Variant report

Variant	rs180428
Chromosome Location	chr12:47176577-47176578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10880996	0.87[AMR][1000 genomes]
rs10880997	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11183600	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11610453	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11830275	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12423908	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12426014	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12426320	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12426545	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12426593	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12823568	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs180409	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs180423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs180427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs180429	0.81[ASN][1000 genomes]
rs180430	0.81[ASN][1000 genomes]
rs2080687	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2111772	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2408622	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35813765	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs35827448	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4140781	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4140782	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7484804	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7484950	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7972141	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][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	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv826361	chr12:47159545-47200894	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47164200-47187800	Genic enhancers	Liver	Liver
2	chr12:47165200-47187200	Weak transcription	Fetal Kidney	kidney
3	chr12:47165600-47182000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:47168400-47177600	Weak transcription	NHLF	lung
5	chr12:47168400-47180800	Weak transcription	Pancreas	Pancrea
6	chr12:47169000-47177600	Weak transcription	HSMMtube	muscle
7	chr12:47169400-47180000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:47169400-47182200	Weak transcription	Psoas Muscle	Psoas
9	chr12:47169400-47185200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:47173800-47177400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:47174200-47177200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:47174200-47177200	Weak transcription	HepG2	liver
13	chr12:47174400-47177800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:47175200-47179200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:47175600-47177600	Weak transcription	HSMM	muscle
16	chr12:47175600-47178600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:47175600-47183000	Weak transcription	Aorta	Aorta

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