Variant report

Variant	rs72957562
Chromosome Location	chr3:53271426-53271427
allele	A/C
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	chr3:53271271-53271579	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:53268810..53273941-chr3:53286770..53291307,7	MCF-7	breast:
2	chr3:53268759..53271558-chr3:53275387..53277889,3	MCF-7	breast:
3	chr3:53268931..53277907-chr3:53285563..53291617,11	MCF-7	breast:
4	chr3:53266350..53272175-chr3:53273806..53279972,8	K562	blood:

Variant related genes	Relation type
TKT	TF binding region
ENSG00000163931	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs55739626	1.00[AMR][1000 genomes]
rs55797425	1.00[AMR][1000 genomes]
rs56138740	1.00[AMR][1000 genomes]
rs57085673	1.00[AMR][1000 genomes]
rs57188310	1.00[AMR][1000 genomes]
rs57320366	1.00[AMR][1000 genomes]
rs57530569	1.00[AMR][1000 genomes]
rs58006923	1.00[AMR][1000 genomes]
rs58191586	1.00[AMR][1000 genomes]
rs58563464	1.00[AMR][1000 genomes]
rs60407612	1.00[AMR][1000 genomes]
rs60891705	1.00[AMR][1000 genomes]
rs73840218	1.00[AMR][1000 genomes]
rs73840219	1.00[AMR][1000 genomes]
rs73840220	1.00[AMR][1000 genomes]
rs73840224	1.00[AMR][1000 genomes]
rs73840228	1.00[AMR][1000 genomes]
rs73840236	1.00[AMR][1000 genomes]
rs73840239	1.00[AMR][1000 genomes]
rs73840247	1.00[AMR][1000 genomes]
rs73840260	1.00[AMR][1000 genomes]
rs73840281	1.00[AMR][1000 genomes]
rs73840298	1.00[AMR][1000 genomes]
rs73843106	1.00[AMR][1000 genomes]
rs73843108	1.00[AMR][1000 genomes]
rs73843110	1.00[AMR][1000 genomes]
rs73843111	1.00[AMR][1000 genomes]
rs73843112	1.00[AMR][1000 genomes]
rs73843113	1.00[AMR][1000 genomes]
rs73843115	1.00[AMR][1000 genomes]
rs73843117	1.00[AMR][1000 genomes]
rs73843120	1.00[AMR][1000 genomes]
rs73843121	1.00[AMR][1000 genomes]
rs73843124	1.00[AMR][1000 genomes]
rs73843127	1.00[AMR][1000 genomes]
rs73843129	1.00[AMR][1000 genomes]
rs73843130	1.00[AMR][1000 genomes]
rs73843148	1.00[AMR][1000 genomes]
rs874586	1.00[AMR][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	nsv834699	chr3:53151876-53325808	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv517233	chr3:53175557-53321002	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53255600-53274400	Strong transcription	GM12878-XiMat	blood
2	chr3:53256400-53272400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:53256400-53276400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:53256400-53276600	Strong transcription	Fetal Brain Female	brain
5	chr3:53256400-53276800	Strong transcription	Fetal Stomach	stomach
6	chr3:53256600-53272000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:53256800-53272200	Strong transcription	Brain Germinal Matrix	brain
8	chr3:53256800-53276600	Strong transcription	Thymus	Thymus
9	chr3:53256800-53277000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:53256800-53277000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr3:53257000-53276800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr3:53257000-53276800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
13	chr3:53257000-53277800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:53257200-53276200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr3:53257200-53276600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:53257400-53276200	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr3:53257400-53276600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr3:53257400-53277200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr3:53257400-53278800	Strong transcription	Primary T cells from cord blood	blood
20	chr3:53257400-53280200	Strong transcription	Dnd41	blood
21	chr3:53257600-53276400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr3:53257600-53276800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:53257800-53276600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr3:53258200-53276800	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr3:53258400-53276800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr3:53258600-53276600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:53260200-53272400	Weak transcription	Fetal Brain Male	brain
28	chr3:53263000-53272200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr3:53263000-53274000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:53263200-53274400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr3:53266200-53273600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr3:53266400-53272600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:53266800-53276600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:53266800-53279000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:53267200-53271600	Genic enhancers	Primary monocytes fromperipheralblood	blood
36	chr3:53267200-53272800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
37	chr3:53268200-53276600	Strong transcription	Primary B cells from cord blood	blood
38	chr3:53269200-53272400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr3:53269400-53272800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:53269400-53273000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr3:53269400-53275200	Genic enhancers	HUVEC	blood vessel
42	chr3:53269400-53276600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:53269600-53272000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:53269600-53273800	Genic enhancers	Fetal Intestine Small	intestine
45	chr3:53269600-53274200	Genic enhancers	NHLF	lung
46	chr3:53269600-53274400	Genic enhancers	NHDF-Ad	bronchial
47	chr3:53269600-53275000	Genic enhancers	HMEC	breast
48	chr3:53269600-53280400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:53269800-53271600	Genic enhancers	NH-A	brain
50	chr3:53269800-53273800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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