Variant report

Variant	rs10218995
Chromosome Location	chr10:50343022-50343023
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	chr10:50322283..50325786-chr10:50341748..50344745,3	K562	blood:

Variant related genes	Relation type
ENSG00000165633	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11100988	0.82[JPT][hapmap]
rs12198	1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[ASN][1000 genomes]
rs2002728	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2377953	0.83[ASN][1000 genomes]
rs2466744	0.97[ASN][1000 genomes]
rs2466748	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2466756	0.83[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2490837	0.82[AMR][1000 genomes]
rs2725180	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2725183	0.90[ASN][1000 genomes]
rs2725186	0.97[ASN][1000 genomes]
rs2725187	0.97[ASN][1000 genomes]
rs2725188	0.87[ASN][1000 genomes]
rs2725192	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2725193	0.83[ASN][1000 genomes]
rs2725200	0.83[JPT][hapmap]
rs2804933	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2804935	0.95[CHB][hapmap]
rs2804936	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2804938	1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[ASN][1000 genomes]
rs2804942	0.97[ASN][1000 genomes]
rs35307207	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35351786	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4319434	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4319435	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4344406	0.83[JPT][hapmap]
rs4417190	0.83[JPT][hapmap]
rs4558091	0.83[JPT][hapmap]
rs4620641	0.83[JPT][hapmap]
rs4838446	0.83[JPT][hapmap]
rs4838447	0.83[JPT][hapmap]
rs6537499	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7072243	0.83[JPT][hapmap]
rs7073645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7094217	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs73304793	0.82[ASN][1000 genomes]
rs9418839	0.83[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10218995	PPYR1	cis	parietal	SCAN
rs10218995	MSMB	cis	cerebellum	SCAN
rs10218995	C10orf72	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50324000-50343600	Weak transcription	Right Atrium	heart
2	chr10:50336000-50344200	Enhancers	Fetal Muscle Leg	muscle
3	chr10:50340400-50343800	Weak transcription	K562	blood
4	chr10:50340400-50347600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:50341800-50344200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr10:50341800-50344200	Enhancers	Fetal Stomach	stomach
7	chr10:50341800-50344200	Enhancers	Fetal Thymus	thymus
8	chr10:50342000-50344000	Enhancers	Right Ventricle	heart
9	chr10:50342200-50343200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr10:50342200-50343400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr10:50342200-50343600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:50342200-50344600	Enhancers	Primary B cells from cord blood	blood
13	chr10:50342200-50346200	Weak transcription	Left Ventricle	heart
14	chr10:50342200-50347000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:50342200-50349800	Enhancers	Fetal Lung	lung
16	chr10:50342400-50344000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr10:50342400-50344400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr10:50342400-50345400	Enhancers	Primary B cells from peripheral blood	blood
19	chr10:50342600-50344800	Enhancers	Adipose Nuclei	Adipose
20	chr10:50342800-50343200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:50342800-50343200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr10:50342800-50343600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr10:50342800-50343800	Weak transcription	Dnd41	blood
24	chr10:50343000-50343200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr10:50343000-50343400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr10:50343000-50344000	Enhancers	Ovary	ovary
27	chr10:50343000-50357800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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