Variant report

Variant	rs57040076
Chromosome Location	chr2:110302483-110302484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1808717	1.00[EUR][1000 genomes]
rs2060401	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58226255	1.00[EUR][1000 genomes]
rs60099402	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60665845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73953149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73953167	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953168	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73953898	1.00[EUR][1000 genomes]
rs73953935	1.00[EUR][1000 genomes]
rs7590182	1.00[EUR][1000 genomes]
rs9678951	1.00[EUR][1000 genomes]
rs9752603	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv2874	chr2:110289373-110333621	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110291000-110309400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:110291800-110309400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:110293200-110302600	Weak transcription	Fetal Lung	lung
4	chr2:110293200-110316200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:110293400-110303200	Weak transcription	NHLF	lung
6	chr2:110293400-110304000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:110293400-110309400	Weak transcription	Left Ventricle	heart
8	chr2:110293400-110309600	Weak transcription	Lung	lung
9	chr2:110293400-110309600	Weak transcription	NHDF-Ad	bronchial
10	chr2:110293400-110331600	Weak transcription	Right Ventricle	heart
11	chr2:110293400-110352200	Weak transcription	Gastric	stomach
12	chr2:110293600-110302600	Weak transcription	Fetal Intestine Large	intestine
13	chr2:110293600-110302600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:110293600-110309400	Weak transcription	Liver	Liver
15	chr2:110295400-110302600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:110295400-110302800	Weak transcription	HMEC	breast
17	chr2:110295800-110302600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:110296000-110302600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:110296000-110302600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:110296000-110302600	Weak transcription	Fetal Stomach	stomach
21	chr2:110296000-110302800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:110296000-110312200	Weak transcription	Stomach Mucosa	stomach
23	chr2:110296200-110302600	Weak transcription	Adipose Nuclei	Adipose
24	chr2:110296200-110302600	Weak transcription	HepG2	liver
25	chr2:110296400-110302800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr2:110296400-110309400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:110296400-110309400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:110296400-110309400	Weak transcription	HSMMtube	muscle
29	chr2:110296400-110313400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:110296800-110302600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:110296800-110303000	Weak transcription	HUVEC	blood vessel
32	chr2:110296800-110309400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:110297400-110304000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:110297400-110351600	Weak transcription	Brain Germinal Matrix	brain
35	chr2:110297800-110331800	Weak transcription	Colonic Mucosa	Colon
36	chr2:110298000-110302600	Weak transcription	A549	lung
37	chr2:110298000-110303800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:110298000-110309200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:110298000-110310200	Weak transcription	Hela-S3	cervix
40	chr2:110298200-110302600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:110298400-110302600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:110298400-110309600	Weak transcription	Ovary	ovary
43	chr2:110298800-110302600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr2:110299000-110302800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:110299000-110303800	Strong transcription	Osteobl	bone
46	chr2:110299600-110302800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:110299600-110303000	Weak transcription	HSMM	muscle
48	chr2:110299600-110303200	Weak transcription	Placenta	Placenta
49	chr2:110299600-110309400	Weak transcription	Aorta	Aorta
50	chr2:110299600-110309600	Weak transcription	Pancreas	Pancrea

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