Variant report

Variant	rs11206816
Chromosome Location	chr1:56932035-56932036
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10789023	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10789024	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10888975	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11206810	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11206814	0.96[EUR][1000 genomes]
rs11206817	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206818	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206823	0.97[ASN][1000 genomes]
rs11206825	0.94[ASN][1000 genomes]
rs11589246	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12138516	0.85[ASN][1000 genomes]
rs12739002	0.86[ASN][1000 genomes]
rs1930761	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4128921	0.86[ASN][1000 genomes]
rs4244013	0.83[ASN][1000 genomes]
rs4912291	0.97[ASN][1000 genomes]
rs61772590	0.86[EUR][1000 genomes]
rs6682210	0.85[ASN][1000 genomes]
rs6684123	0.82[ASN][1000 genomes]
rs6690687	0.85[ASN][1000 genomes]
rs7418187	0.86[ASN][1000 genomes]
rs7525717	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7528118	0.82[TSI][hapmap]
rs8016	0.97[TSI][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11206816	ACOT11	cis	cerebellum	SCAN

Chromatin state (count:24 , 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	chr1:56919800-56934200	Weak transcription	Fetal Stomach	stomach
5	chr1:56922800-56934200	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:56924000-56934200	Weak transcription	Right Atrium	heart
7	chr1:56924200-56942800	Weak transcription	Right Ventricle	heart
8	chr1:56926800-56939000	Weak transcription	Esophagus	oesophagus
9	chr1:56929200-56935800	Weak transcription	HepG2	liver
10	chr1:56929400-56942400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:56930400-56934200	Weak transcription	NHDF-Ad	bronchial
12	chr1:56930400-56935600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:56931200-56935800	Weak transcription	Fetal Intestine Small	intestine
14	chr1:56931400-56933000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:56931400-56933200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr1:56931400-56934000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:56931400-56936000	Weak transcription	Stomach Mucosa	stomach
18	chr1:56931400-56939200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:56931600-56932400	Enhancers	Spleen	Spleen
20	chr1:56931600-56933400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr1:56931800-56932600	Enhancers	Liver	Liver
22	chr1:56931800-56932800	Enhancers	Left Ventricle	heart
23	chr1:56931800-56936400	Weak transcription	Fetal Kidney	kidney
24	chr1:56932000-56943000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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