Variant report

Variant	rs1478964
Chromosome Location	chr4:22682083-22682084
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12501294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1843485	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2127177	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2219802	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2581964	0.88[EUR][1000 genomes]
rs2581968	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2581980	0.95[EUR][1000 genomes]
rs2581991	0.87[ASN][1000 genomes]
rs2581992	0.87[ASN][1000 genomes]
rs2618951	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2618953	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2618960	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2629975	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3101799	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4697333	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57301753	0.90[AMR][1000 genomes];0.90[EUR][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	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv829883	chr4:22666326-22842517	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22677200-22682200	Enhancers	Colon Smooth Muscle	Colon
2	chr4:22678600-22687000	Weak transcription	Thymus	Thymus
3	chr4:22678800-22687200	Weak transcription	Fetal Thymus	thymus
4	chr4:22679400-22682200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr4:22680000-22682400	Enhancers	Liver	Liver
6	chr4:22680000-22682600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:22680600-22682200	Enhancers	Adipose Nuclei	Adipose
8	chr4:22680800-22682200	Enhancers	HSMM	muscle
9	chr4:22680800-22682600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr4:22680800-22683200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr4:22681000-22682200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr4:22681000-22682400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr4:22681000-22682600	Enhancers	Primary T cells from cord blood	blood
14	chr4:22681400-22682600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr4:22681400-22682800	Enhancers	HSMMtube	muscle
16	chr4:22681600-22682400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:22681600-22682600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr4:22681800-22682200	Enhancers	Primary hematopoietic stem cells	blood
19	chr4:22681800-22682200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:22681800-22682200	Enhancers	Fetal Muscle Leg	muscle
21	chr4:22681800-22682600	Enhancers	Primary B cells from cord blood	blood
22	chr4:22681800-22683200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:22682000-22682200	Enhancers	Fetal Intestine Small	intestine
24	chr4:22682000-22683800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:22682000-22684600	Weak transcription	Fetal Intestine Large	intestine

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