Variant report

Variant	rs11112493
Chromosome Location	chr12:105763485-105763486
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105734973..105737533-chr12:105761292..105763629,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10507190	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861400	0.82[EUR][1000 genomes]
rs10861403	0.87[EUR][1000 genomes]
rs10861407	1.00[EUR][1000 genomes]
rs10861409	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10861411	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10861412	1.00[EUR][1000 genomes]
rs10861413	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861417	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10861418	0.86[ASN][1000 genomes]
rs11112469	0.81[EUR][1000 genomes]
rs11112470	0.81[EUR][1000 genomes]
rs11112473	0.80[EUR][1000 genomes]
rs11112475	0.82[EUR][1000 genomes]
rs11112478	0.82[EUR][1000 genomes]
rs11112480	0.82[EUR][1000 genomes]
rs11112482	0.85[EUR][1000 genomes]
rs11112483	0.85[EUR][1000 genomes]
rs11112484	0.87[EUR][1000 genomes]
rs11112485	0.85[EUR][1000 genomes]
rs11112486	0.87[EUR][1000 genomes]
rs11112487	0.87[EUR][1000 genomes]
rs11112488	0.87[EUR][1000 genomes]
rs11112492	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112494	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112495	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112496	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112497	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112498	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112499	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112502	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112504	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112505	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112506	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11611618	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12371845	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819965	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12820423	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12829692	0.82[EUR][1000 genomes]
rs12829741	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12831150	0.92[EUR][1000 genomes]
rs1432592	0.81[EUR][1000 genomes]
rs17036960	0.82[EUR][1000 genomes]
rs17041538	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2888846	0.87[EUR][1000 genomes]
rs34346262	0.87[EUR][1000 genomes]
rs35335704	0.81[EUR][1000 genomes]
rs35519603	0.82[EUR][1000 genomes]
rs6797	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302174	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73181878	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7954485	0.81[EUR][1000 genomes]
rs7968892	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969370	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969665	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972183	0.81[EUR][1000 genomes]
rs9645790	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9645791	0.91[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
rs11112493	C12orf75	cis	Artery Aorta	GTEx
rs11112493	C12orf75	cis	Artery Tibial	GTEx

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105734800-105776600	Weak transcription	Esophagus	oesophagus
2	chr12:105735000-105776600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:105735600-105766800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:105735600-105776600	Weak transcription	Fetal Intestine Small	intestine
5	chr12:105746000-105776800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:105747000-105772600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:105747000-105773200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:105747200-105766000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:105748000-105776600	Weak transcription	Gastric	stomach
10	chr12:105748800-105776800	Weak transcription	Pancreas	Pancrea
11	chr12:105749600-105763800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:105749800-105765600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:105751000-105769000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr12:105751200-105766200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:105751200-105776800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:105751400-105775200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:105752200-105765000	Weak transcription	Stomach Mucosa	stomach
18	chr12:105752400-105776400	Weak transcription	Aorta	Aorta
19	chr12:105752600-105769000	Strong transcription	Dnd41	blood
20	chr12:105754000-105764200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:105754200-105763800	Weak transcription	NHEK	skin
22	chr12:105754200-105766400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:105754600-105766600	Weak transcription	Fetal Stomach	stomach
24	chr12:105754800-105764000	Weak transcription	Thymus	Thymus
25	chr12:105755600-105764400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr12:105757200-105763800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:105758400-105764400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:105758800-105769800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:105759200-105767800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:105759800-105764200	Weak transcription	HMEC	breast
31	chr12:105759800-105770200	Weak transcription	Primary B cells from cord blood	blood
32	chr12:105760000-105763800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:105760000-105764000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:105760000-105767000	Weak transcription	Primary T cells from cord blood	blood
35	chr12:105760000-105776600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:105760200-105765000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:105760800-105765800	Weak transcription	HUVEC	blood vessel
38	chr12:105761000-105766000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:105761000-105770400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:105761400-105765400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:105761600-105767600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:105761800-105764200	Genic enhancers	NHDF-Ad	bronchial
43	chr12:105762000-105764600	Strong transcription	Fetal Thymus	thymus
44	chr12:105762200-105772800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:105762400-105763600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:105762400-105763600	Weak transcription	A549	lung
47	chr12:105762400-105763600	Enhancers	Osteobl	bone
48	chr12:105762400-105766400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:105762400-105772800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:105762600-105763600	Weak transcription	NH-A	brain

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