Variant report

Variant	rs331188
Chromosome Location	chr3:78933674-78933675
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs162262	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs162263	0.86[EUR][1000 genomes]
rs162264	0.80[EUR][1000 genomes]
rs162265	0.83[EUR][1000 genomes]
rs162266	0.84[EUR][1000 genomes]
rs162267	0.83[EUR][1000 genomes]
rs162268	0.82[EUR][1000 genomes]
rs162425	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs162426	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs162427	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162428	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs162429	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs186648	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs328045	0.83[EUR][1000 genomes]
rs329805	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs329811	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs329812	0.84[EUR][1000 genomes]
rs329814	0.80[EUR][1000 genomes]
rs329815	0.83[EUR][1000 genomes]
rs329816	0.86[EUR][1000 genomes]
rs329817	0.83[EUR][1000 genomes]
rs329818	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs329819	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs329820	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs329821	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs329822	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs329824	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs331139	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs331143	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs331145	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs331149	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs331161	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs331162	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs331163	0.86[EUR][1000 genomes]
rs331164	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs331181	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs331182	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs331183	0.82[EUR][1000 genomes]
rs331184	0.85[EUR][1000 genomes]
rs331189	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs331190	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs331199	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs369346	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs379346	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs387900	0.84[ASN][1000 genomes]
rs388421	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs409361	0.80[EUR][1000 genomes]
rs420481	0.82[EUR][1000 genomes]
rs425121	0.83[EUR][1000 genomes]
rs432141	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs434929	0.83[EUR][1000 genomes]
rs453354	0.84[EUR][1000 genomes]
rs479956	0.81[EUR][1000 genomes]
rs484531	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs498805	0.81[EUR][1000 genomes]
rs512135	0.81[EUR][1000 genomes]
rs531125	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6800782	0.86[EUR][1000 genomes]
rs7619765	0.81[EUR][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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78921600-78936000	Weak transcription	HSMM	muscle
2	chr3:78921600-78936600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:78922600-78944000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:78923000-78943800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:78927400-78936400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:78927600-78943800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:78927800-78936200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:78929400-78936400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:78930000-78936200	Weak transcription	NHLF	lung
10	chr3:78930400-78934000	Weak transcription	Fetal Brain Female	brain
11	chr3:78930400-78937800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:78930400-78938600	Weak transcription	Psoas Muscle	Psoas
13	chr3:78930400-78942200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr3:78930400-78944000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:78930600-78936400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr3:78930600-78948600	Weak transcription	Fetal Lung	lung
17	chr3:78930800-78936800	Weak transcription	Colon Smooth Muscle	Colon
18	chr3:78930800-78943800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr3:78931000-78936400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:78931200-78936400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:78931400-78936400	Weak transcription	NHDF-Ad	bronchial
22	chr3:78931600-78937200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:78933200-78934200	Enhancers	Fetal Brain Male	brain
24	chr3:78933200-78934400	Enhancers	HepG2	liver

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