Variant report

Variant	rs7612191
Chromosome Location	chr3:47420150-47420151
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	POLR2A	chr3:47419974-47423464	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:47403977..47407169-chr3:47419054..47422081,3	K562	blood:
2	chr3:47023369..47025258-chr3:47417930..47420658,2	MCF-7	breast:
3	chr3:47321814..47325452-chr3:47418885..47424380,8	K562	blood:
4	chr3:47419982..47424786-chr3:47552828..47558423,7	K562	blood:

Variant related genes	Relation type
PTPN23	TF binding region
ENSG00000088727	Chromatin interaction
ENSG00000114648	Chromatin interaction
ENSG00000163832	Chromatin interaction
ENSG00000160799	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10865947	0.87[AMR][1000 genomes]
rs1091068	0.87[AMR][1000 genomes]
rs11707272	0.87[AMR][1000 genomes]
rs1531874	0.87[AMR][1000 genomes]
rs1872165	0.87[AMR][1000 genomes]
rs2170814	0.87[AMR][1000 genomes]
rs295431	0.87[AMR][1000 genomes]
rs295432	0.87[AMR][1000 genomes]
rs295450	0.87[AMR][1000 genomes]
rs295453	0.87[AMR][1000 genomes]
rs295454	0.87[AMR][1000 genomes]
rs295455	0.87[AMR][1000 genomes]
rs295456	0.87[AMR][1000 genomes]
rs295459	0.87[AMR][1000 genomes]
rs4858812	0.87[AMR][1000 genomes]
rs4858823	0.87[AMR][1000 genomes]
rs4858855	0.87[AMR][1000 genomes]
rs6442068	0.87[AMR][1000 genomes]
rs6442069	0.87[AMR][1000 genomes]
rs648226	0.87[AMR][1000 genomes]
rs6785538	0.87[AMR][1000 genomes]
rs6788978	0.87[AMR][1000 genomes]
rs7372780	0.87[AMR][1000 genomes]
rs7644043	0.87[AMR][1000 genomes]
rs807930	0.87[AMR][1000 genomes]
rs900689	0.87[AMR][1000 genomes]
rs900690	0.87[AMR][1000 genomes]
rs900694	0.87[AMR][1000 genomes]
rs9828124	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	esv1807553	chr3:47393616-47470763	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv3802	chr3:47396674-47441951	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47401600-47421200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:47413200-47420200	Weak transcription	Spleen	Spleen
3	chr3:47413200-47420400	Weak transcription	Fetal Intestine Large	intestine
4	chr3:47413200-47420600	Weak transcription	Adipose Nuclei	Adipose
5	chr3:47413400-47420400	Weak transcription	Fetal Intestine Small	intestine
6	chr3:47413400-47420800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:47413600-47421000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:47414200-47421000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:47416200-47420800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:47417200-47420200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:47417600-47420600	Weak transcription	Brain Hippocampus Middle	brain
12	chr3:47417600-47421000	Weak transcription	NHLF	lung
13	chr3:47417800-47420400	Enhancers	HepG2	liver
14	chr3:47418000-47420600	Enhancers	K562	blood
15	chr3:47418000-47421600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr3:47418600-47420400	Enhancers	GM12878-XiMat	blood
17	chr3:47418600-47421000	Weak transcription	Brain Anterior Caudate	brain
18	chr3:47418800-47421000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:47419000-47420600	Weak transcription	Brain Substantia Nigra	brain
20	chr3:47419000-47420600	Weak transcription	Thymus	Thymus
21	chr3:47419000-47420800	Weak transcription	Fetal Muscle Leg	muscle
22	chr3:47419000-47421000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr3:47419000-47421000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:47419000-47421600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr3:47419200-47420200	Weak transcription	Liver	Liver
26	chr3:47419200-47420400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:47419200-47420400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr3:47419200-47420600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:47419200-47420600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr3:47419200-47420600	Weak transcription	Stomach Mucosa	stomach
31	chr3:47419200-47420800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:47419200-47420800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr3:47419200-47420800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:47419200-47420800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr3:47419200-47420800	Weak transcription	Placenta	Placenta
36	chr3:47419200-47420800	Weak transcription	Left Ventricle	heart
37	chr3:47419200-47420800	Weak transcription	Lung	lung
38	chr3:47419200-47420800	Weak transcription	Pancreas	Pancrea
39	chr3:47419200-47421000	Weak transcription	Primary B cells from cord blood	blood
40	chr3:47419200-47421000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr3:47419200-47421000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:47419200-47421000	Weak transcription	Esophagus	oesophagus
43	chr3:47419200-47421000	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr3:47419200-47421200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr3:47419400-47420400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr3:47419400-47420800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr3:47419800-47420400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr3:47419800-47420600	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links