Variant report

Variant	rs6042063
Chromosome Location	chr20:13372930-13372931
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr20:13372598-13373336	HepG2	liver:	n/a	chr20:13372701-13372712 chr20:13372701-13372712 chr20:13373187-13373198 chr20:13373186-13373201 chr20:13372700-13372711

Variant related genes	Relation type
GAPDHP2	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12106004	0.87[TSI][hapmap]
rs1812562	1.00[ASW][hapmap];0.84[LWK][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28867078	0.83[EUR][1000 genomes]
rs45489891	0.96[EUR][1000 genomes]
rs45602236	0.96[EUR][1000 genomes]
rs55940819	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6033689	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6033690	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6042061	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6042068	0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6042069	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6042076	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6042080	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6042105	0.96[EUR][1000 genomes]
rs6042143	0.89[AMR][1000 genomes]
rs6042145	0.82[CEU][hapmap];0.87[TSI][hapmap];0.96[EUR][1000 genomes]
rs6042151	0.96[EUR][1000 genomes]
rs6105082	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6105083	1.00[ASW][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6109848	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6109849	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6109850	0.82[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6109882	0.96[EUR][1000 genomes]
rs6109895	0.82[CEU][hapmap]
rs8121784	0.82[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13362600-13374000	Weak transcription	Fetal Lung	lung
2	chr20:13362600-13376800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr20:13362800-13380600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:13363200-13377400	Weak transcription	Fetal Brain Female	brain
5	chr20:13363400-13373200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr20:13363600-13375800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr20:13363600-13375800	Weak transcription	HSMMtube	muscle
8	chr20:13363800-13373400	Weak transcription	Liver	Liver
9	chr20:13363800-13376200	Weak transcription	Fetal Muscle Leg	muscle
10	chr20:13364000-13377400	Weak transcription	Brain Angular Gyrus	brain
11	chr20:13364400-13376400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr20:13364400-13415400	Weak transcription	Right Ventricle	heart
13	chr20:13364600-13374200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr20:13364600-13379000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr20:13364600-13416800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr20:13364800-13375400	Weak transcription	Colonic Mucosa	Colon
17	chr20:13364800-13377600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr20:13365400-13373000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr20:13365400-13375800	Weak transcription	HSMM	muscle
20	chr20:13365600-13376000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr20:13366200-13373600	Weak transcription	Brain Hippocampus Middle	brain
22	chr20:13366200-13373800	Weak transcription	Esophagus	oesophagus
23	chr20:13366600-13375600	Weak transcription	Fetal Intestine Large	intestine
24	chr20:13366800-13375800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr20:13367200-13378400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr20:13367600-13373800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr20:13368000-13376600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr20:13368600-13376000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr20:13368600-13376400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr20:13368600-13378400	Weak transcription	GM12878-XiMat	blood
31	chr20:13368600-13382400	Weak transcription	HMEC	breast
32	chr20:13368600-13397400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr20:13368800-13373000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr20:13368800-13373200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr20:13368800-13373600	Weak transcription	Fetal Stomach	stomach
36	chr20:13368800-13373600	Weak transcription	Pancreas	Pancrea
37	chr20:13368800-13375400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr20:13368800-13376400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr20:13368800-13392200	Weak transcription	Aorta	Aorta
40	chr20:13369000-13375200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr20:13369000-13411200	Strong transcription	Dnd41	blood
42	chr20:13369400-13373400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr20:13369400-13377400	Weak transcription	Colon Smooth Muscle	Colon
44	chr20:13369400-13377600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr20:13369400-13380200	Weak transcription	Psoas Muscle	Psoas
46	chr20:13369400-13397000	Weak transcription	Primary B cells from cord blood	blood
47	chr20:13369400-13397200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr20:13369600-13373600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr20:13369600-13397000	Weak transcription	Fetal Thymus	thymus
50	chr20:13369800-13376000	Weak transcription	Primary T cells fromperipheralblood	blood

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