Variant report

Variant	rs11938043
Chromosome Location	chr4:57935253-57935254
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10516162	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573051	0.80[CEU][hapmap];0.91[AMR][1000 genomes]
rs11573063	0.81[CEU][hapmap];0.91[AMR][1000 genomes]
rs11573068	0.91[AMR][1000 genomes]
rs11934877	0.80[CEU][hapmap];0.91[AMR][1000 genomes]
rs17183073	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17183228	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17183249	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17761305	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17787988	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3806744	0.80[CEU][hapmap];0.83[AMR][1000 genomes]
rs3849657	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3849658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3986230	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4865174	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4865178	0.82[AMR][1000 genomes]
rs58389605	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60727341	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs62308265	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62308280	0.92[AMR][1000 genomes]
rs6829171	0.83[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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:57918600-57936800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr4:57923800-57937200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:57927000-57937400	Weak transcription	Small Intestine	intestine
5	chr4:57929600-57944400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:57930800-57937400	Weak transcription	Fetal Kidney	kidney
7	chr4:57931200-57936000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:57931200-57936600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:57931200-57937000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:57931600-57940600	Weak transcription	Hela-S3	cervix
11	chr4:57931800-57938800	Weak transcription	Pancreas	Pancrea
12	chr4:57932000-57935800	Strong transcription	NHEK	skin
13	chr4:57932200-57935400	Weak transcription	Lung	lung
14	chr4:57932400-57935800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:57932400-57936000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:57932400-57936800	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:57932400-57945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:57932400-57947600	Genic enhancers	Osteobl	bone
19	chr4:57932600-57936000	Enhancers	A549	lung
20	chr4:57932600-57936600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:57932600-57936800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:57932600-57936800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:57932600-57937200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:57932600-57937200	Weak transcription	Adipose Nuclei	Adipose
25	chr4:57932600-57937200	Weak transcription	Fetal Intestine Large	intestine
26	chr4:57932600-57937600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr4:57932600-57944000	Weak transcription	Fetal Stomach	stomach
28	chr4:57932800-57936600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:57934200-57935600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:57934200-57935600	Genic enhancers	HSMMtube	muscle
31	chr4:57934200-57935800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:57934200-57935800	Enhancers	Fetal Heart	heart
33	chr4:57934200-57936200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:57934200-57936200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr4:57934200-57936200	Enhancers	Left Ventricle	heart
36	chr4:57934400-57936200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:57934400-57951600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:57934600-57935400	Weak transcription	NH-A	brain
39	chr4:57934600-57935600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr4:57934600-57935600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr4:57934600-57935600	Enhancers	HSMM	muscle
42	chr4:57934600-57935600	Enhancers	NHLF	lung
43	chr4:57934600-57935800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr4:57934600-57935800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr4:57934600-57935800	Enhancers	Right Atrium	heart
46	chr4:57934600-57936000	Weak transcription	HMEC	breast
47	chr4:57934600-57948200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:57934800-57935800	Enhancers	HUVEC	blood vessel
49	chr4:57935000-57935400	Enhancers	Colon Smooth Muscle	Colon
50	chr4:57935000-57935800	Enhancers	Psoas Muscle	Psoas

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