Variant report

Variant	rs2049756
Chromosome Location	chr3:119193642-119193643
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119181220..119185390-chr3:119190378..119193969,7	MCF-7	breast:
2	chr3:119182314..119183843-chr3:119192705..119195422,2	MCF-7	breast:
3	chr3:119192719..119194689-chr3:119216771..119218828,2	MCF-7	breast:
4	chr3:119187316..119189063-chr3:119192392..119193992,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113845	Chromatin interaction
ENSG00000163389	Chromatin interaction
ENSG00000176142	Chromatin interaction
ENSG00000272662	Chromatin interaction

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

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

rs_ID	r²[population]
rs11713200	0.86[EUR][1000 genomes]
rs2178318	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2282171	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3195852	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35078244	0.86[EUR][1000 genomes]
rs3772136	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3932422	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4687859	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4688003	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6438532	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6763561	0.87[EUR][1000 genomes]
rs6797866	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7613562	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7629750	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9713715	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9846088	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9851177	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9855347	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9872589	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]

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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2049756	POGLUT1	cis	Artery Tibial	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119188400-119216200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:119188400-119216800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:119188600-119198000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:119188600-119216200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:119188800-119196200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:119188800-119216200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:119189000-119196000	Weak transcription	Small Intestine	intestine
8	chr3:119189000-119196600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr3:119189000-119196800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:119189000-119197000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:119189000-119198000	Weak transcription	HSMM	muscle
12	chr3:119189000-119198200	Weak transcription	NH-A	brain
13	chr3:119189000-119199200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:119189000-119204400	Weak transcription	NHDF-Ad	bronchial
15	chr3:119189000-119216200	Weak transcription	Stomach Mucosa	stomach
16	chr3:119189000-119216200	Weak transcription	HUVEC	blood vessel
17	chr3:119189000-119216600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:119189200-119196000	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:119189200-119199000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:119189200-119199600	Weak transcription	HMEC	breast
21	chr3:119189200-119203000	Weak transcription	Fetal Kidney	kidney
22	chr3:119189400-119201800	Strong transcription	Fetal Stomach	stomach
23	chr3:119189600-119205400	Weak transcription	Hela-S3	cervix
24	chr3:119189600-119209200	Strong transcription	Primary B cells from cord blood	blood
25	chr3:119189600-119211800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr3:119189600-119211800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr3:119189800-119194200	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr3:119189800-119194400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:119189800-119198800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:119189800-119199000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:119189800-119200800	Strong transcription	Fetal Thymus	thymus
32	chr3:119189800-119210000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr3:119189800-119211400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr3:119189800-119212200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr3:119189800-119216000	Weak transcription	Fetal Heart	heart
36	chr3:119190000-119194000	Strong transcription	Adipose Nuclei	Adipose
37	chr3:119190000-119194400	Strong transcription	Liver	Liver
38	chr3:119190000-119195000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:119190000-119196000	Weak transcription	Colonic Mucosa	Colon
40	chr3:119190000-119201200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr3:119190000-119201800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:119190000-119202000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:119190000-119211800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr3:119190000-119212200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:119190000-119212200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:119190200-119200200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr3:119190400-119199200	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr3:119190400-119212200	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr3:119190600-119193800	Strong transcription	Fetal Intestine Large	intestine
50	chr3:119190600-119194000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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