Variant report

Variant	rs11206814
Chromosome Location	chr1:56918048-56918049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10789023	0.91[EUR][1000 genomes]
rs10789024	0.91[EUR][1000 genomes]
rs10888975	0.84[EUR][1000 genomes]
rs11206810	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11206816	0.96[EUR][1000 genomes]
rs11206817	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11206818	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11589246	0.84[EUR][1000 genomes]
rs1930761	0.84[EUR][1000 genomes]
rs61772577	0.81[AFR][1000 genomes]
rs61772590	0.86[EUR][1000 genomes]
rs7525717	0.85[AMR][1000 genomes];0.96[EUR][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
rs11206814	ACOT11	cis	cerebellum	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56905400-56942600	Weak transcription	Gastric	stomach
2	chr1:56912800-56918600	Weak transcription	Fetal Heart	heart
3	chr1:56912800-56922400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:56912800-56923400	Weak transcription	Spleen	Spleen
5	chr1:56913800-56943200	Weak transcription	Aorta	Aorta
6	chr1:56914200-56919800	Enhancers	Fetal Intestine Small	intestine
7	chr1:56914400-56919600	Enhancers	Fetal Intestine Large	intestine
8	chr1:56914600-56919800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:56915000-56922400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:56915200-56922400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:56915200-56935800	Weak transcription	NHLF	lung
12	chr1:56915400-56918800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:56915600-56919000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr1:56915800-56918400	Enhancers	Brain Substantia Nigra	brain
15	chr1:56915800-56919800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:56916000-56918600	Enhancers	Stomach Mucosa	stomach
17	chr1:56916000-56919600	Enhancers	Stomach Smooth Muscle	stomach
18	chr1:56916200-56918400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:56916200-56918400	Weak transcription	Psoas Muscle	Psoas
20	chr1:56916200-56918400	Weak transcription	Right Ventricle	heart
21	chr1:56916200-56919200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:56916200-56919600	Enhancers	HepG2	liver
23	chr1:56916200-56922200	Weak transcription	Lung	lung
24	chr1:56916400-56918200	Enhancers	Duodenum Mucosa	Duodenum
25	chr1:56916400-56921200	Weak transcription	Hela-S3	cervix
26	chr1:56916600-56919000	Enhancers	Colonic Mucosa	Colon
27	chr1:56916600-56920200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:56916800-56918200	Enhancers	Brain Anterior Caudate	brain
29	chr1:56916800-56918400	Enhancers	Brain Angular Gyrus	brain
30	chr1:56916800-56918600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr1:56916800-56918800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr1:56916800-56918800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr1:56916800-56919000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:56916800-56919000	Enhancers	Brain Hippocampus Middle	brain
35	chr1:56916800-56919200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr1:56916800-56919600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:56916800-56920600	Enhancers	H9 Cell Line	embryonic stem cell
38	chr1:56917000-56918200	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr1:56917000-56918200	Enhancers	A549	lung
40	chr1:56917000-56918400	Enhancers	Brain Cingulate Gyrus	brain
41	chr1:56917000-56918600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:56917000-56919000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr1:56917000-56919200	Enhancers	Adipose Nuclei	Adipose
44	chr1:56917000-56919600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:56917000-56919600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr1:56917000-56919600	Enhancers	Fetal Muscle Leg	muscle
47	chr1:56917000-56919600	Enhancers	Left Ventricle	heart
48	chr1:56917000-56919600	Enhancers	Right Atrium	heart
49	chr1:56917200-56918400	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr1:56917200-56918600	Enhancers	Fetal Thymus	thymus

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