Variant report

Variant	rs6074607
Chromosome Location	chr20:13382510-13382511
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2070304	0.86[EUR][1000 genomes]
rs6079058	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6079065	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6109927	0.86[EUR][1000 genomes]
rs6131476	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]

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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13364400-13415400	Weak transcription	Right Ventricle	heart
2	chr20:13364600-13416800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr20:13368600-13397400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr20:13368800-13392200	Weak transcription	Aorta	Aorta
5	chr20:13369000-13411200	Strong transcription	Dnd41	blood
6	chr20:13369400-13397000	Weak transcription	Primary B cells from cord blood	blood
7	chr20:13369400-13397200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr20:13369600-13397000	Weak transcription	Fetal Thymus	thymus
9	chr20:13371400-13413600	Weak transcription	Ovary	ovary
10	chr20:13371800-13397200	Weak transcription	Primary T cells from cord blood	blood
11	chr20:13372000-13395800	Weak transcription	HepG2	liver
12	chr20:13372000-13396400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr20:13372000-13397400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr20:13372000-13397400	Weak transcription	Left Ventricle	heart
15	chr20:13372000-13397400	Weak transcription	Thymus	Thymus
16	chr20:13374200-13417200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr20:13374400-13382800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr20:13374400-13384000	Weak transcription	Pancreas	Pancrea
19	chr20:13374400-13410800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr20:13374600-13397400	Weak transcription	Fetal Intestine Small	intestine
21	chr20:13374600-13399400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr20:13374600-13405800	Weak transcription	Fetal Stomach	stomach
23	chr20:13379000-13410200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr20:13379200-13463000	Weak transcription	HSMM	muscle
25	chr20:13380800-13397600	Weak transcription	Fetal Lung	lung
26	chr20:13382000-13383000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr20:13382000-13383200	Enhancers	HUVEC	blood vessel
28	chr20:13382000-13383400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr20:13382000-13383800	Enhancers	NHEK	skin
30	chr20:13382200-13382800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr20:13382200-13383200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr20:13382400-13382600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr20:13382400-13382800	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr20:13382400-13383200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr20:13382400-13383400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr20:13382400-13383400	Enhancers	NHDF-Ad	bronchial
37	chr20:13382400-13383600	Enhancers	HMEC	breast

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