Variant report

Variant	rs73079033
Chromosome Location	chr3:49979174-49979175
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:49965505..49970003-chr3:49974970..49980028,17	K562	blood:
2	chr3:49976300..49979550-chr3:50125389..50128777,3	K562	blood:
3	chr3:49965505..49970003-chr3:49975811..49980300,11	K562	blood:
4	chr3:49823173..49825666-chr3:49976602..49979269,2	MCF-7	breast:
5	chr3:49965568..49971141-chr3:49975411..49979217,7	MCF-7	breast:
6	chr3:49978223..49979811-chr3:50003793..50005372,2	K562	blood:

Variant related genes	Relation type
ENSG00000164077	Chromatin interaction
ENSG00000003756	Chromatin interaction
ENSG00000176095	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11711814	1.00[EUR][1000 genomes]
rs11716961	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11717829	0.87[EUR][1000 genomes]
rs4688759	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv834689	chr3:49962930-50085119	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv965334	chr3:49967342-50000012	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
5	nsv1012903	chr3:49978765-50071878	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs73079033	WDR6	cis	Adipose Subcutaneous	GTEx
rs73079033	WDR6	cis	Esophagus Mucosa	GTEx
rs73079033	WDR6	cis	Skin Sun Exposed Lower leg	GTEx
rs73079033	WDR6	cis	Whole Blood	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49977400-49979200	Active TSS	GM12878-XiMat	blood
2	chr3:49977800-49979400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:49978600-49979200	Weak transcription	Ovary	ovary
4	chr3:49978600-49979400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:49978600-49979400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr3:49978600-49980200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr3:49978600-49980600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr3:49978600-49980600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:49978600-49981200	Enhancers	Primary B cells from peripheral blood	blood
10	chr3:49978600-49981800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr3:49978600-49983000	Weak transcription	Lung	lung
12	chr3:49978600-49986400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:49978600-49986800	Weak transcription	Left Ventricle	heart
14	chr3:49978600-49988800	Weak transcription	Aorta	Aorta
15	chr3:49978800-49979200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:49978800-49979200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:49978800-49979200	Weak transcription	Psoas Muscle	Psoas
18	chr3:49978800-49979400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr3:49978800-49979400	Enhancers	Brain Cingulate Gyrus	brain
20	chr3:49978800-49979400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr3:49978800-49979400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:49978800-49979400	Enhancers	Fetal Brain Male	brain
23	chr3:49978800-49979400	Genic enhancers	Fetal Intestine Small	intestine
24	chr3:49978800-49979400	Enhancers	Placenta	Placenta
25	chr3:49978800-49979400	Enhancers	Fetal Thymus	thymus
26	chr3:49978800-49979400	Enhancers	Thymus	Thymus
27	chr3:49978800-49979600	Enhancers	Primary hematopoietic stem cells	blood
28	chr3:49978800-49979600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr3:49978800-49979800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr3:49978800-49980000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr3:49978800-49980000	Enhancers	Primary B cells from cord blood	blood
32	chr3:49978800-49980000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:49978800-49980200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:49978800-49980400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr3:49978800-49980400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:49978800-49980600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr3:49978800-49980600	Enhancers	Adipose Nuclei	Adipose
38	chr3:49978800-49981200	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr3:49978800-49981200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr3:49978800-49982800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr3:49978800-49983200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:49978800-49983400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:49978800-49985400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr3:49978800-49986800	Weak transcription	Stomach Mucosa	stomach
45	chr3:49978800-49987000	Weak transcription	Small Intestine	intestine
46	chr3:49978800-49987400	Weak transcription	Brain Anterior Caudate	brain
47	chr3:49978800-49987400	Weak transcription	K562	blood
48	chr3:49978800-49987600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr3:49978800-49987600	Weak transcription	Brain Substantia Nigra	brain
50	chr3:49978800-49987600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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