Variant report

Variant	rs7919520
Chromosome Location	chr10:49783859-49783860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49776005..49778776-chr10:49783670..49785755,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10491035	1.00[CHB][hapmap]
rs10776622	1.00[CHB][hapmap]
rs10776625	1.00[CHB][hapmap]
rs1078261	1.00[JPT][hapmap]
rs10857600	1.00[CHB][hapmap]
rs10857601	1.00[CHB][hapmap]
rs10857603	1.00[CHB][hapmap]
rs11101383	0.88[ASN][1000 genomes]
rs11599380	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12766573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1373791	1.00[CHB][hapmap]
rs1373793	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1373795	1.00[CHB][hapmap]
rs1838571	1.00[CHD][hapmap]
rs1838572	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1867588	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2004665	1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4838419	1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4838620	1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7093632	1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7895981	0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap];0.88[ASN][1000 genomes]
rs935265	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs935266	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs935267	1.00[JPT][hapmap]
rs935268	1.00[JPT][hapmap]
rs935269	1.00[JPT][hapmap]
rs935270	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs935276	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv550815	chr10:49774633-49794481	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv550816	chr10:49782417-49794481	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7919520	MAPK8	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49773000-49787400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr10:49773200-49787800	Weak transcription	Brain Angular Gyrus	brain
3	chr10:49773400-49786200	Weak transcription	Brain Hippocampus Middle	brain
4	chr10:49773400-49786600	Strong transcription	HSMM	muscle
5	chr10:49776400-49786200	Weak transcription	Brain Substantia Nigra	brain
6	chr10:49777000-49787400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:49777400-49787400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr10:49779200-49784400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:49779400-49788000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr10:49780800-49787200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr10:49781200-49786000	Strong transcription	Osteobl	bone
12	chr10:49781200-49786200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:49781200-49786800	Strong transcription	NH-A	brain
14	chr10:49781200-49787000	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr10:49782200-49786200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:49782400-49784200	Strong transcription	NHLF	lung
17	chr10:49782600-49784400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr10:49782800-49786200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr10:49782800-49787400	Weak transcription	Fetal Thymus	thymus
20	chr10:49782800-49790200	Weak transcription	Aorta	Aorta
21	chr10:49783000-49784000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr10:49783000-49786800	Weak transcription	HSMMtube	muscle
23	chr10:49783000-49787200	Weak transcription	HMEC	breast
24	chr10:49783000-49787400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr10:49783000-49788400	Enhancers	Primary B cells from cord blood	blood
26	chr10:49783200-49787000	Enhancers	GM12878-XiMat	blood
27	chr10:49783200-49787800	Enhancers	Primary B cells from peripheral blood	blood
28	chr10:49783200-49787800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr10:49783400-49787400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr10:49783600-49784000	Enhancers	HUVEC	blood vessel
31	chr10:49783600-49784400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr10:49783600-49785800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr10:49783600-49786000	Weak transcription	Fetal Stomach	stomach
34	chr10:49783800-49784000	Enhancers	Adipose Nuclei	Adipose
35	chr10:49783800-49784200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr10:49783800-49784400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr10:49783800-49784400	Enhancers	Placenta	Placenta
38	chr10:49783800-49785800	Enhancers	Primary hematopoietic stem cells	blood
39	chr10:49783800-49786200	Weak transcription	NHDF-Ad	bronchial
40	chr10:49783800-49786400	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr10:49783800-49786400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr10:49783800-49787400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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