Variant report

Variant	rs11206813
Chromosome Location	chr1:56917952-56917953
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10888973	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11206812	0.83[EUR][1000 genomes]
rs11206820	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11206821	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11206822	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11206826	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12128107	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12138516	0.83[EUR][1000 genomes]
rs12140958	0.94[EUR][1000 genomes]
rs12736058	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12739002	0.83[EUR][1000 genomes]
rs12755498	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12755655	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2780866	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2780869	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4128921	0.85[EUR][1000 genomes]
rs4628	0.82[GIH][hapmap];0.89[TSI][hapmap]
rs6672624	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6676745	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6682210	0.82[EUR][1000 genomes]
rs6682251	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6687845	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6690687	0.81[EUR][1000 genomes]
rs6698812	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7418187	0.84[EUR][1000 genomes]
rs7522127	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7539463	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs874381	0.81[ASN][1000 genomes]
rs9803856	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9803955	0.86[AMR][1000 genomes];1.00[EUR][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:74 , 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	chr1:56916200-56918000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:56916200-56918400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:56916200-56918400	Weak transcription	Psoas Muscle	Psoas
21	chr1:56916200-56918400	Weak transcription	Right Ventricle	heart
22	chr1:56916200-56919200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:56916200-56919600	Enhancers	HepG2	liver
24	chr1:56916200-56922200	Weak transcription	Lung	lung
25	chr1:56916400-56918200	Enhancers	Duodenum Mucosa	Duodenum
26	chr1:56916400-56921200	Weak transcription	Hela-S3	cervix
27	chr1:56916600-56919000	Enhancers	Colonic Mucosa	Colon
28	chr1:56916600-56920200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:56916800-56918200	Enhancers	Brain Anterior Caudate	brain
30	chr1:56916800-56918400	Enhancers	Brain Angular Gyrus	brain
31	chr1:56916800-56918600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr1:56916800-56918800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr1:56916800-56918800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr1:56916800-56919000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr1:56916800-56919000	Enhancers	Brain Hippocampus Middle	brain
36	chr1:56916800-56919200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr1:56916800-56919600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:56916800-56920600	Enhancers	H9 Cell Line	embryonic stem cell
39	chr1:56917000-56918000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:56917000-56918200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr1:56917000-56918200	Enhancers	A549	lung
42	chr1:56917000-56918400	Enhancers	Brain Cingulate Gyrus	brain
43	chr1:56917000-56918600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:56917000-56919000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr1:56917000-56919200	Enhancers	Adipose Nuclei	Adipose
46	chr1:56917000-56919600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:56917000-56919600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr1:56917000-56919600	Enhancers	Fetal Muscle Leg	muscle
49	chr1:56917000-56919600	Enhancers	Left Ventricle	heart
50	chr1:56917000-56919600	Enhancers	Right Atrium	heart

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