692	0.85[EUR][1000 genomes]
rs12829741	0.91[EUR][1000 genomes]
rs1432592	0.84[EUR][1000 genomes]
rs17036960	0.85[EUR][1000 genomes]
rs17041538	0.91[EUR][1000 genomes]
rs2888846	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34346262	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35335704	0.84[EUR][1000 genomes]
rs35519603	0.85[EUR][1000 genomes]
rs6797	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7131942	0.92[EUR][1000 genomes]
rs7302174	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73181878	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7954485	0.84[EUR][1000 genomes]
rs7954722	0.83[EUR][1000 genomes]
rs7968892	0.91[EUR][1000 genomes]
rs7969370	0.91[EUR][1000 genomes]
rs7969665	0.91[EUR][1000 genomes]
rs7972183	0.84[EUR][1000 genomes]
rs9645790	0.81[EUR][1000 genomes]
rs9645791	0.85[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
rs12831150	C12orf75	cis	Artery Aorta	GTEx
rs12831150	C12orf75	cis	Artery Tibial	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105730600-105755400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:105734800-105776600	Weak transcription	Esophagus	oesophagus
3	chr12:105735000-105776600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:105735400-105756800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:105735600-105753800	Weak transcription	Fetal Stomach	stomach
6	chr12:105735600-105766800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:105735600-105776600	Weak transcription	Fetal Intestine Small	intestine
8	chr12:105746000-105776800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:105747000-105753600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:105747000-105753800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:105747000-105762000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:105747000-105772600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:105747000-105773200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:105747200-105761400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:105747200-105766000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:105747400-105761800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:105747400-105762000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:105748000-105776600	Weak transcription	Gastric	stomach
19	chr12:105748800-105753800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr12:105748800-105776800	Weak transcription	Pancreas	Pancrea
21	chr12:105749600-105762600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:105749600-105763800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:105749800-105754400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:105749800-105758600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:105749800-105765600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:105750000-105762600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:105750400-105753200	Flanking Active TSS	GM12878-XiMat	blood
28	chr12:105750600-105752400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:105750600-105753200	Enhancers	Primary B cells from cord blood	blood
30	chr12:105750600-105753800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:105750600-105753800	Enhancers	Primary B cells from peripheral blood	blood
32	chr12:105751000-105758000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr12:105751000-105769000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:105751200-105752600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:105751200-105752800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr12:105751200-105753800	Weak transcription	Primary T cells from cord blood	blood
37	chr12:105751200-105755400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr12:105751200-105759600	Weak transcription	HUVEC	blood vessel
39	chr12:105751200-105766200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr12:105751200-105776800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:105751400-105752400	Enhancers	Aorta	Aorta
42	chr12:105751400-105752400	Weak transcription	NHDF-Ad	bronchial
43	chr12:105751400-105752600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:105751400-105752800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:105751400-105753800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:105751400-105755200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr12:105751400-105756800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:105751400-105762600	Weak transcription	HSMMtube	muscle
49	chr12:105751400-105775200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:105751600-105752600	Weak transcription	Dnd41	blood

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