Variant report

Variant	rs4813126
Chromosome Location	chr20:13363581-13363582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1012242	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs1151919	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1474954	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs1474955	0.96[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs1474956	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1474957	0.82[ASN][1000 genomes]
rs2001178	0.96[CHB][hapmap];0.95[JPT][hapmap]
rs2057256	0.96[CHB][hapmap];0.95[JPT][hapmap]
rs2070306	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs2273477	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2876344	0.93[ASN][1000 genomes]
rs3761890	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs3803973	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3827702	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs3827703	0.96[CHB][hapmap];0.95[JPT][hapmap]
rs4813132	0.96[CHB][hapmap];0.95[JPT][hapmap]
rs4813134	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs4813135	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs4814233	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4814234	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4814246	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs518981	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs527865	0.96[ASN][1000 genomes]
rs529646	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs591089	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs593846	0.94[ASN][1000 genomes]
rs6033685	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6033686	0.87[ASN][1000 genomes]
rs6033687	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6033688	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6033705	0.96[CHB][hapmap];0.82[JPT][hapmap]
rs6033749	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6033756	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6042059	0.87[ASN][1000 genomes]
rs6042188	0.96[CHB][hapmap];0.95[JPT][hapmap]
rs6042192	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6042218	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs6074604	0.83[ASN][1000 genomes]
rs6074605	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs6074610	0.96[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6079032	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6079035	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6079042	0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs6079043	0.83[ASN][1000 genomes]
rs6079048	0.86[ASN][1000 genomes]
rs6079049	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs6079062	0.80[ASN][1000 genomes]
rs6079063	1.00[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs6079097	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6079115	0.96[CHB][hapmap];0.95[JPT][hapmap]
rs608239	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6105087	0.96[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs6109847	0.95[ASN][1000 genomes]
rs6109854	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs6109858	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs6109862	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6109935	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6131471	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6134862	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6134870	0.96[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs657719	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7265499	0.93[ASN][1000 genomes]
rs743183	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs911014	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs932568	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1062049	chr20:13347580-13477455	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv544186	chr20:13347580-13477455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13358800-13365600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:13360200-13368200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr20:13360600-13363600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr20:13360800-13363600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:13361800-13364400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr20:13361800-13364600	ZNF genes & repeats	Dnd41	blood
7	chr20:13361800-13369400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr20:13362200-13364400	ZNF genes & repeats	Fetal Intestine Small	intestine
9	chr20:13362200-13365400	Weak transcription	Thymus	Thymus
10	chr20:13362400-13363600	Weak transcription	Fetal Kidney	kidney
11	chr20:13362400-13364200	Weak transcription	Adipose Nuclei	Adipose
12	chr20:13362400-13364400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr20:13362400-13364600	Weak transcription	Primary T cells from cord blood	blood
14	chr20:13362400-13368200	Weak transcription	Primary B cells from cord blood	blood
15	chr20:13362400-13370600	Weak transcription	HepG2	liver
16	chr20:13362600-13374000	Weak transcription	Fetal Lung	lung
17	chr20:13362600-13376800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr20:13362800-13363600	Weak transcription	Aorta	Aorta
19	chr20:13362800-13363800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr20:13362800-13366000	Weak transcription	Gastric	stomach
21	chr20:13362800-13368000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr20:13362800-13368200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr20:13362800-13368400	Weak transcription	A549	lung
24	chr20:13362800-13368400	Weak transcription	NHEK	skin
25	chr20:13362800-13380600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr20:13363000-13364000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr20:13363200-13363600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr20:13363200-13364400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr20:13363200-13377400	Weak transcription	Fetal Brain Female	brain
30	chr20:13363400-13366000	Weak transcription	Fetal Intestine Large	intestine
31	chr20:13363400-13373200	Weak transcription	Fetal Muscle Trunk	muscle

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