Variant report

Variant	rs1713960
Chromosome Location	chr4:57922699-57922700
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10031585	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11947115	0.82[EUR][1000 genomes]
rs1277297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713953	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713958	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718834	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs4561981	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6848820	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7673762	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs7698085	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57899400-57925000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:57915400-57923600	Weak transcription	HSMM	muscle
4	chr4:57915600-57923000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:57915600-57924200	Enhancers	Left Ventricle	heart
6	chr4:57915800-57930200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:57917600-57931000	Weak transcription	Pancreas	Pancrea
8	chr4:57917800-57926000	Weak transcription	Fetal Kidney	kidney
9	chr4:57918000-57923400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:57918000-57929000	Weak transcription	HUVEC	blood vessel
11	chr4:57918600-57923600	Strong transcription	HSMMtube	muscle
12	chr4:57918600-57929200	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:57918600-57936800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr4:57920000-57922800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:57920400-57925600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:57920400-57926200	Weak transcription	A549	lung
17	chr4:57920400-57930200	Weak transcription	Lung	lung
18	chr4:57920600-57923600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:57920600-57924400	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr4:57920600-57927600	Weak transcription	HMEC	breast
21	chr4:57921000-57924200	Strong transcription	Osteobl	bone
22	chr4:57921000-57926800	Weak transcription	Small Intestine	intestine
23	chr4:57921000-57931000	Weak transcription	NHEK	skin
24	chr4:57921200-57923800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:57921200-57924800	Enhancers	Right Ventricle	heart
26	chr4:57921400-57924200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:57921600-57923000	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr4:57921600-57923800	Weak transcription	Spleen	Spleen
29	chr4:57921800-57923000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:57921800-57923000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr4:57921800-57924000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:57921800-57928200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:57922000-57922800	Enhancers	Brain Anterior Caudate	brain
34	chr4:57922000-57923000	Enhancers	NHLF	lung
35	chr4:57922000-57923400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:57922000-57923600	Enhancers	Fetal Lung	lung
37	chr4:57922000-57923800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:57922000-57926200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:57922200-57922800	Flanking Active TSS	Fetal Heart	heart
40	chr4:57922200-57923000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr4:57922200-57923000	Enhancers	Brain Angular Gyrus	brain
42	chr4:57922200-57923000	Enhancers	Brain Cingulate Gyrus	brain
43	chr4:57922200-57923000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr4:57922400-57922800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:57922400-57922800	Enhancers	Fetal Intestine Small	intestine
46	chr4:57922400-57923000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr4:57922400-57923000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr4:57922400-57923000	Enhancers	Brain Hippocampus Middle	brain
49	chr4:57922400-57923000	Enhancers	Brain Substantia Nigra	brain
50	chr4:57922400-57923000	Enhancers	Duodenum Mucosa	Duodenum

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