Variant report

Variant	rs73264980
Chromosome Location	chr20:13334213-13334214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:13325563..13328310-chr20:13332804..13334658,2	K562	blood:

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs1024208	1.00[EUR][1000 genomes]
rs1028849	1.00[EUR][1000 genomes]
rs12329620	1.00[ASN][1000 genomes]
rs12479480	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12479483	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12479520	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12479594	1.00[EUR][1000 genomes]
rs12479746	1.00[EUR][1000 genomes]
rs12479849	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480005	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480101	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480217	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480263	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480266	1.00[ASN][1000 genomes]
rs12480276	1.00[ASN][1000 genomes]
rs12480277	1.00[EUR][1000 genomes]
rs12480285	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480426	1.00[EUR][1000 genomes]
rs12480457	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480493	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480587	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480970	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480977	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12481107	1.00[EUR][1000 genomes]
rs12481227	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12481291	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12481494	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1321297	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535410	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1812562	1.00[ASN][1000 genomes]
rs2008702	1.00[ASN][1000 genomes]
rs2038437	1.00[ASN][1000 genomes]
rs2145139	1.00[ASN][1000 genomes]
rs2145140	1.00[ASN][1000 genomes]
rs2327755	1.00[ASN][1000 genomes]
rs34573439	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34988299	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4471952	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4502495	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57675086	1.00[ASN][1000 genomes]
rs57873080	1.00[ASN][1000 genomes]
rs58129464	1.00[ASN][1000 genomes]
rs59051161	1.00[ASN][1000 genomes]
rs59299264	1.00[ASN][1000 genomes]
rs59388287	1.00[ASN][1000 genomes]
rs6033689	1.00[ASN][1000 genomes]
rs6033690	1.00[ASN][1000 genomes]
rs6033693	1.00[ASN][1000 genomes]
rs6033695	1.00[ASN][1000 genomes]
rs6033699	1.00[ASN][1000 genomes]
rs6033702	1.00[ASN][1000 genomes]
rs6033703	1.00[ASN][1000 genomes]
rs6033704	1.00[ASN][1000 genomes]
rs6033706	1.00[ASN][1000 genomes]
rs6033708	1.00[ASN][1000 genomes]
rs6033712	1.00[ASN][1000 genomes]
rs6033714	1.00[ASN][1000 genomes]
rs6033716	1.00[ASN][1000 genomes]
rs6033718	1.00[ASN][1000 genomes]
rs6042069	1.00[ASN][1000 genomes]
rs6042075	1.00[ASN][1000 genomes]
rs6042077	1.00[ASN][1000 genomes]
rs6042079	1.00[ASN][1000 genomes]
rs6042081	1.00[ASN][1000 genomes]
rs6042082	1.00[ASN][1000 genomes]
rs6042083	1.00[ASN][1000 genomes]
rs6042084	1.00[ASN][1000 genomes]
rs6042086	1.00[ASN][1000 genomes]
rs6042089	1.00[ASN][1000 genomes]
rs6042093	1.00[ASN][1000 genomes]
rs6042095	1.00[ASN][1000 genomes]
rs6042101	1.00[ASN][1000 genomes]
rs6042107	1.00[ASN][1000 genomes]
rs6042108	1.00[ASN][1000 genomes]
rs6042111	1.00[ASN][1000 genomes]
rs6042113	1.00[ASN][1000 genomes]
rs6042116	1.00[ASN][1000 genomes]
rs6042120	1.00[ASN][1000 genomes]
rs6042121	1.00[ASN][1000 genomes]
rs6042130	1.00[ASN][1000 genomes]
rs6042136	1.00[ASN][1000 genomes]
rs6105082	1.00[ASN][1000 genomes]
rs6105083	1.00[ASN][1000 genomes]
rs6105088	1.00[ASN][1000 genomes]
rs6105089	1.00[ASN][1000 genomes]
rs6105092	1.00[ASN][1000 genomes]
rs6105093	1.00[ASN][1000 genomes]
rs6105094	1.00[ASN][1000 genomes]
rs6105097	1.00[ASN][1000 genomes]
rs6105108	1.00[ASN][1000 genomes]
rs6105109	1.00[ASN][1000 genomes]
rs6105111	0.83[EUR][1000 genomes]
rs6109849	1.00[ASN][1000 genomes]
rs6109859	1.00[ASN][1000 genomes]
rs6109863	1.00[ASN][1000 genomes]
rs6109866	1.00[ASN][1000 genomes]
rs6109868	1.00[ASN][1000 genomes]
rs6109869	1.00[ASN][1000 genomes]
rs6109870	1.00[ASN][1000 genomes]
rs6109871	1.00[ASN][1000 genomes]
rs6109872	1.00[ASN][1000 genomes]
rs6109873	1.00[ASN][1000 genomes]
rs6109883	1.00[ASN][1000 genomes]
rs6109886	1.00[ASN][1000 genomes]
rs6109888	1.00[ASN][1000 genomes]
rs6109889	1.00[ASN][1000 genomes]
rs6109895	1.00[ASN][1000 genomes]
rs6109896	1.00[ASN][1000 genomes]
rs6109900	1.00[ASN][1000 genomes]
rs6109901	1.00[ASN][1000 genomes]
rs6109902	1.00[ASN][1000 genomes]
rs61151551	1.00[ASN][1000 genomes]
rs61612076	1.00[ASN][1000 genomes]
rs7348566	1.00[ASN][1000 genomes]
rs73901179	1.00[ASN][1000 genomes]
rs8119260	1.00[ASN][1000 genomes]
rs927122	1.00[ASN][1000 genomes]
rs9653627	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057219	chr20:12729479-13338337	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1067036	chr20:12737436-13338337	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv3488304	chr20:12738054-13341279	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv3488305	chr20:12738054-13341279	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv518184	chr20:12743808-13344672	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	esv3425983	chr20:13046768-13461834	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv14953	chr20:13233949-13336340	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv17900	chr20:13279946-13336560	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv21228	chr20:13283535-13447810	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13310200-13350000	Weak transcription	Pancreas	Pancrea
2	chr20:13324200-13337000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr20:13325600-13354000	Weak transcription	Dnd41	blood
4	chr20:13329800-13335000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr20:13329800-13336400	Weak transcription	HSMMtube	muscle
6	chr20:13330000-13337000	Weak transcription	Fetal Stomach	stomach
7	chr20:13330200-13336400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr20:13330800-13335400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr20:13334000-13334400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr20:13334000-13335200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr20:13334000-13338200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr20:13334200-13334400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr20:13334200-13334400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr20:13334200-13334400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr20:13334200-13336000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr20:13334200-13336200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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