Variant report

Variant	rs176778
Chromosome Location	chr14:77885663-77885664
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:77785522..77790160-chr14:77881086..77890187,11	MCF-7	breast:
2	chr14:77884155..77885856-chr14:77891489..77893112,2	K562	blood:

Variant related genes	Relation type
ENSG00000009830	Chromatin interaction
ENSG00000100577	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10133896	0.82[EUR][1000 genomes]
rs10431633	0.83[AMR][1000 genomes]
rs10431634	0.84[AMR][1000 genomes]
rs1061629	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11159258	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11159259	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11159261	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11159262	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11159263	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11159264	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11622359	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11622832	0.80[EUR][1000 genomes]
rs11623826	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11624068	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11624200	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11624990	0.84[AMR][1000 genomes]
rs11625129	0.84[AMR][1000 genomes]
rs11625365	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11627016	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11627385	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11844594	0.82[EUR][1000 genomes]
rs12101153	0.84[EUR][1000 genomes]
rs12432247	0.82[EUR][1000 genomes]
rs12433766	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12435136	0.84[EUR][1000 genomes]
rs12436593	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12590773	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12878121	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12879316	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12885869	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12886224	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12889722	0.82[EUR][1000 genomes]
rs147316	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs176766	0.82[EUR][1000 genomes]
rs176767	0.81[EUR][1000 genomes]
rs176768	0.87[EUR][1000 genomes]
rs176772	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs176773	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs176781	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17824034	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17824316	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2091916	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2193595	0.82[EUR][1000 genomes]
rs2242619	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2364156	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35881785	0.83[EUR][1000 genomes]
rs4223	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4369582	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4575469	0.82[EUR][1000 genomes]
rs4899654	0.86[EUR][1000 genomes]
rs4899655	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4903576	0.82[EUR][1000 genomes]
rs4903577	0.85[EUR][1000 genomes]
rs4903579	0.84[EUR][1000 genomes]
rs4903580	0.84[EUR][1000 genomes]
rs4903583	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4903584	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4903586	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6574372	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66466131	0.81[EUR][1000 genomes]
rs67344054	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7142380	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7146595	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7146784	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7150718	0.82[EUR][1000 genomes]
rs7250	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs760257	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8005759	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8006688	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8016070	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8016576	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8018513	0.88[EUR][1000 genomes]
rs8018711	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8018808	0.82[EUR][1000 genomes]
rs963283	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1362	chr14:77853202-77898605	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1041985	chr14:77877421-77936969	Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs176778	TMED8	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77859600-77886200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:77872400-77888600	Weak transcription	Pancreas	Pancrea
3	chr14:77880400-77894400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:77881800-77888200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:77882400-77888000	Weak transcription	HSMM	muscle
6	chr14:77883800-77893200	Weak transcription	K562	blood
7	chr14:77884800-77891000	Weak transcription	HMEC	breast
8	chr14:77885000-77887400	Weak transcription	Esophagus	oesophagus
9	chr14:77885200-77888000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:77885200-77888000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:77885400-77887200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:77885600-77888000	Weak transcription	Fetal Kidney	kidney

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