Variant report

Variant	rs58393607
Chromosome Location	chr1:211575627-211575628
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]
rs17267540	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2230779	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41303275	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41307648	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56114647	0.94[AFR][1000 genomes]
rs58281296	0.97[AFR][1000 genomes]
rs58282668	0.83[AFR][1000 genomes]
rs58317460	0.85[AFR][1000 genomes]
rs6684161	0.84[AFR][1000 genomes]
rs74137663	0.92[AFR][1000 genomes]
rs74138736	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74138737	0.87[AFR][1000 genomes]
rs9661927	0.84[AFR][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	esv2762141	chr1:211538685-211603843	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	esv1824154	chr1:211565640-211614280	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211556800-211585800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:211556800-211589800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:211557000-211576600	Weak transcription	Left Ventricle	heart
4	chr1:211557000-211580600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:211557000-211581000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:211557000-211581800	Weak transcription	Fetal Kidney	kidney
7	chr1:211557400-211576000	Weak transcription	Fetal Intestine Small	intestine
8	chr1:211557600-211576200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:211566800-211576800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:211567000-211581600	Weak transcription	Gastric	stomach
11	chr1:211569000-211576600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:211570800-211581000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:211573800-211589600	Weak transcription	Ovary	ovary
14	chr1:211574000-211585000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:211574000-211589600	Weak transcription	Liver	Liver
16	chr1:211574400-211576000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:211574800-211576200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:211575000-211578000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:211575400-211582000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:211575400-211588800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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