Variant report

Variant	rs6663750
Chromosome Location	chr1:57178308-57178309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10749709	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10889002	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10889003	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11206891	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12134054	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12138351	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12402675	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12405291	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12759063	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2051040	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2143749	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2746342	0.88[AMR][1000 genomes]
rs2746344	0.80[AMR][1000 genomes]
rs2796542	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4451572	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4561065	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4912408	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4912411	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6588645	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6588646	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6588647	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6676950	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6688242	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6688263	0.90[AMR][1000 genomes];0.92[EUR][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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv523032	chr1:57116909-57249558	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv520726	chr1:57143986-57205666	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57166200-57178800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:57170000-57181200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:57170200-57185000	Weak transcription	Liver	Liver
4	chr1:57173400-57181400	Weak transcription	Left Ventricle	heart
5	chr1:57173400-57184200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:57176200-57178400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:57176200-57184000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:57176800-57180800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:57177000-57178600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:57177000-57185000	Weak transcription	Fetal Heart	heart
11	chr1:57177200-57180800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:57177200-57180800	Weak transcription	NHEK	skin
13	chr1:57177200-57181000	Weak transcription	HSMM	muscle
14	chr1:57177200-57181200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:57177400-57180600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:57178000-57180800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:57178000-57180800	Weak transcription	NHDF-Ad	bronchial
18	chr1:57178000-57181200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:57178000-57181200	Weak transcription	NH-A	brain
20	chr1:57178200-57180800	Weak transcription	Osteobl	bone

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