Variant report

Variant	rs4319434
Chromosome Location	chr10:50345140-50345141
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	chr10:50343053..50345152-chr10:50372726..50375346,2	K562	blood:

Variant related genes	Relation type
ENSG00000204161	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10218995	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11100988	0.82[JPT][hapmap]
rs12198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13088	0.80[MEX][hapmap]
rs2002728	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2377953	0.82[ASN][1000 genomes]
rs2466744	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2466748	0.96[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2466756	0.81[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2725180	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.91[ASN][1000 genomes]
rs2725183	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2725186	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2725187	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2725188	0.88[ASN][1000 genomes]
rs2725192	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2725193	0.82[ASN][1000 genomes]
rs2725200	0.83[JPT][hapmap]
rs2804933	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2804935	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[EUR][1000 genomes]
rs2804936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2804938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2804939	0.81[CHD][hapmap]
rs2804942	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35307207	0.84[ASN][1000 genomes]
rs35351786	0.84[ASN][1000 genomes]
rs4317904	0.87[ASW][hapmap];0.87[GIH][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4319435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4344406	0.83[JPT][hapmap]
rs4417190	0.83[JPT][hapmap]
rs4421674	0.82[GIH][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4558091	0.83[JPT][hapmap];0.80[MEX][hapmap]
rs4620641	0.83[JPT][hapmap]
rs4838446	0.83[JPT][hapmap]
rs4838447	0.83[JPT][hapmap]
rs6537499	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7072243	0.83[JPT][hapmap]
rs7073645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7094217	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73304793	0.82[ASN][1000 genomes]
rs9418839	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4319434	MAPK8	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50340400-50347600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:50342200-50346200	Weak transcription	Left Ventricle	heart
3	chr10:50342200-50347000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:50342200-50349800	Enhancers	Fetal Lung	lung
5	chr10:50342400-50345400	Enhancers	Primary B cells from peripheral blood	blood
6	chr10:50343000-50357800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr10:50343800-50345800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr10:50343800-50346800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr10:50344000-50346400	Weak transcription	Ovary	ovary
10	chr10:50344000-50347600	Weak transcription	Right Ventricle	heart
11	chr10:50344200-50345800	Weak transcription	Fetal Stomach	stomach
12	chr10:50344200-50346200	Weak transcription	NH-A	brain
13	chr10:50344200-50346200	Weak transcription	Osteobl	bone
14	chr10:50344200-50346600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr10:50344200-50346800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr10:50344200-50346800	Weak transcription	Right Atrium	heart
17	chr10:50344200-50347600	Weak transcription	Esophagus	oesophagus
18	chr10:50344200-50352200	Weak transcription	Fetal Thymus	thymus
19	chr10:50344400-50346200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:50344400-50346200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:50344400-50346400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr10:50344400-50347400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr10:50344600-50345800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr10:50344800-50346200	Weak transcription	Adipose Nuclei	Adipose
25	chr10:50345000-50345400	Weak transcription	Fetal Muscle Leg	muscle

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