Variant report

Variant	rs3844322
Chromosome Location	chr7:140673779-140673780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140673174..140674792-chr7:140679004..140681718,2	MCF-7	breast:
2	chr7:140672428..140674348-chr7:140681005..140683175,2	K562	blood:
3	chr7:140668526..140670352-chr7:140672310..140674813,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10243698	0.85[EUR][1000 genomes]
rs10271387	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279193	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1089265	0.83[EUR][1000 genomes]
rs1091374	1.00[ASN][1000 genomes]
rs1091557	0.83[EUR][1000 genomes]
rs12534351	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534354	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860481	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2079829	1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246738	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246740	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246741	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246742	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246743	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246744	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246745	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs246746	0.83[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]
rs38716	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38725	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38727	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38728	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38729	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38733	1.00[JPT][hapmap];0.81[TSI][hapmap]
rs38737	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38741	1.00[JPT][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs38743	1.00[JPT][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs4020017	1.00[ASN][1000 genomes]
rs4020018	1.00[ASN][1000 genomes]
rs4726134	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4726136	0.93[EUR][1000 genomes]
rs6949856	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950813	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71645926	1.00[ASN][1000 genomes]
rs7778860	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7782666	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787917	0.82[EUR][1000 genomes]
rs801096	1.00[ASN][1000 genomes]
rs801097	1.00[ASN][1000 genomes]
rs801118	0.83[EUR][1000 genomes]
rs801119	0.82[EUR][1000 genomes]
rs801124	0.83[EUR][1000 genomes]
rs801126	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs9640306	0.93[AMR][1000 genomes];1.00[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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs3844322	TMEM178B	cis	Esophagus Mucosa	GTEx
rs3844322	SVOPL	cis	cerebellum	SCAN
rs3844322	MRPS33	cis	cerebellum	SCAN
rs3844322	MRPS33	cis	parietal	SCAN
rs3844322	EPHA1	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140672000-140673800	Enhancers	Liver	Liver
2	chr7:140672400-140673800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr7:140672400-140673800	Enhancers	Placenta	Placenta
4	chr7:140672400-140674000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:140672600-140673800	Enhancers	Fetal Intestine Large	intestine
6	chr7:140672800-140673800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:140672800-140674000	Enhancers	Adipose Nuclei	Adipose
8	chr7:140672800-140674000	Enhancers	Fetal Intestine Small	intestine
9	chr7:140673000-140674000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr7:140673600-140674200	Enhancers	HepG2	liver

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