Variant report

Variant	rs801118
Chromosome Location	chr7:140732723-140732724
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	chr7:140713792..140716821-chr7:140730558..140733382,4	K562	blood:

Variant related genes	Relation type
ENSG00000090263	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10279193	0.83[EUR][1000 genomes]
rs1089265	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1091557	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534351	0.83[EUR][1000 genomes]
rs12534354	0.83[EUR][1000 genomes]
rs1860481	0.85[EUR][1000 genomes]
rs2079829	0.85[EUR][1000 genomes]
rs246738	0.85[EUR][1000 genomes]
rs246740	0.85[EUR][1000 genomes]
rs246741	0.85[EUR][1000 genomes]
rs246742	0.85[EUR][1000 genomes]
rs246743	0.92[EUR][1000 genomes]
rs246744	0.94[EUR][1000 genomes]
rs246745	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246746	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3844322	0.83[EUR][1000 genomes]
rs38716	0.98[EUR][1000 genomes]
rs38721	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs38724	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs38725	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs38727	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs38728	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs38729	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs38733	0.97[AFR][1000 genomes]
rs38737	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs38741	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38743	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62486595	1.00[ASN][1000 genomes]
rs62486599	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949856	0.85[EUR][1000 genomes]
rs6950813	0.83[EUR][1000 genomes]
rs7778860	0.83[EUR][1000 genomes]
rs7782666	0.85[EUR][1000 genomes]
rs7787917	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7791022	1.00[ASN][1000 genomes]
rs801119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs801122	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs801124	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs801126	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9640306	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030195	chr7:140615828-140746345	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs801118	TMEM178B	cis	Esophagus Mucosa	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140732000-140732800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:140732400-140732800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:140732400-140732800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:140732400-140732800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr7:140732400-140732800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:140732400-140732800	Active TSS	Placenta	Placenta
7	chr7:140732400-140733200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:140732400-140733200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:140732600-140732800	Active TSS	K562	blood

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