Variant report

Variant	rs9669523
Chromosome Location	chr12:105720359-105720360
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	ZNF384	chr12:105720352-105721408	GM12878	blood:	n/a	n/a
2	RUNX3	chr12:105720301-105721109	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105720223..105722150-chr12:105723159..105726102,2	MCF-7	breast:
2	chr12:105712887..105714905-chr12:105718530..105720792,2	MCF-7	breast:

Variant related genes	Relation type
C12orf75	TF binding region
ENSG00000235162	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11112464	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11836865	0.84[ASN][1000 genomes]
rs4964133	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7315360	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315577	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105713400-105724000	Weak transcription	Pancreas	Pancrea
2	chr12:105713800-105720400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:105713800-105723800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:105714600-105724000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:105715800-105723800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:105716000-105723800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:105716200-105720400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:105716400-105720400	Weak transcription	A549	lung
9	chr12:105716400-105723800	Weak transcription	HSMMtube	muscle
10	chr12:105716600-105720600	Weak transcription	Osteobl	bone
11	chr12:105716600-105723600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:105716600-105723800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:105716800-105723600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:105716800-105723800	Weak transcription	Fetal Intestine Large	intestine
15	chr12:105717200-105720600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:105718000-105720400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:105718000-105723800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:105718200-105720400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:105718200-105721000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:105718200-105723800	Weak transcription	Stomach Mucosa	stomach
21	chr12:105719000-105720400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:105719000-105720400	Weak transcription	NHLF	lung
23	chr12:105719000-105723800	Weak transcription	Fetal Intestine Small	intestine
24	chr12:105719000-105723800	Weak transcription	HSMM	muscle
25	chr12:105719000-105724000	Weak transcription	Thymus	Thymus
26	chr12:105719600-105721200	Enhancers	HMEC	breast
27	chr12:105719800-105720400	Enhancers	HUVEC	blood vessel
28	chr12:105719800-105721400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:105719800-105721400	Enhancers	Dnd41	blood
30	chr12:105719800-105721400	Enhancers	NH-A	brain
31	chr12:105720000-105720400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr12:105720000-105721200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:105720000-105721200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:105720000-105721800	Enhancers	Primary T cells fromperipheralblood	blood
35	chr12:105720000-105723800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr12:105720200-105720400	Enhancers	GM12878-XiMat	blood
37	chr12:105720200-105720600	Flanking Active TSS	NHDF-Ad	bronchial
38	chr12:105720200-105720800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:105720200-105721200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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