Variant report

Variant	rs291066
Chromosome Location	chr1:76557403-76557404
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]
rs1631357	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs188333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs289690	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs289698	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs289699	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs447383	0.83[ASN][1000 genomes]
rs502421	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs551954	0.83[ASN][1000 genomes]
rs613909	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61558985	0.83[ASN][1000 genomes]
rs622212	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs643289	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs817822	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][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	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv871862	chr1:76525783-76598209	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76542800-76572000	Weak transcription	Primary B cells from cord blood	blood
2	chr1:76545600-76558200	Weak transcription	Left Ventricle	heart
3	chr1:76548000-76561800	Weak transcription	Fetal Brain Female	brain
4	chr1:76548400-76576200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:76553800-76559000	Weak transcription	Fetal Kidney	kidney
6	chr1:76554000-76558600	Weak transcription	Fetal Lung	lung
7	chr1:76556000-76557800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:76556200-76557600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr1:76556200-76559800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:76556400-76557600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:76556400-76557800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:76556600-76557600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:76556600-76557600	Enhancers	Brain Anterior Caudate	brain
14	chr1:76556800-76557600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:76556800-76558800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:76556800-76561400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:76557000-76558400	Weak transcription	Brain Substantia Nigra	brain
18	chr1:76557000-76561400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:76557400-76557600	Enhancers	Brain Hippocampus Middle	brain
20	chr1:76557400-76561600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:76557400-76561600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:76557400-76605800	Weak transcription	Fetal Intestine Small	intestine

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