Variant report

Variant	rs1432592
Chromosome Location	chr12:105726077-105726078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr12:105726053-105726423	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr12:105725821-105726422	MCF10A-Er-Src	breast:	n/a	n/a
3	PBX3	chr12:105725174-105726408	SK-N-SH	brain:	n/a	chr12:105725434-105725443
4	MYC	chr12:105725898-105726321	MCF10A-Er-Src	breast:	n/a	n/a
5	TCF12	chr12:105725617-105726078	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr12:105723720-105726217	A549	lung:	n/a	n/a
7	STAT3	chr12:105725897-105726251	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr12:105725662-105726421	MCF10A-Er-Src	breast:	n/a	chr12:105725672-105725683
9	MYC	chr12:105725661-105726345	MCF10A-Er-Src	breast:	n/a	n/a
10	JUND	chr12:105725668-105726359	H1-hESC	embryonic stem cell:	n/a	chr12:105725672-105725683
11	POLR2A	chr12:105724077-105726492	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105720223..105722150-chr12:105723159..105726102,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264749	TF binding region
ENSG00000257642	Chromatin interaction
ENSG00000264749	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]
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]
rs7972183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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
rs1432592	C12orf75	cis	Artery Aorta	GTEx
rs1432592	C12orf75	cis	Artery Tibial	GTEx

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105724000-105726400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:105724200-105726600	Active TSS	NHDF-Ad	bronchial
3	chr12:105724200-105726800	Active TSS	Aorta	Aorta
4	chr12:105724400-105727800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:105725000-105726200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr12:105725000-105726200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr12:105725000-105726200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:105725200-105726200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:105725200-105726200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr12:105725200-105726200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr12:105725200-105726600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr12:105725200-105727800	Weak transcription	Psoas Muscle	Psoas
13	chr12:105725200-105728600	Enhancers	Placenta	Placenta
14	chr12:105725200-105734600	Weak transcription	Esophagus	oesophagus
15	chr12:105725400-105726200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:105725400-105726200	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr12:105725400-105726200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr12:105725400-105726200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr12:105725400-105726200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:105725400-105726200	Flanking Active TSS	A549	lung
21	chr12:105725400-105726200	Flanking Active TSS	Osteobl	bone
22	chr12:105725400-105726400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:105725400-105726400	Flanking Active TSS	HMEC	breast
24	chr12:105725400-105726400	Flanking Active TSS	NH-A	brain
25	chr12:105725400-105726600	Flanking Active TSS	NHEK	skin
26	chr12:105725400-105726800	Flanking Active TSS	Dnd41	blood
27	chr12:105725600-105726200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:105725600-105726200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:105725600-105726200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr12:105725600-105726200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr12:105725600-105726200	Enhancers	Primary hematopoietic stem cells	blood
32	chr12:105725600-105726400	Flanking Active TSS	NHLF	lung
33	chr12:105725600-105726800	Weak transcription	Brain Anterior Caudate	brain
34	chr12:105725600-105727000	Enhancers	Primary B cells from peripheral blood	blood
35	chr12:105725600-105727000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr12:105725600-105727000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr12:105725600-105727000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:105725600-105727200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:105725600-105727400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr12:105725600-105729800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr12:105725600-105730200	Weak transcription	Pancreas	Pancrea
42	chr12:105725600-105747200	Weak transcription	Gastric	stomach
43	chr12:105725800-105726200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:105725800-105726200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:105725800-105726200	Enhancers	Primary B cells from cord blood	blood
46	chr12:105725800-105726200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:105725800-105726200	Enhancers	Fetal Brain Female	brain
48	chr12:105725800-105726400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
49	chr12:105725800-105726400	Enhancers	Fetal Intestine Large	intestine
50	chr12:105725800-105726600	Enhancers	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links