Variant report

Variant	rs331182
Chromosome Location	chr3:78937776-78937777
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs13075210	0.81[EUR][1000 genomes]
rs162262	0.87[EUR][1000 genomes]
rs162263	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs162264	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs162265	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs162266	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs162267	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs162268	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs162425	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs162426	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs162427	0.95[EUR][1000 genomes]
rs162428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs162429	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs186648	0.88[EUR][1000 genomes]
rs186688	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs328045	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs329805	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs329811	0.87[EUR][1000 genomes]
rs329812	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs329814	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs329815	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs329816	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs329817	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs329818	0.90[EUR][1000 genomes]
rs329819	0.91[EUR][1000 genomes]
rs329820	0.85[EUR][1000 genomes]
rs329821	0.86[EUR][1000 genomes]
rs329822	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs329824	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs329825	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs331139	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs331143	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs331145	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs331149	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs331161	0.88[EUR][1000 genomes]
rs331162	0.88[EUR][1000 genomes]
rs331163	0.88[EUR][1000 genomes]
rs331164	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs331181	0.91[EUR][1000 genomes]
rs331183	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs331184	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs331188	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs331189	0.88[EUR][1000 genomes]
rs331190	0.85[EUR][1000 genomes]
rs331199	0.86[EUR][1000 genomes]
rs388421	0.80[EUR][1000 genomes]
rs409361	0.86[EUR][1000 genomes]
rs420481	0.84[ASN][1000 genomes]
rs425121	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs432141	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs434929	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs453354	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs479956	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs498805	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs512135	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs531125	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6800782	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7619765	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010804	chr3:78739648-79087470	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv533681	chr3:78750924-79017336	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv834744	chr3:78911545-79076470	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv877020	chr3:78913203-78975982	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv470672	chr3:78913203-78985805	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv590734	chr3:78915205-78985805	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv590735	chr3:78922852-78977507	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78922600-78944000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:78923000-78943800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:78927600-78943800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:78930400-78937800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:78930400-78938600	Weak transcription	Psoas Muscle	Psoas
6	chr3:78930400-78942200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr3:78930400-78944000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:78930600-78948600	Weak transcription	Fetal Lung	lung
9	chr3:78930800-78943800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:78935400-78939200	Enhancers	Fetal Brain Male	brain
11	chr3:78936000-78938400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:78936200-78938000	Enhancers	NHLF	lung
13	chr3:78936200-78938200	Enhancers	HepG2	liver
14	chr3:78936400-78937800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:78936400-78937800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:78936400-78938600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:78936400-78938800	Enhancers	Brain Angular Gyrus	brain
18	chr3:78936400-78938800	Enhancers	Brain Hippocampus Middle	brain
19	chr3:78936600-78938000	Enhancers	Hela-S3	cervix
20	chr3:78936800-78937800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:78936800-78937800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:78936800-78942000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr3:78937000-78937800	Weak transcription	Fetal Brain Female	brain
24	chr3:78937000-78938000	Weak transcription	Brain Substantia Nigra	brain
25	chr3:78937000-78943800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr3:78937000-78946000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:78937000-78946400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:78937200-78937800	Enhancers	A549	lung
29	chr3:78937200-78938200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:78937200-78938800	Enhancers	NHDF-Ad	bronchial
31	chr3:78937200-78938800	Enhancers	NHEK	skin
32	chr3:78937200-78939000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:78937200-78943800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr3:78937400-78937800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:78937400-78938400	Weak transcription	Ovary	ovary
36	chr3:78937400-78938600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:78937400-78939200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:78937600-78938200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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