Variant report

Variant	rs74135324
Chromosome Location	chr1:185758153-185758154
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56156323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57073916	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60546696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133675	1.00[AMR][1000 genomes]
rs74133676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74135330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74135343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74135345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74135348	0.83[AMR][1000 genomes]
rs74135349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74135355	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74135357	0.91[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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185737800-185758800	Weak transcription	Fetal Lung	lung
2	chr1:185753600-185759600	Weak transcription	Pancreas	Pancrea
3	chr1:185755200-185758800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:185755200-185759400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:185755200-185760000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:185755400-185766600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:185756400-185761600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:185756600-185758400	Weak transcription	Left Ventricle	heart
9	chr1:185756800-185758200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:185756800-185758400	Weak transcription	Aorta	Aorta
11	chr1:185756800-185758400	Weak transcription	Fetal Heart	heart
12	chr1:185756800-185758800	Weak transcription	NHDF-Ad	bronchial
13	chr1:185757400-185758400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:185757600-185760000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:185757600-185760200	Enhancers	Fetal Intestine Large	intestine
16	chr1:185757800-185758400	Weak transcription	Right Atrium	heart
17	chr1:185757800-185758800	Weak transcription	Adipose Nuclei	Adipose
18	chr1:185757800-185760000	Enhancers	Osteobl	bone
19	chr1:185758000-185758400	Weak transcription	Fetal Kidney	kidney
20	chr1:185758000-185759200	Weak transcription	HUVEC	blood vessel
21	chr1:185758000-185760000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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