Variant report

Variant	rs72662283
Chromosome Location	chr1:56926659-56926660
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56912555..56915039-chr1:56924933..56927037,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11206807	1.00[ASN][1000 genomes]
rs11206808	1.00[ASN][1000 genomes]
rs12122628	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137498	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17406943	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2780865	1.00[ASN][1000 genomes]
rs35064883	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912172	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912275	1.00[ASN][1000 genomes]
rs4912305	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912307	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56027745	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72662266	1.00[ASN][1000 genomes]
rs72662267	1.00[ASN][1000 genomes]
rs72662289	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72662291	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72662298	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664306	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664313	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664316	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs914837	1.00[ASN][1000 genomes]
rs9437005	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56905400-56942600	Weak transcription	Gastric	stomach
2	chr1:56913800-56943200	Weak transcription	Aorta	Aorta
3	chr1:56915200-56935800	Weak transcription	NHLF	lung
4	chr1:56919200-56927200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:56919200-56930000	Weak transcription	NHDF-Ad	bronchial
6	chr1:56919800-56927000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:56919800-56934200	Weak transcription	Fetal Stomach	stomach
8	chr1:56922800-56929000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:56922800-56934200	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:56923600-56930000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:56924000-56927000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:56924000-56927000	Weak transcription	Lung	lung
13	chr1:56924000-56927200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:56924000-56934200	Weak transcription	Right Atrium	heart
15	chr1:56924200-56931800	Weak transcription	Left Ventricle	heart
16	chr1:56924200-56942800	Weak transcription	Right Ventricle	heart
17	chr1:56925000-56927000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:56926200-56927200	Enhancers	HepG2	liver
19	chr1:56926600-56927800	Enhancers	Liver	Liver
20	chr1:56926600-56927800	Enhancers	Fetal Intestine Small	intestine
21	chr1:56926600-56928200	Enhancers	Fetal Intestine Large	intestine
22	chr1:56926600-56928200	Enhancers	Fetal Thymus	thymus

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