Variant report

Variant	rs7972183
Chromosome Location	chr12:105727520-105727521
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105724386..105725983-chr12:105726956..105729151,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235162	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	0.81[EUR][1000 genomes]
rs10861400	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861403	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10861407	0.81[EUR][1000 genomes]
rs10861409	0.81[EUR][1000 genomes]
rs10861411	0.81[EUR][1000 genomes]
rs10861412	0.81[EUR][1000 genomes]
rs11112469	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112470	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112473	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112475	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11112478	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112480	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112482	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112483	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11112484	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11112485	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11112486	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11112487	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11112488	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11112492	0.81[EUR][1000 genomes]
rs11112493	0.81[EUR][1000 genomes]
rs12829692	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12831150	0.84[EUR][1000 genomes]
rs1432592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036960	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2888846	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34189496	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs34346262	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35325227	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35335704	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35519603	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6797	0.81[EUR][1000 genomes]
rs7131942	0.81[EUR][1000 genomes]
rs7302174	0.81[EUR][1000 genomes]
rs7954485	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954722	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][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
rs7972183	C12orf75	cis	Artery Tibial	GTEx
rs7972183	C12orf75	cis	Artery Aorta	GTEx

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105724400-105727800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:105725200-105727800	Weak transcription	Psoas Muscle	Psoas
3	chr12:105725200-105728600	Enhancers	Placenta	Placenta
4	chr12:105725200-105734600	Weak transcription	Esophagus	oesophagus
5	chr12:105725600-105729800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr12:105725600-105730200	Weak transcription	Pancreas	Pancrea
7	chr12:105725600-105747200	Weak transcription	Gastric	stomach
8	chr12:105725800-105727800	Weak transcription	Fetal Stomach	stomach
9	chr12:105725800-105729000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:105725800-105729800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:105725800-105734600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:105726000-105727800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:105726000-105727800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr12:105726000-105727800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:105726000-105728200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:105726000-105729200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr12:105726000-105730200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:105726000-105731200	Weak transcription	Hela-S3	cervix
19	chr12:105726000-105734600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:105726000-105734600	Weak transcription	Fetal Intestine Small	intestine
21	chr12:105726200-105727600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:105726200-105728200	Enhancers	Primary T cells fromperipheralblood	blood
23	chr12:105726200-105728200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr12:105726200-105728200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:105726200-105728800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr12:105726200-105729800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr12:105726200-105730000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr12:105726200-105731200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr12:105726200-105731200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:105726200-105731200	Weak transcription	HepG2	liver
31	chr12:105726200-105734600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:105726400-105728600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:105726400-105728800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:105726600-105728800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr12:105726800-105728400	Enhancers	HSMMtube	muscle
36	chr12:105726800-105729000	Flanking Active TSS	NH-A	brain
37	chr12:105726800-105729200	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
38	chr12:105726800-105730200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:105727000-105727800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:105727000-105727800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:105727000-105727800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:105727000-105728000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:105727000-105728400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr12:105727000-105729400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr12:105727000-105731000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr12:105727000-105734600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:105727200-105727600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:105727200-105727600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr12:105727200-105727600	Enhancers	Osteobl	bone
50	chr12:105727200-105727800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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