Variant report

Variant	rs2079829
Chromosome Location	chr7:140679023-140679024
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	chr7:140673174..140674792-chr7:140679004..140681718,2	MCF-7	breast:
2	chr7:140622964..140625760-chr7:140677459..140679390,2	K562	blood:

Variant related genes	Relation type
ENSG00000157764	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10243698	0.87[EUR][1000 genomes]
rs10271387	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279193	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1089265	0.85[EUR][1000 genomes]
rs1091374	1.00[ASN][1000 genomes]
rs1091557	0.85[EUR][1000 genomes]
rs12534351	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534354	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860481	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246738	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246740	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246741	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246742	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246743	1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246744	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246745	1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs246746	0.85[EUR][1000 genomes]
rs2533300	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2533307	1.00[ASN][1000 genomes]
rs2533308	1.00[ASN][1000 genomes]
rs2688429	1.00[ASN][1000 genomes]
rs3844322	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38716	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38725	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38727	1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38728	1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38729	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38733	1.00[JPT][hapmap]
rs38737	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38741	1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs38743	1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs4020017	1.00[ASN][1000 genomes]
rs4020018	1.00[ASN][1000 genomes]
rs4726134	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4726136	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62486599	0.82[EUR][1000 genomes]
rs6949856	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950813	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71645926	1.00[ASN][1000 genomes]
rs7778860	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7782666	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787917	0.83[EUR][1000 genomes]
rs801096	1.00[ASN][1000 genomes]
rs801097	1.00[ASN][1000 genomes]
rs801118	0.85[EUR][1000 genomes]
rs801119	0.83[EUR][1000 genomes]
rs801122	0.82[EUR][1000 genomes]
rs801124	0.85[EUR][1000 genomes]
rs801126	1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9640306	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv1017980	chr7:140601863-140721368	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	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
3	nsv1026448	chr7:140636599-140716829	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1797438	chr7:140666808-140682332	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv520944	chr7:140673779-140679684	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2079829	TMEM178B	cis	Esophagus Mucosa	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140677600-140680400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:140677800-140681600	Weak transcription	Fetal Intestine Large	intestine
3	chr7:140678000-140680200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr7:140678200-140681600	Enhancers	Primary neutrophils fromperipheralblood	blood

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