Variant report

Variant	rs2780292
Chromosome Location	chr1:56928691-56928692
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:26)

rs_ID	r²[population]
rs10888971	0.86[ASN][1000 genomes]
rs10888972	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11206815	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1261410	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1815487	0.82[ASN][1000 genomes]
rs1889145	0.90[EUR][1000 genomes]
rs1964940	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2184104	0.89[EUR][1000 genomes]
rs4912286	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6421497	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6588633	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6588634	0.82[ASN][1000 genomes]
rs6588635	0.82[ASN][1000 genomes]
rs6670090	0.86[ASN][1000 genomes]
rs6684929	0.90[EUR][1000 genomes]
rs6687307	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6693179	0.90[EUR][1000 genomes]
rs6698602	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7365290	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7365293	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7368386	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7513178	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7513411	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7525346	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7527084	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7535319	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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:16 , 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	chr1:56919200-56930000	Weak transcription	NHDF-Ad	bronchial
5	chr1:56919800-56934200	Weak transcription	Fetal Stomach	stomach
6	chr1:56922800-56929000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:56922800-56934200	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:56923600-56930000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:56924000-56934200	Weak transcription	Right Atrium	heart
10	chr1:56924200-56931800	Weak transcription	Left Ventricle	heart
11	chr1:56924200-56942800	Weak transcription	Right Ventricle	heart
12	chr1:56926800-56939000	Weak transcription	Esophagus	oesophagus
13	chr1:56927800-56929800	Weak transcription	Stomach Mucosa	stomach
14	chr1:56927800-56930800	Weak transcription	Fetal Intestine Small	intestine
15	chr1:56927800-56931800	Weak transcription	Liver	Liver
16	chr1:56928200-56929000	Weak transcription	HepG2	liver

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