Variant report

Variant	rs12082242
Chromosome Location	chr1:56994043-56994044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10888977	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206838	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12134109	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1759750	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1759752	0.98[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1777274	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1777277	0.98[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1810930	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1930760	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1930762	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2017955	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4532850	0.94[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4912377	0.86[AFR][1000 genomes]
rs55798508	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7551402	0.89[EUR][1000 genomes]
rs7556056	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs953856	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs953857	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs993075	0.94[AFR][1000 genomes];0.86[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:97 , 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	chr1:56987000-57015000	Genic enhancers	NHDF-Ad	bronchial
5	chr1:56987600-56994200	Enhancers	Dnd41	blood
6	chr1:56990000-56995200	Genic enhancers	Fetal Muscle Leg	muscle
7	chr1:56990000-57004000	Genic enhancers	Liver	Liver
8	chr1:56990200-56994400	Enhancers	Fetal Thymus	thymus
9	chr1:56990200-56998600	Enhancers	Brain Substantia Nigra	brain
10	chr1:56990400-56996200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:56990600-56995400	Enhancers	Small Intestine	intestine
12	chr1:56990600-56996600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:56990600-56997800	Enhancers	Brain Anterior Caudate	brain
14	chr1:56990800-56994200	Genic enhancers	Muscle Satellite Cultured Cells	--
15	chr1:56990800-56996600	Genic enhancers	NHLF	lung
16	chr1:56990800-56997000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:56990800-56997200	Enhancers	Brain Cingulate Gyrus	brain
18	chr1:56990800-56997400	Enhancers	Brain Hippocampus Middle	brain
19	chr1:56991000-56996200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:56991200-56994200	Enhancers	Psoas Muscle	Psoas
21	chr1:56991200-56994200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr1:56991200-56994400	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr1:56991200-56994600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:56991200-56994600	Genic enhancers	Fetal Lung	lung
25	chr1:56991200-56994800	Enhancers	Adipose Nuclei	Adipose
26	chr1:56991200-56995000	Genic enhancers	Fetal Intestine Small	intestine
27	chr1:56991200-56995000	Enhancers	Right Ventricle	heart
28	chr1:56991200-56995200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:56991200-56995200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr1:56991200-56996600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:56991400-56994600	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr1:56991400-56994800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:56991400-56995200	Enhancers	Fetal Intestine Large	intestine
34	chr1:56991600-56994200	Enhancers	Left Ventricle	heart
35	chr1:56991600-56995000	Enhancers	Duodenum Mucosa	Duodenum
36	chr1:56991600-56995600	Enhancers	Colon Smooth Muscle	Colon
37	chr1:56991800-56994200	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr1:56991800-56995000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:56991800-56996800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:56992000-56994600	Enhancers	Fetal Heart	heart
41	chr1:56992000-56994800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr1:56992000-56995000	Weak transcription	Osteobl	bone
43	chr1:56992000-56995600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr1:56992000-57001200	Weak transcription	Spleen	Spleen
45	chr1:56992200-56995000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr1:56992200-56995200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr1:56992200-56995400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr1:56992400-56995200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:56992400-56995200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:56992400-56995200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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