Variant report

Variant	rs301133
Chromosome Location	chr4:53792491-53792492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs301096	0.89[AFR][1000 genomes]
rs301113	0.89[AFR][1000 genomes]
rs301120	0.92[AFR][1000 genomes]
rs301125	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs301126	0.87[AMR][1000 genomes]
rs301127	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs301128	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs301129	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs301130	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs301131	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs301132	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs301134	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs443054	0.89[AFR][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	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53729200-53807800	Weak transcription	Esophagus	oesophagus
2	chr4:53734600-53822400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:53768800-53815600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:53769000-53804400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr4:53774600-53798400	Weak transcription	HSMMtube	muscle
6	chr4:53782200-53799000	Weak transcription	NHLF	lung
7	chr4:53782400-53794600	Weak transcription	Fetal Stomach	stomach
8	chr4:53782400-53797200	Weak transcription	Liver	Liver
9	chr4:53785600-53798400	Weak transcription	NHDF-Ad	bronchial
10	chr4:53786600-53861400	Weak transcription	Primary B cells from cord blood	blood
11	chr4:53786800-53799000	Weak transcription	Primary T cells from cord blood	blood
12	chr4:53789800-53793000	Enhancers	Fetal Intestine Small	intestine
13	chr4:53790200-53799400	Weak transcription	Left Ventricle	heart
14	chr4:53790600-53793000	Enhancers	Fetal Intestine Large	intestine
15	chr4:53791000-53793400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr4:53791600-53792600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:53791600-53792800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:53791600-53793000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:53791600-53793000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr4:53791600-53793000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:53791600-53793000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:53791600-53793000	Enhancers	Gastric	stomach
23	chr4:53791600-53793200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:53791600-53793200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:53791600-53793800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:53791600-53794000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:53791600-53794000	Enhancers	Fetal Heart	heart
28	chr4:53791600-53795800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:53791600-53795800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:53791800-53792600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr4:53791800-53792600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:53791800-53792600	Enhancers	Stomach Mucosa	stomach
33	chr4:53791800-53793000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:53791800-53793000	Enhancers	Fetal Lung	lung
35	chr4:53791800-53793400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr4:53792000-53792600	Enhancers	Fetal Brain Male	brain
37	chr4:53792000-53792600	Enhancers	Fetal Muscle Leg	muscle
38	chr4:53792000-53792800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr4:53792000-53793000	Enhancers	H9 Cell Line	embryonic stem cell
40	chr4:53792000-53793000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:53792200-53798600	Weak transcription	NH-A	brain
42	chr4:53792200-53798800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:53792200-53799000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr4:53792400-53792800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:53792400-53793000	Enhancers	Pancreas	Pancrea
46	chr4:53792400-53793200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr4:53792400-53793200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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