Variant report

Variant	rs6079065
Chromosome Location	chr20:13415447-13415448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2070304	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6074607	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6074619	0.96[ASN][1000 genomes]
rs6079058	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6079106	0.87[CEU][hapmap]
rs6109927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6109958	0.81[CEU][hapmap]
rs6131476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv1061303	chr20:13395546-13810990	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv585435	chr20:13410638-13582476	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13364600-13416800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr20:13374200-13417200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr20:13379200-13463000	Weak transcription	HSMM	muscle
4	chr20:13392600-13421400	Weak transcription	Psoas Muscle	Psoas
5	chr20:13393800-13416800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr20:13394000-13415600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr20:13394200-13416800	Weak transcription	Esophagus	oesophagus
8	chr20:13394200-13417200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr20:13395600-13416800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr20:13395600-13477800	Weak transcription	Gastric	stomach
11	chr20:13396000-13417000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr20:13397400-13421200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr20:13398200-13416800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr20:13398200-13417800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr20:13399800-13430800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr20:13403800-13435000	Weak transcription	HMEC	breast
17	chr20:13404400-13434800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr20:13404400-13434800	Weak transcription	NHEK	skin
19	chr20:13405400-13417200	Weak transcription	Small Intestine	intestine
20	chr20:13406800-13417400	Weak transcription	Colon Smooth Muscle	Colon
21	chr20:13407800-13417200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr20:13408000-13417400	Weak transcription	Fetal Brain Female	brain
23	chr20:13408000-13419600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr20:13408400-13417000	Weak transcription	Brain Anterior Caudate	brain
25	chr20:13408800-13416800	Weak transcription	Colonic Mucosa	Colon
26	chr20:13409000-13416800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr20:13409000-13419600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr20:13409200-13417400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr20:13409600-13416400	Strong transcription	Fetal Thymus	thymus
30	chr20:13410000-13421600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr20:13410600-13417400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr20:13411400-13417400	Weak transcription	Fetal Stomach	stomach
33	chr20:13411400-13435000	Weak transcription	Lung	lung
34	chr20:13411600-13415600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr20:13411600-13416000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr20:13411600-13416600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr20:13411600-13421400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr20:13411800-13416400	Weak transcription	A549	lung
39	chr20:13412200-13416200	Strong transcription	Primary B cells from cord blood	blood
40	chr20:13412400-13417600	Strong transcription	Dnd41	blood
41	chr20:13412600-13421800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr20:13412600-13424200	Weak transcription	HepG2	liver
43	chr20:13412800-13420600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr20:13413200-13417800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr20:13413600-13417200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr20:13413600-13433400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr20:13413800-13416000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr20:13413800-13416200	Strong transcription	Primary T cells from cord blood	blood
49	chr20:13414000-13416400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr20:13414200-13416400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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