Variant report

Variant	rs1883437
Chromosome Location	chr1:169884434-169884435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169884029..169885791-chr1:169886642..169888521,2	MCF-7	breast:
2	chr1:169883530..169886106-chr1:169901752..169904376,3	K562	blood:
3	chr1:169861017..169866202-chr1:169878725..169885490,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000000457	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10800485	0.84[AMR][1000 genomes]
rs10800486	0.81[AMR][1000 genomes]
rs2420514	0.87[AMR][1000 genomes]
rs2491087	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2750014	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3753308	0.82[AMR][1000 genomes]
rs6670818	0.88[AMR][1000 genomes]
rs7519364	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription 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 miRNA target site	37 gene(s)	inside rSNPs	diseases
2	esv1814601	chr1:169782006-169885186	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv1821503	chr1:169782006-169885186	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv1847722	chr1:169782006-169885186	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv2757760	chr1:169782006-169885186	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv2758976	chr1:169782006-169885186	Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv428268	chr1:169782006-169885186	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1845220	chr1:169782006-169933886	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1883437	C1orf112	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169872800-169887800	Weak transcription	Primary T cells from cord blood	blood
2	chr1:169875800-169889800	Weak transcription	Fetal Brain Female	brain
3	chr1:169876200-169903600	Weak transcription	Aorta	Aorta
4	chr1:169877600-169889800	Weak transcription	Lung	lung
5	chr1:169878400-169892200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:169878400-169895200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:169878400-169946200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:169878600-169895000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:169880200-169892800	Weak transcription	Fetal Heart	heart
10	chr1:169881000-169888000	Weak transcription	Fetal Brain Male	brain
11	chr1:169881400-169901000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:169882200-169892000	Weak transcription	Brain Germinal Matrix	brain
13	chr1:169882800-169886800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:169883000-169884600	Enhancers	HUVEC	blood vessel
15	chr1:169883000-169884600	Enhancers	NHEK	skin
16	chr1:169883000-169886800	Weak transcription	Fetal Stomach	stomach
17	chr1:169883000-169890600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:169883200-169885200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:169883800-169884600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:169883800-169884800	Flanking Active TSS	GM12878-XiMat	blood
21	chr1:169884000-169884600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:169884000-169884600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:169884000-169884600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:169884000-169884600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:169884000-169884600	Enhancers	Small Intestine	intestine
26	chr1:169884000-169884600	Enhancers	HMEC	breast
27	chr1:169884000-169884600	Flanking Active TSS	NH-A	brain
28	chr1:169884200-169884600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr1:169884200-169884600	Enhancers	Pancreas	Pancrea
30	chr1:169884200-169913000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:169884400-169884600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:169884400-169884600	Enhancers	Fetal Intestine Small	intestine
33	chr1:169884400-169884600	Enhancers	NHDF-Ad	bronchial
34	chr1:169884400-169884600	Enhancers	Osteobl	bone
35	chr1:169884400-169885200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:169884400-169888200	Weak transcription	Adipose Nuclei	Adipose
37	chr1:169884400-169889000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:169884400-169891000	Weak transcription	Esophagus	oesophagus

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