Variant report

Variant	rs9850917
Chromosome Location	chr3:49286983-49286984
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	chr3:49282535..49284630-chr3:49284779..49287492,2	K562	blood:
2	chr3:49285840..49288183-chr3:49292135..49293645,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10049462	1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10154895	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10865954	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11130184	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11552724	1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs11706052	0.81[EUR][1000 genomes]
rs11706189	1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11710247	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11713297	1.00[JPT][hapmap];0.84[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11715581	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11718982	0.86[EUR][1000 genomes]
rs11719220	1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11720460	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11920251	1.00[JPT][hapmap]
rs11920267	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12490393	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12493001	1.00[JPT][hapmap]
rs12493284	0.89[ASN][1000 genomes]
rs12629637	0.92[ASN][1000 genomes]
rs12629759	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12631989	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12637576	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12715434	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13064780	0.81[ASN][1000 genomes]
rs13068038	1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13072554	0.80[EUR][1000 genomes]
rs13077498	1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13096406	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1865741	1.00[JPT][hapmap]
rs2117938	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2304442	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3212	1.00[JPT][hapmap]
rs34326553	0.87[EUR][1000 genomes]
rs34343820	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34566463	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34580506	1.00[JPT][hapmap]
rs34784192	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34915642	1.00[JPT][hapmap]
rs35060561	1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35108630	0.81[EUR][1000 genomes]
rs35174559	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs35185152	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35218722	0.81[ASN][1000 genomes]
rs35283189	1.00[JPT][hapmap]
rs35673421	1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs3774799	0.81[ASN][1000 genomes]
rs4279134	1.00[JPT][hapmap]
rs4410472	0.86[ASN][1000 genomes]
rs4513485	1.00[JPT][hapmap]
rs4521268	1.00[JPT][hapmap]
rs4955410	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4955418	1.00[JPT][hapmap]
rs4955419	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4955420	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4955432	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5030795	1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs55921200	0.81[EUR][1000 genomes]
rs56306491	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66991555	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67286839	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6779394	1.00[JPT][hapmap]
rs67831908	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6784111	1.00[JPT][hapmap]
rs6795772	1.00[JPT][hapmap]
rs71324939	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73084135	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7374375	0.82[ASN][1000 genomes]
rs7614738	0.88[ASN][1000 genomes]
rs7626445	1.00[JPT][hapmap]
rs7638154	0.92[ASN][1000 genomes]
rs7652746	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9311439	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9814987	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9818758	1.00[JPT][hapmap]
rs9826525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9828310	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9835439	0.89[EUR][1000 genomes]
rs9837237	1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9837625	1.00[JPT][hapmap];0.84[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9846123	1.00[JPT][hapmap]
rs9847839	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];0.94[ASN][1000 genomes]
rs9855123	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9862483	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9863142	1.00[JPT][hapmap]
rs9864406	1.00[JPT][hapmap]
rs9870030	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9873994	1.00[JPT][hapmap]
rs9874474	0.92[ASN][1000 genomes]
rs9880088	1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9880309	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9883409	0.92[ASN][1000 genomes]
rs9990153	1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008750	chr3:49208815-49362401	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs9850917	WDR6	cis	Skin Sun Exposed Lower leg	GTEx
rs9850917	WDR6	cis	Whole Blood	GTEx
rs9850917	WDR6	cis	lung	GTEx
rs9850917	WDR6	cis	Artery Tibial	GTEx
rs9850917	WDR6	cis	Adipose Subcutaneous	GTEx
rs9850917	WDR6	cis	Esophagus Mucosa	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49266200-49292600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:49276400-49293400	Weak transcription	NHLF	lung
3	chr3:49276400-49306400	Weak transcription	Spleen	Spleen
4	chr3:49276600-49304000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr3:49277400-49292600	Weak transcription	Fetal Intestine Large	intestine
6	chr3:49282600-49294800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr3:49282600-49299000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:49282600-49303200	Weak transcription	Left Ventricle	heart
9	chr3:49283400-49287400	Weak transcription	Osteobl	bone
10	chr3:49283400-49293200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:49284200-49287400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr3:49285000-49287200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr3:49285200-49287200	Enhancers	Adipose Nuclei	Adipose
14	chr3:49285200-49292600	Weak transcription	Fetal Muscle Leg	muscle
15	chr3:49285200-49292600	Weak transcription	Fetal Stomach	stomach
16	chr3:49285200-49293200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:49285800-49287200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:49286200-49288200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:49286200-49288200	Enhancers	Rectal Smooth Muscle	rectum
20	chr3:49286400-49292600	Weak transcription	Colon Smooth Muscle	Colon
21	chr3:49286400-49304000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:49286400-49313600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:49286600-49287600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:49286600-49292800	Weak transcription	NHDF-Ad	bronchial
25	chr3:49286600-49293200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:49286600-49293200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr3:49286600-49293600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:49286600-49293600	Weak transcription	Right Ventricle	heart
29	chr3:49286600-49293800	Weak transcription	Ovary	ovary
30	chr3:49286600-49294000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr3:49286800-49287200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:49286800-49287400	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr3:49286800-49287800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr3:49286800-49292200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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