Variant report

Variant	rs808905
Chromosome Location	chr12:56466679-56466680
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56464666..56467549-chr12:56498079..56499620,2	MCF-7	breast:
2	chr12:56460906..56463443-chr12:56465823..56468206,2	K562	blood:

Variant related genes	Relation type
ENSG00000170515	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11171736	0.83[AFR][1000 genomes]
rs1581007	0.82[AFR][1000 genomes]
rs1619653	0.82[AFR][1000 genomes]
rs1689507	0.85[AFR][1000 genomes]
rs1689516	0.81[AFR][1000 genomes]
rs1702870	0.88[AFR][1000 genomes]
rs1702871	0.88[AFR][1000 genomes]
rs1702875	0.91[AFR][1000 genomes]
rs2452822	0.82[AFR][1000 genomes]
rs2452826	0.81[AFR][1000 genomes]
rs2456445	0.85[AFR][1000 genomes]
rs2456446	0.85[AFR][1000 genomes]
rs2456969	0.90[AFR][1000 genomes]
rs705706	0.83[AFR][1000 genomes]
rs772917	0.82[AFR][1000 genomes]
rs772925	0.85[AFR][1000 genomes]
rs772926	0.85[AFR][1000 genomes]
rs773118	0.88[AFR][1000 genomes]
rs7977521	0.88[AFR][1000 genomes]
rs9738150	0.82[AFR][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	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv832427	chr12:56392545-56512774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs808905	TMEM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56437000-56472800	Weak transcription	Right Atrium	heart
2	chr12:56454400-56467800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:56464800-56467200	Enhancers	Placenta	Placenta
4	chr12:56465400-56467000	Enhancers	HepG2	liver
5	chr12:56465800-56467000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr12:56466200-56472400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:56466400-56467400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:56466400-56467400	Weak transcription	NHEK	skin
9	chr12:56466400-56471800	Weak transcription	Hela-S3	cervix
10	chr12:56466400-56472600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:56466600-56472600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:56466600-56472800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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