Variant report

Variant	rs2698766
Chromosome Location	chr10:49568078-49568079
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	chr10:49565426..49568203-chr10:49568307..49571165,2	K562	blood:
2	chr10:49560371..49562620-chr10:49566484..49568463,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10218874	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10437448	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10508901	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs10508903	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1051507	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs1051508	0.90[EUR][1000 genomes]
rs1051509	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs10745266	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10745269	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10745270	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10776595	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10776596	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10776598	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776600	0.80[EUR][1000 genomes]
rs10857560	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10857561	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs10857562	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10857566	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11101290	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11101298	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11101306	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11101317	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11101318	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11101320	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11598434	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12411830	0.89[JPT][hapmap]
rs1345103	0.90[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1919708	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1919712	0.88[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs1919713	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs2263102	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2289805	0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2377351	0.81[CEU][hapmap];0.82[CHB][hapmap];0.84[EUR][1000 genomes]
rs2440861	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs2463959	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs2463960	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2590381	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2698761	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2698767	0.84[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs2921271	0.87[ASN][1000 genomes]
rs3789320	0.89[EUR][1000 genomes]
rs3827680	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3827681	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs3950310	0.87[ASN][1000 genomes]
rs4838590	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61840543	0.86[ASN][1000 genomes]
rs6537560	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6537561	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7072515	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7075976	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7076214	0.83[ASN][1000 genomes]
rs7086070	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7086275	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7101060	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs734371	1.00[CEU][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7904142	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7912697	0.84[ASN][1000 genomes]
rs7924070	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8428	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs867631	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs883604	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9284	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap]
rs9888128	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS 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
3	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	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
5	nsv6587	chr10:49526329-49571804	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2698766	MAPK8	cis	normal skin	skin_eQTL
rs2698766	MAPK8	Cis_1M	lymphoblastoid	RTeQTL
rs2698766	MAPK8	cis	Thyroid	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49543000-49576200	Weak transcription	Right Atrium	heart
2	chr10:49552600-49568800	Weak transcription	NHDF-Ad	bronchial
3	chr10:49559600-49572000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:49563600-49572000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:49565400-49568400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr10:49566000-49568600	Weak transcription	HUVEC	blood vessel
7	chr10:49566000-49571800	Weak transcription	Adipose Nuclei	Adipose
8	chr10:49566000-49573200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:49566400-49580000	Weak transcription	Colon Smooth Muscle	Colon
10	chr10:49566800-49571800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:49567600-49568200	Enhancers	Brain Anterior Caudate	brain
12	chr10:49568000-49568200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:49568000-49568200	Enhancers	K562	blood
14	chr10:49568000-49568600	Enhancers	Psoas Muscle	Psoas
15	chr10:49568000-49568600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr10:49568000-49568800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:49568000-49568800	Enhancers	Brain Angular Gyrus	brain
18	chr10:49568000-49568800	Enhancers	Ovary	ovary
19	chr10:49568000-49568800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr10:49568000-49568800	Enhancers	HSMMtube	muscle
21	chr10:49568000-49569000	Flanking Active TSS	Fetal Heart	heart
22	chr10:49568000-49569600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr10:49568000-49571200	Weak transcription	Liver	Liver

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