Variant report

Variant	rs4953457
Chromosome Location	chr2:47304993-47304994
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47294856..47296527-chr2:47304225..47305749,2	K562	blood:
2	chr2:47303169..47307562-chr2:47312603..47317235,6	MCF-7	breast:
3	chr2:47295023..47298657-chr2:47300855..47310213,9	MCF-7	breast:
4	chr2:47299662..47307017-chr2:47401146..47405423,11	MCF-7	breast:
5	chr2:47302688..47305561-chr2:47417562..47420065,2	MCF-7	breast:
6	chr2:47303567..47305650-chr2:47402642..47405179,3	MCF-7	breast:
7	chr2:47304449..47306633-chr2:47306977..47308538,2	MCF-7	breast:
8	chr2:47298364..47306534-chr2:47399903..47404660,8	K562	blood:
9	chr2:47303667..47305608-chr2:47307112..47308819,2	MCF-7	breast:
10	chr2:47304605..47306931-chr2:47316870..47318800,2	MCF-7	breast:
11	chr2:47297108..47300673-chr2:47304396..47307131,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225187	Chromatin interaction
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1046263	0.82[ASN][1000 genomes]
rs4952864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953458	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4953459	0.95[ASN][1000 genomes]
rs6544954	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7569495	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs940737	0.81[AMR][1000 genomes]
rs9973596	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv984437	chr2:47270533-47307361	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv873998	chr2:47273732-47313624	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47298800-47305200	Strong transcription	Thymus	Thymus
2	chr2:47299200-47306000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:47300600-47310400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:47301000-47306600	Weak transcription	Brain Germinal Matrix	brain
5	chr2:47301200-47305200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:47301200-47305800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:47301600-47307200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr2:47302000-47305400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:47302000-47306000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:47302000-47306200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:47302000-47307200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:47302000-47307400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:47302200-47305400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:47302200-47307400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:47302200-47308400	Enhancers	Lung	lung
16	chr2:47302400-47305200	Enhancers	HUVEC	blood vessel
17	chr2:47302400-47305400	Enhancers	NH-A	brain
18	chr2:47302400-47306800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:47302400-47307600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:47302400-47307600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:47302400-47308400	Enhancers	Placenta	Placenta
22	chr2:47302600-47305000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:47302600-47305000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:47302600-47305000	Enhancers	Osteobl	bone
25	chr2:47302600-47305200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:47302600-47305200	Enhancers	HMEC	breast
27	chr2:47302600-47305400	Enhancers	Brain Anterior Caudate	brain
28	chr2:47302600-47305800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:47302600-47307400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:47302600-47307600	Enhancers	NHDF-Ad	bronchial
31	chr2:47302600-47308400	Enhancers	Stomach Mucosa	stomach
32	chr2:47302800-47305200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:47302800-47305400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:47302800-47305400	Weak transcription	Dnd41	blood
35	chr2:47302800-47306000	Enhancers	Duodenum Mucosa	Duodenum
36	chr2:47302800-47306000	Genic enhancers	Fetal Intestine Small	intestine
37	chr2:47302800-47306400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr2:47302800-47307000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr2:47302800-47308200	Enhancers	Colonic Mucosa	Colon
40	chr2:47303000-47305000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:47303200-47305000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:47303200-47305000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:47303200-47305400	Enhancers	Placenta Amnion	Placenta Amnion
44	chr2:47303200-47306000	Weak transcription	Fetal Thymus	thymus
45	chr2:47303200-47306800	Weak transcription	Fetal Brain Male	brain
46	chr2:47303200-47307000	Weak transcription	Fetal Brain Female	brain
47	chr2:47303200-47308400	Enhancers	Pancreas	Pancrea
48	chr2:47303400-47308800	Enhancers	Adipose Nuclei	Adipose
49	chr2:47303600-47306800	Weak transcription	Fetal Stomach	stomach
50	chr2:47303600-47307600	Enhancers	Sigmoid Colon	Sigmoid Colon

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