Variant report

Variant	rs67831908
Chromosome Location	chr3:49313513-49313514
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:49313215-49313655	GM12878	blood:	n/a	n/a
2	MTA3	chr3:49313432-49315520	GM12878	blood:	n/a	n/a
3	STAT5A	chr3:49313506-49314877	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49307035..49308878-chr3:49311378..49313524,2	K562	blood:

Variant related genes	Relation type
C3orf62	TF binding region
ENSG00000199546	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10049462	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10154895	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11552724	0.86[EUR][1000 genomes]
rs11706189	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11710247	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11713297	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11718982	0.81[EUR][1000 genomes]
rs11719220	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11720460	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12493284	0.83[ASN][1000 genomes]
rs12629637	0.97[ASN][1000 genomes]
rs12715434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12715435	0.81[AFR][1000 genomes]
rs13068038	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13077498	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13096406	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2304442	0.86[ASN][1000 genomes]
rs34326553	0.82[EUR][1000 genomes]
rs34343820	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34566463	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34784192	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35060561	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35174559	0.92[ASN][1000 genomes]
rs35185152	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35673421	0.84[EUR][1000 genomes]
rs4410472	0.91[ASN][1000 genomes]
rs5030795	0.86[EUR][1000 genomes]
rs56306491	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66991555	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67286839	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71324939	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73084135	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7614738	0.83[ASN][1000 genomes]
rs7638154	0.87[ASN][1000 genomes]
rs9311439	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9814987	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9826525	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9828310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9835439	0.87[EUR][1000 genomes]
rs9837237	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9837625	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9844757	0.85[EUR][1000 genomes]
rs9847839	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9850917	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9855123	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9862483	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9870030	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9874474	0.86[ASN][1000 genomes]
rs9880088	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9880309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9883409	0.86[ASN][1000 genomes]
rs9990153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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	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
2	nsv963481	chr3:49304260-49325571	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs67831908	WDR6	cis	Adipose Subcutaneous	GTEx
rs67831908	WDR6	cis	Skin Sun Exposed Lower leg	GTEx
rs67831908	WDR6	cis	Esophagus Mucosa	GTEx
rs67831908	WDR6	cis	Artery Tibial	GTEx
rs67831908	WDR6	cis	Whole Blood	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49286400-49313600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr3:49299000-49313600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr3:49301800-49315600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:49303600-49315600	Weak transcription	HepG2	liver
5	chr3:49304400-49313600	Weak transcription	Fetal Brain Male	brain
6	chr3:49304800-49313600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:49304800-49313600	Weak transcription	Liver	Liver
8	chr3:49304800-49314000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:49305000-49313600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:49305000-49313600	Weak transcription	Brain Substantia Nigra	brain
11	chr3:49305400-49313600	Weak transcription	NHEK	skin
12	chr3:49305800-49313600	Weak transcription	Colonic Mucosa	Colon
13	chr3:49307200-49313600	Weak transcription	Psoas Muscle	Psoas
14	chr3:49307200-49313800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr3:49307200-49313800	Weak transcription	A549	lung
16	chr3:49307200-49314000	Weak transcription	Esophagus	oesophagus
17	chr3:49307200-49314200	Weak transcription	Hela-S3	cervix
18	chr3:49307400-49313600	Weak transcription	Aorta	Aorta
19	chr3:49307400-49313600	Weak transcription	Fetal Brain Female	brain
20	chr3:49307400-49314000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:49307400-49314000	Weak transcription	Gastric	stomach
22	chr3:49307400-49314600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:49307400-49314800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr3:49307600-49314000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:49308000-49313600	Weak transcription	NH-A	brain
26	chr3:49308800-49313600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:49309000-49314000	Weak transcription	Lung	lung
28	chr3:49309200-49313600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:49309200-49313600	Weak transcription	HMEC	breast
30	chr3:49309200-49316000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr3:49309400-49313600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr3:49309400-49313600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr3:49309600-49313600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr3:49310800-49313600	Weak transcription	Spleen	Spleen
35	chr3:49310800-49314000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:49311000-49313600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:49311000-49313600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr3:49311000-49313600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr3:49311600-49313600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:49311800-49315200	Weak transcription	K562	blood
41	chr3:49312600-49313600	Enhancers	Fetal Muscle Leg	muscle
42	chr3:49312600-49313600	Enhancers	Fetal Stomach	stomach
43	chr3:49312600-49313600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr3:49312600-49313800	Enhancers	Fetal Thymus	thymus
45	chr3:49312600-49313800	Enhancers	Ovary	ovary
46	chr3:49312600-49314000	Enhancers	Primary T cells fromperipheralblood	blood
47	chr3:49312600-49375800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:49312800-49313800	Enhancers	Fetal Muscle Trunk	muscle
49	chr3:49313200-49313600	Enhancers	Primary B cells from cord blood	blood
50	chr3:49313200-49313600	Enhancers	Primary T helper cells PMA-I stimulated	--

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