Variant report

Variant	rs58303526
Chromosome Location	chr1:186897711-186897712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12720526	1.00[AMR][1000 genomes]
rs12720555	0.87[AFR][1000 genomes]
rs12720565	0.91[AFR][1000 genomes]
rs12720570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12720571	1.00[AMR][1000 genomes]
rs12720594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12720595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12720689	1.00[AMR][1000 genomes]
rs16826260	1.00[AMR][1000 genomes]
rs59707908	0.91[AFR][1000 genomes]
rs60393905	1.00[AMR][1000 genomes]
rs74135206	1.00[AMR][1000 genomes]
rs74137541	1.00[AFR][1000 genomes];1.00[AMR][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	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv548407	chr1:186875459-186951429	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186871400-186904000	Weak transcription	Hela-S3	cervix
2	chr1:186881800-186933600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:186881800-186951200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:186883800-186906800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:186890000-186924400	Weak transcription	Fetal Stomach	stomach
6	chr1:186890800-186928400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:186892800-186924000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr1:186895400-186899600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:186895400-186904600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:186895400-186937000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:186895600-186897800	Enhancers	Fetal Intestine Large	intestine
12	chr1:186895600-186899400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:186895600-186903800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:186895800-186899400	Weak transcription	NHDF-Ad	bronchial
15	chr1:186896000-186900800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:186896200-186902400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:186896400-186897800	Enhancers	NHEK	skin
18	chr1:186896400-186908600	Weak transcription	Adipose Nuclei	Adipose
19	chr1:186897000-186898400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:186897000-186898400	Enhancers	Colon Smooth Muscle	Colon
21	chr1:186897200-186909200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:186897400-186902600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:186897400-186902600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:186897400-186908600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:186897600-186898600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:186897600-186899000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:186897600-186917800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:186897600-186920800	Weak transcription	Fetal Intestine Small	intestine

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