Variant report

Variant	rs303207
Chromosome Location	chr10:91229610-91229611
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	chr10:91227284..91229869-chr10:91241351..91244154,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10887965	0.84[CHD][hapmap]
rs12570001	0.81[CEU][hapmap]
rs12772414	0.92[CEU][hapmap]
rs160051	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs188570	0.84[CEU][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs215492	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs303163	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs303180	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs303182	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs303185	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs303186	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[GIH][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs303187	0.84[EUR][1000 genomes]
rs303200	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.84[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs303201	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs303203	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs303206	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs304467	0.86[CEU][hapmap]
rs7087280	0.88[CEU][hapmap];0.80[TSI][hapmap]
rs992759	0.81[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs303207	NUDT9P1	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91224000-91234600	Weak transcription	Right Ventricle	heart
2	chr10:91224200-91230400	Weak transcription	Left Ventricle	heart
3	chr10:91224200-91236000	Weak transcription	Lung	lung
4	chr10:91226200-91231600	Enhancers	Fetal Lung	lung
5	chr10:91226800-91237800	Weak transcription	Stomach Mucosa	stomach
6	chr10:91227000-91230200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr10:91227000-91230800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:91227000-91234600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr10:91227000-91235200	Weak transcription	NH-A	brain
10	chr10:91227000-91237800	Weak transcription	Osteobl	bone
11	chr10:91228200-91230000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr10:91228200-91230600	Enhancers	Hela-S3	cervix
13	chr10:91228400-91229800	Weak transcription	Pancreas	Pancrea
14	chr10:91228400-91230000	Weak transcription	Right Atrium	heart
15	chr10:91228400-91235600	Enhancers	Liver	Liver
16	chr10:91228600-91230200	Weak transcription	HepG2	liver
17	chr10:91228800-91229800	Enhancers	HUVEC	blood vessel
18	chr10:91228800-91231200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr10:91228800-91231200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr10:91228800-91231600	Enhancers	HMEC	breast
21	chr10:91229000-91230600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr10:91229000-91231000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr10:91229000-91231400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:91229000-91231600	Enhancers	NHEK	skin
25	chr10:91229200-91231200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:91229200-91231600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:91229200-91231800	Enhancers	NHDF-Ad	bronchial
28	chr10:91229400-91230800	Enhancers	NHLF	lung
29	chr10:91229400-91231200	Enhancers	Fetal Heart	heart
30	chr10:91229400-91231800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:91229400-91236400	Weak transcription	Fetal Intestine Small	intestine
32	chr10:91229600-91230000	Weak transcription	HSMM	muscle
33	chr10:91229600-91230600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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