Variant report

Variant	rs6134754
Chromosome Location	chr20:13027457-13027458
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1594473	0.86[JPT][hapmap]
rs1835661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2073302	0.86[CHB][hapmap]
rs2236127	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs3848771	0.80[JPT][hapmap]
rs3910132	0.80[JPT][hapmap]
rs4281972	0.80[JPT][hapmap]
rs4289254	0.80[JPT][hapmap]
rs4813106	0.86[JPT][hapmap]
rs6041836	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6041837	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6041841	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs6041842	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs6131425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6131432	0.80[JPT][hapmap]
rs6134768	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6134769	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6134771	0.85[YRI][hapmap]
rs6134772	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs6134777	0.80[JPT][hapmap]
rs6134778	0.80[JPT][hapmap]
rs8113891	0.80[JPT][hapmap]
rs8114046	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8119959	0.80[JPT][hapmap]
rs8120012	0.80[JPT][hapmap]
rs8126205	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv912684	chr20:12734299-13311983	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv1063587	chr20:12756524-13330103	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv544185	chr20:12756524-13330103	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv916296	chr20:12756605-13329940	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv1067720	chr20:12756725-13329963	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv532513	chr20:12756725-13329963	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv1064901	chr20:12773504-13318421	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv833923	chr20:12904689-13064426	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv833924	chr20:12997093-13189239	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13003800-13049600	Weak transcription	Lung	lung
2	chr20:13004000-13029200	Weak transcription	Ovary	ovary
3	chr20:13011800-13029600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr20:13018600-13041800	Weak transcription	NHEK	skin
5	chr20:13023000-13029600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr20:13023200-13032000	Weak transcription	Gastric	stomach
7	chr20:13023200-13032800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr20:13023400-13030400	Weak transcription	Adipose Nuclei	Adipose
9	chr20:13023600-13027600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr20:13024000-13032200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr20:13024200-13030200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr20:13024200-13033000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr20:13024200-13033000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr20:13024400-13029600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr20:13025400-13027800	Genic enhancers	HepG2	liver
16	chr20:13025600-13032800	Weak transcription	Right Ventricle	heart
17	chr20:13026000-13049400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr20:13026400-13027600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr20:13026400-13027600	ZNF genes & repeats	Aorta	Aorta
20	chr20:13026600-13027600	Enhancers	Duodenum Mucosa	Duodenum
21	chr20:13026800-13027600	Enhancers	Small Intestine	intestine
22	chr20:13027000-13027800	Enhancers	Liver	Liver
23	chr20:13027000-13039200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr20:13027200-13027600	Enhancers	Fetal Intestine Small	intestine
25	chr20:13027200-13027600	Enhancers	Pancreas	Pancrea
26	chr20:13027400-13029000	Weak transcription	Placenta	Placenta
27	chr20:13027400-13029600	Weak transcription	Fetal Intestine Large	intestine
28	chr20:13027400-13029600	Weak transcription	Left Ventricle	heart

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