Variant report

Variant	rs57966457
Chromosome Location	chr1:56993191-56993192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10157636	0.94[ASN][1000 genomes]
rs11206839	0.89[AFR][1000 genomes]
rs11206840	0.89[AFR][1000 genomes]
rs11206841	0.88[AFR][1000 genomes]
rs11583161	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11590570	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12081589	0.94[ASN][1000 genomes]
rs12084507	0.94[ASN][1000 genomes]
rs58289463	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60314060	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690245	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72664330	0.94[ASN][1000 genomes]
rs7512545	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7519268	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7549894	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7554557	0.85[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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56967000-57002000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:56977800-56999200	Weak transcription	A549	lung
3	chr1:56983400-57000800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:56985000-56993400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:56985000-56993600	Weak transcription	Fetal Brain Female	brain
6	chr1:56987000-57015000	Genic enhancers	NHDF-Ad	bronchial
7	chr1:56987600-56994200	Enhancers	Dnd41	blood
8	chr1:56988400-56993800	Enhancers	Primary B cells from peripheral blood	blood
9	chr1:56989400-56993600	Enhancers	Primary B cells from cord blood	blood
10	chr1:56990000-56995200	Genic enhancers	Fetal Muscle Leg	muscle
11	chr1:56990000-57004000	Genic enhancers	Liver	Liver
12	chr1:56990200-56993600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:56990200-56994400	Enhancers	Fetal Thymus	thymus
14	chr1:56990200-56998600	Enhancers	Brain Substantia Nigra	brain
15	chr1:56990400-56993200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:56990400-56996200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:56990600-56994000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:56990600-56995400	Enhancers	Small Intestine	intestine
19	chr1:56990600-56996600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:56990600-56997800	Enhancers	Brain Anterior Caudate	brain
21	chr1:56990800-56993200	Genic enhancers	HSMM	muscle
22	chr1:56990800-56994000	Enhancers	Thymus	Thymus
23	chr1:56990800-56994200	Genic enhancers	Muscle Satellite Cultured Cells	--
24	chr1:56990800-56996600	Genic enhancers	NHLF	lung
25	chr1:56990800-56997000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:56990800-56997200	Enhancers	Brain Cingulate Gyrus	brain
27	chr1:56990800-56997400	Enhancers	Brain Hippocampus Middle	brain
28	chr1:56991000-56996200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:56991200-56993800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:56991200-56993800	Enhancers	Fetal Kidney	kidney
31	chr1:56991200-56994000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:56991200-56994200	Enhancers	Psoas Muscle	Psoas
33	chr1:56991200-56994200	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr1:56991200-56994400	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr1:56991200-56994600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:56991200-56994600	Genic enhancers	Fetal Lung	lung
37	chr1:56991200-56994800	Enhancers	Adipose Nuclei	Adipose
38	chr1:56991200-56995000	Genic enhancers	Fetal Intestine Small	intestine
39	chr1:56991200-56995000	Enhancers	Right Ventricle	heart
40	chr1:56991200-56995200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:56991200-56995200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr1:56991200-56996600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr1:56991400-56993200	Weak transcription	Aorta	Aorta
44	chr1:56991400-56994600	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr1:56991400-56994800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
46	chr1:56991400-56995200	Enhancers	Fetal Intestine Large	intestine
47	chr1:56991600-56993200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:56991600-56993400	Weak transcription	Fetal Stomach	stomach
49	chr1:56991600-56994200	Enhancers	Left Ventricle	heart
50	chr1:56991600-56995000	Enhancers	Duodenum Mucosa	Duodenum

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