Variant report

Variant	rs1470186
Chromosome Location	chr8:19795789-19795790
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	chr8:19795768-19796000	K562	blood:	n/a	chr8:19795890-19795905
2	MAFK	chr8:19795751-19796038	Hela-S3	cervix:	n/a	chr8:19795890-19795905
3	MAFK	chr8:19795728-19796054	HepG2	liver:	n/a	chr8:19795890-19795905
4	MAFF	chr8:19795754-19795998	K562	blood:	n/a	chr8:19795889-19795907
5	MAFF	chr8:19795767-19796045	HepG2	liver:	n/a	chr8:19795889-19795907
6	MAFK	chr8:19795732-19796040	HepG2	liver:	n/a	chr8:19795890-19795905
7	MAFK	chr8:19795754-19796048	IMR90	lung:	n/a	chr8:19795890-19795905

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19793876..19796137-chr8:19796466..19799568,3	K562	blood:

Variant related genes	Relation type
LPL	TF binding region
ENSG00000175445	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10092137	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10092531	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10092538	1.00[EUR][1000 genomes]
rs10099404	1.00[EUR][1000 genomes]
rs10102021	1.00[EUR][1000 genomes]
rs10102032	0.91[EUR][1000 genomes]
rs10102045	1.00[EUR][1000 genomes]
rs10102876	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10107119	1.00[EUR][1000 genomes]
rs10111437	1.00[EUR][1000 genomes]
rs1031045	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10503667	1.00[EUR][1000 genomes]
rs11992664	1.00[EUR][1000 genomes]
rs11997573	1.00[EUR][1000 genomes]
rs17091738	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17091742	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17482338	1.00[EUR][1000 genomes]
rs1800590	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1801177	1.00[EUR][1000 genomes]
rs2410615	0.91[EUR][1000 genomes]
rs28371439	1.00[EUR][1000 genomes]
rs28445964	1.00[EUR][1000 genomes]
rs28522139	1.00[EUR][1000 genomes]
rs28568947	1.00[EUR][1000 genomes]
rs28575919	1.00[EUR][1000 genomes]
rs28582042	1.00[EUR][1000 genomes]
rs28615996	1.00[EUR][1000 genomes]
rs28645722	1.00[EUR][1000 genomes]
rs28689946	1.00[EUR][1000 genomes]
rs28786747	1.00[EUR][1000 genomes]
rs35469180	0.91[EUR][1000 genomes]
rs3854905	1.00[EUR][1000 genomes]
rs3900537	1.00[EUR][1000 genomes]
rs3951339	1.00[EUR][1000 genomes]
rs4368997	1.00[EUR][1000 genomes]
rs56043715	1.00[EUR][1000 genomes]
rs59811201	1.00[EUR][1000 genomes]
rs60633545	1.00[EUR][1000 genomes]
rs60901125	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6586879	1.00[EUR][1000 genomes]
rs6984990	1.00[EUR][1000 genomes]
rs6995406	1.00[EUR][1000 genomes]
rs6996383	1.00[EUR][1000 genomes]
rs6997330	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6998260	1.00[EUR][1000 genomes]
rs6999612	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7000460	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7008626	0.91[EUR][1000 genomes]
rs7009128	0.83[EUR][1000 genomes]
rs7016529	1.00[EUR][1000 genomes]
rs73667455	1.00[EUR][1000 genomes]
rs73667459	1.00[EUR][1000 genomes]
rs73667461	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73667462	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73667463	1.00[EUR][1000 genomes]
rs73667465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73667468	1.00[EUR][1000 genomes]
rs73667469	1.00[EUR][1000 genomes]
rs73667470	0.91[EUR][1000 genomes]
rs7818864	1.00[EUR][1000 genomes]
rs7835874	1.00[EUR][1000 genomes]
rs7840666	1.00[EUR][1000 genomes]
rs7840815	1.00[EUR][1000 genomes]
rs7840959	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv498082	chr8:19722435-19873112	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv32767	chr8:19740189-19873082	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19794000-19796000	Enhancers	Fetal Heart	heart
2	chr8:19794200-19795800	Enhancers	Fetal Lung	lung
3	chr8:19794200-19796200	Enhancers	Adipose Nuclei	Adipose
4	chr8:19794600-19796200	Weak transcription	K562	blood
5	chr8:19794600-19796400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:19794600-19796400	Weak transcription	Pancreas	Pancrea
7	chr8:19794800-19796200	Weak transcription	Right Atrium	heart
8	chr8:19794800-19796400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:19794800-19796400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:19795000-19796400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr8:19795200-19796800	Weak transcription	Aorta	Aorta
12	chr8:19795400-19795800	Weak transcription	Fetal Brain Female	brain
13	chr8:19795400-19796200	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:19795400-19802000	Active TSS	Right Ventricle	heart
15	chr8:19795600-19796400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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