Variant report

Variant	rs4964133
Chromosome Location	chr12:105721184-105721185
allele	A/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	BCLAF1	chr12:105720545-105721286	GM12878	blood:	n/a	n/a
2	IKZF1	chr12:105720457-105721780	GM12878	blood:	n/a	n/a
3	MAZ	chr12:105720657-105721269	GM12878	blood:	n/a	n/a
4	NFIC	chr12:105720409-105721840	GM12878	blood:	n/a	n/a
5	TCF12	chr12:105720437-105721201	SK-N-SH	brain:	n/a	n/a
6	NFIC	chr12:105720558-105721196	GM12878	blood:	n/a	n/a
7	ZNF384	chr12:105720352-105721408	GM12878	blood:	n/a	n/a
8	WRNIP1	chr12:105721040-105721209	GM12878	blood:	n/a	n/a
9	TCF12	chr12:105720484-105721198	SK-N-SH	brain:	n/a	n/a
10	CHD1	chr12:105720526-105721222	GM12878	blood:	n/a	n/a
11	STAT5A	chr12:105721039-105721348	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:

Variant related genes	Relation type
ENSG00000257642	TF binding region
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	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11836865	0.84[ASN][1000 genomes]
rs7315360	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7315577	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9669523	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105713400-105724000	Weak transcription	Pancreas	Pancrea
2	chr12:105713800-105723800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:105714600-105724000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:105715800-105723800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:105716000-105723800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:105716400-105723800	Weak transcription	HSMMtube	muscle
7	chr12:105716600-105723600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:105716600-105723800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:105716800-105723600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:105716800-105723800	Weak transcription	Fetal Intestine Large	intestine
11	chr12:105718000-105723800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:105718200-105723800	Weak transcription	Stomach Mucosa	stomach
13	chr12:105719000-105723800	Weak transcription	Fetal Intestine Small	intestine
14	chr12:105719000-105723800	Weak transcription	HSMM	muscle
15	chr12:105719000-105724000	Weak transcription	Thymus	Thymus
16	chr12:105719600-105721200	Enhancers	HMEC	breast
17	chr12:105719800-105721400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:105719800-105721400	Enhancers	Dnd41	blood
19	chr12:105719800-105721400	Enhancers	NH-A	brain
20	chr12:105720000-105721200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:105720000-105721200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:105720000-105721800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr12:105720000-105723800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr12:105720200-105721200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:105720400-105721200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:105720400-105721200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:105720400-105721200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:105720400-105721200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:105720400-105721200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr12:105720400-105721200	Enhancers	A549	lung
31	chr12:105720400-105721200	Flanking Active TSS	HUVEC	blood vessel
32	chr12:105720400-105721200	Enhancers	NHEK	skin
33	chr12:105720400-105721200	Enhancers	NHLF	lung
34	chr12:105720400-105721400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:105720400-105721400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:105720400-105721400	Flanking Active TSS	GM12878-XiMat	blood
37	chr12:105720400-105721800	Enhancers	Primary B cells from peripheral blood	blood
38	chr12:105720400-105723800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:105720600-105721200	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr12:105720600-105721200	Enhancers	Osteobl	bone
41	chr12:105720800-105721200	Enhancers	Hela-S3	cervix
42	chr12:105720800-105722400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:105721000-105721200	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr12:105721000-105721200	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr12:105721000-105721200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr12:105721000-105721200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr12:105721000-105721200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr12:105721000-105721200	Flanking Active TSS	NHDF-Ad	bronchial
49	chr12:105721000-105722400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:105721000-105723600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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