Variant report

Variant	rs61217794
Chromosome Location	chr1:76570415-76570416
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76563429..76565224-chr1:76569257..76571060,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2952434	1.00[EUR][1000 genomes]
rs3011988	1.00[EUR][1000 genomes]
rs419725	1.00[EUR][1000 genomes]
rs56077995	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56160304	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56309855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56352502	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59073776	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60246438	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs664998	1.00[EUR][1000 genomes]
rs6691913	1.00[AMR][1000 genomes]
rs6702596	1.00[AMR][1000 genomes]
rs72990771	1.00[AMR][1000 genomes]
rs72992611	1.00[AMR][1000 genomes]
rs74090098	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74092509	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7515337	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	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:21 , 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	chr1:76548400-76576200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:76557400-76605800	Weak transcription	Fetal Intestine Small	intestine
4	chr1:76557600-76588800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:76560000-76571000	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:76560200-76573400	Weak transcription	Brain Angular Gyrus	brain
7	chr1:76561800-76572000	Weak transcription	Brain Anterior Caudate	brain
8	chr1:76562200-76571400	Weak transcription	Fetal Kidney	kidney
9	chr1:76568600-76572400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:76568800-76571200	Enhancers	Fetal Lung	lung
11	chr1:76569000-76570800	Weak transcription	Primary T cells from cord blood	blood
12	chr1:76569400-76572800	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:76569400-76573200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:76569400-76575400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:76569600-76570800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:76569600-76572000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:76569600-76572200	Weak transcription	Brain Substantia Nigra	brain
18	chr1:76570000-76573000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr1:76570000-76573600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:76570200-76573800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:76570400-76570800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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