Variant report

Variant	rs11208943
Chromosome Location	chr1:67142675-67142676
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:67139502..67143000-chr1:67146148..67149567,3	K562	blood:

Variant related genes	Relation type
ENSG00000118473	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10493412	0.85[CEU][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap]
rs10889630	0.85[CEU][hapmap]
rs10889645	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10889646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11208921	0.84[CEU][hapmap];0.85[JPT][hapmap]
rs11208933	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs11208946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1159632	0.85[CEU][hapmap];0.84[GIH][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap]
rs12081718	0.85[CEU][hapmap];0.90[TSI][hapmap]
rs12117202	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs12137531	0.91[CEU][hapmap];0.84[JPT][hapmap]
rs12141816	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs12407460	0.86[JPT][hapmap]
rs1325262	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs1325264	0.86[JPT][hapmap]
rs1338188	0.85[CEU][hapmap];0.90[TSI][hapmap]
rs1338189	0.85[CEU][hapmap]
rs1536112	0.86[JPT][hapmap]
rs17129256	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs17129315	0.85[JPT][hapmap]
rs17129318	0.82[JPT][hapmap]
rs17436311	0.85[CEU][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap]
rs1998716	0.85[JPT][hapmap]
rs2025594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4147266	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs6687096	0.85[CEU][hapmap];0.84[GIH][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap]
rs6689755	0.86[JPT][hapmap]
rs6692318	0.86[JPT][hapmap]
rs6703606	0.86[JPT][hapmap]
rs7548488	0.85[CEU][hapmap];0.86[JPT][hapmap]

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	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67090400-67155000	Weak transcription	Fetal Heart	heart
2	chr1:67100000-67144400	Weak transcription	Left Ventricle	heart
3	chr1:67106200-67143000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:67109600-67155000	Weak transcription	Brain Anterior Caudate	brain
5	chr1:67111400-67154800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:67114200-67156400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:67121200-67145400	Weak transcription	Brain Angular Gyrus	brain
8	chr1:67135200-67154200	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:67135600-67155400	Weak transcription	Brain Substantia Nigra	brain
10	chr1:67137400-67148000	Weak transcription	Fetal Brain Female	brain
11	chr1:67137600-67155000	Weak transcription	Brain Germinal Matrix	brain
12	chr1:67137800-67155000	Weak transcription	Fetal Brain Male	brain
13	chr1:67138000-67147200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:67138000-67154800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:67139200-67146400	Weak transcription	Fetal Lung	lung
16	chr1:67139600-67148000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:67139800-67145400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:67140400-67154800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:67140600-67143000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:67140600-67161200	Weak transcription	Esophagus	oesophagus
21	chr1:67140800-67147400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:67141200-67148800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:67141600-67144800	Enhancers	NH-A	brain
24	chr1:67141800-67142800	Enhancers	NHDF-Ad	bronchial
25	chr1:67141800-67143400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:67141800-67143600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:67141800-67144600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr1:67141800-67144600	Enhancers	HUVEC	blood vessel
29	chr1:67142000-67143200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:67142000-67143400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:67142200-67143200	Enhancers	Adipose Nuclei	Adipose
32	chr1:67142200-67143400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr1:67142200-67143400	Enhancers	HSMM	muscle
34	chr1:67142200-67145200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:67142400-67143000	Enhancers	HSMMtube	muscle
36	chr1:67142400-67143400	Enhancers	Fetal Kidney	kidney
37	chr1:67142400-67144000	Enhancers	Osteobl	bone
38	chr1:67142400-67145200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:67142400-67148000	Weak transcription	Aorta	Aorta
40	chr1:67142600-67144600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:67142600-67144800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:67142600-67147200	Weak transcription	NHLF	lung

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