Variant report

Variant	rs2051040
Chromosome Location	chr1:57142755-57142756
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10749709	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10889001	0.84[ASN][1000 genomes]
rs10889002	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10889003	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11206875	0.81[ASN][1000 genomes]
rs11206879	0.82[ASN][1000 genomes]
rs11206891	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12134054	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12138351	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12402675	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12405291	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12759063	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2143749	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2746342	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2746344	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2796542	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4451572	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4561065	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4912408	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4912411	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6588645	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6588646	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6588647	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6663750	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6676950	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6688242	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6688263	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv523032	chr1:57116909-57249558	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	esv1831276	chr1:57139370-57175158	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57122800-57169600	Weak transcription	Ovary	ovary
2	chr1:57123000-57143400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:57125600-57169800	Weak transcription	Aorta	Aorta
4	chr1:57129800-57152200	Weak transcription	Psoas Muscle	Psoas
5	chr1:57135400-57160200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:57136200-57161400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:57141600-57143000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr1:57141600-57144000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:57141600-57144000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr1:57141800-57143000	Enhancers	NHDF-Ad	bronchial
11	chr1:57141800-57143200	Enhancers	NHLF	lung
12	chr1:57141800-57143400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:57141800-57144000	Enhancers	Hela-S3	cervix
14	chr1:57142000-57142800	Enhancers	A549	lung
15	chr1:57142000-57142800	Enhancers	HSMM	muscle
16	chr1:57142000-57143200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:57142000-57143400	Enhancers	Fetal Heart	heart
18	chr1:57142200-57143000	Enhancers	NH-A	brain
19	chr1:57142200-57143200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:57142200-57145000	Weak transcription	Left Ventricle	heart
21	chr1:57142600-57142800	Enhancers	Osteobl	bone
22	chr1:57142600-57144000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:57142600-57145000	Weak transcription	HepG2	liver
24	chr1:57142600-57150400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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