Variant report

Variant	rs5002437
Chromosome Location	chr3:134039158-134039159
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11707704	1.00[ASN][1000 genomes]
rs11917363	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11919447	1.00[ASN][1000 genomes]
rs11923513	1.00[ASN][1000 genomes]
rs11928672	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11928907	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13069766	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13071132	1.00[ASN][1000 genomes]
rs13084853	1.00[ASN][1000 genomes]
rs13085145	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13090504	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13097926	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1498730	1.00[ASN][1000 genomes]
rs17312996	1.00[ASN][1000 genomes]
rs17313003	1.00[ASN][1000 genomes]
rs34006849	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34524468	1.00[ASN][1000 genomes]
rs34549392	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35098409	1.00[ASN][1000 genomes]
rs35471660	1.00[ASN][1000 genomes]
rs35527623	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35558600	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35878592	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846052	1.00[ASN][1000 genomes]
rs3913262	1.00[ASN][1000 genomes]
rs4234421	0.84[EUR][1000 genomes]
rs4339087	1.00[ASN][1000 genomes]
rs5002434	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5002435	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5002436	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55682444	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56019901	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59458665	1.00[ASN][1000 genomes]
rs61145443	1.00[ASN][1000 genomes]
rs62271221	1.00[ASN][1000 genomes]
rs6439474	1.00[ASN][1000 genomes]
rs6439476	1.00[ASN][1000 genomes]
rs6768709	1.00[ASN][1000 genomes]
rs6772791	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6776727	1.00[ASN][1000 genomes]
rs6804439	1.00[ASN][1000 genomes]
rs6809909	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71331753	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71331755	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72986454	1.00[ASN][1000 genomes]
rs73215399	1.00[ASN][1000 genomes]
rs7609766	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7613323	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7613440	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7613450	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7614069	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7636249	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7637889	0.84[EUR][1000 genomes]
rs7638751	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7642519	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7647682	0.81[EUR][1000 genomes]
rs7647778	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7651578	1.00[ASN][1000 genomes]
rs9826364	0.84[EUR][1000 genomes]
rs9827007	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134034000-134039400	Weak transcription	Gastric	stomach
2	chr3:134034600-134046200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:134034800-134041600	Weak transcription	Pancreas	Pancrea
4	chr3:134034800-134043200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:134034800-134044200	Weak transcription	Right Ventricle	heart
6	chr3:134035000-134039400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:134035000-134041200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:134035000-134044000	Weak transcription	Fetal Heart	heart
9	chr3:134035000-134044200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:134035000-134045000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr3:134035000-134058800	Weak transcription	Liver	Liver
12	chr3:134035200-134039400	Weak transcription	Stomach Mucosa	stomach
13	chr3:134036600-134039200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr3:134036600-134043200	Weak transcription	Lung	lung
15	chr3:134036600-134044200	Weak transcription	Esophagus	oesophagus
16	chr3:134036600-134045000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:134036600-134050600	Weak transcription	Fetal Brain Female	brain
18	chr3:134036800-134039400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:134036800-134039400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:134036800-134039400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:134036800-134039400	Weak transcription	NHLF	lung
22	chr3:134037000-134039400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:134037000-134039400	Weak transcription	NH-A	brain
24	chr3:134037000-134042600	Weak transcription	Adipose Nuclei	Adipose
25	chr3:134037200-134039400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:134037200-134039400	Weak transcription	Placenta	Placenta
27	chr3:134037200-134039400	Weak transcription	A549	lung
28	chr3:134037200-134039600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:134037200-134042800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:134037200-134043200	Weak transcription	NHDF-Ad	bronchial
31	chr3:134037200-134043400	Weak transcription	HSMMtube	muscle
32	chr3:134037400-134039200	Weak transcription	HMEC	breast
33	chr3:134037600-134039200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:134037600-134039400	Weak transcription	Osteobl	bone
35	chr3:134037600-134040800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:134038800-134039400	Enhancers	NHEK	skin
37	chr3:134038800-134040000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr3:134038800-134040000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:134038800-134040000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:134038800-134040200	Enhancers	HSMM	muscle

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