Variant report

Variant	rs11112483
Chromosome Location	chr12:105739215-105739216
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10507190	0.84[EUR][1000 genomes]
rs10861400	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10861403	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861407	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861409	0.85[EUR][1000 genomes]
rs10861411	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861412	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861413	0.83[EUR][1000 genomes]
rs11112469	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11112470	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11112473	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11112475	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112478	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11112480	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11112482	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11112484	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112485	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112486	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112487	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112488	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112492	0.85[EUR][1000 genomes]
rs11112493	0.85[EUR][1000 genomes]
rs11112494	0.83[EUR][1000 genomes]
rs11112495	0.83[EUR][1000 genomes]
rs11112496	0.83[EUR][1000 genomes]
rs11112497	0.83[EUR][1000 genomes]
rs11112498	0.83[EUR][1000 genomes]
rs11112499	0.83[EUR][1000 genomes]
rs11112502	0.83[EUR][1000 genomes]
rs1196755	1.00[ASN][1000 genomes]
rs1196763	1.00[ASN][1000 genomes]
rs12371845	0.83[EUR][1000 genomes]
rs12829692	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12829741	0.83[EUR][1000 genomes]
rs12831150	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1432592	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17036960	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17041538	0.83[EUR][1000 genomes]
rs2888846	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34346262	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35325227	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35335704	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35519603	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6797	0.85[EUR][1000 genomes]
rs7131942	0.85[EUR][1000 genomes]
rs7302174	0.85[EUR][1000 genomes]
rs73181878	0.82[EUR][1000 genomes]
rs73181886	1.00[ASN][1000 genomes]
rs7954485	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7954722	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7968892	0.83[EUR][1000 genomes]
rs7969370	0.83[EUR][1000 genomes]
rs7969665	0.83[EUR][1000 genomes]
rs7972183	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9645791	0.83[AMR][1000 genomes];1.00[ASN][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	nsv510589	chr12:105670071-105743755	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11112483	C12orf75	cis	Artery Aorta	GTEx
rs11112483	C12orf75	cis	Artery Tibial	GTEx

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105725600-105747200	Weak transcription	Gastric	stomach
2	chr12:105729800-105749400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:105730600-105755400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:105734800-105744000	Weak transcription	Thymus	Thymus
5	chr12:105734800-105744000	Weak transcription	HSMMtube	muscle
6	chr12:105734800-105750200	Weak transcription	Primary T cells from cord blood	blood
7	chr12:105734800-105750800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:105734800-105776600	Weak transcription	Esophagus	oesophagus
9	chr12:105735000-105776600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:105735200-105750800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:105735400-105741000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr12:105735400-105742800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:105735400-105756800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:105735600-105740800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:105735600-105742200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:105735600-105743800	Weak transcription	Aorta	Aorta
17	chr12:105735600-105744000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:105735600-105744000	Weak transcription	NHEK	skin
19	chr12:105735600-105745400	Weak transcription	Fetal Thymus	thymus
20	chr12:105735600-105746200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:105735600-105749200	Weak transcription	HMEC	breast
22	chr12:105735600-105750600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:105735600-105753800	Weak transcription	Fetal Stomach	stomach
24	chr12:105735600-105766800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:105735600-105776600	Weak transcription	Fetal Intestine Small	intestine
26	chr12:105735800-105743200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:105736200-105741000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:105736200-105745400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr12:105736200-105749200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:105736600-105740800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:105736600-105742400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:105736600-105742400	Weak transcription	Osteobl	bone
33	chr12:105736600-105743800	Weak transcription	GM12878-XiMat	blood
34	chr12:105737200-105741400	Weak transcription	NHLF	lung
35	chr12:105737400-105743000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:105738000-105742800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:105738000-105746000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:105738000-105752000	Weak transcription	Spleen	Spleen
39	chr12:105738200-105739800	Weak transcription	A549	lung
40	chr12:105738200-105740800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:105738200-105741000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:105738200-105741000	Weak transcription	Dnd41	blood
43	chr12:105738200-105744000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:105738200-105744000	Weak transcription	HSMM	muscle
45	chr12:105738200-105745400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:105738200-105745400	Weak transcription	Psoas Muscle	Psoas
47	chr12:105738200-105745800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:105738200-105746000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr12:105738200-105746400	Weak transcription	NH-A	brain
50	chr12:105738200-105750600	Weak transcription	Primary B cells from cord blood	blood

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