Variant report

Variant	rs2293700
Chromosome Location	chr19:35996380-35996381
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr19:35996326-35996449	HepG2	liver:	n/a	chr19:35996374-35996394 chr19:35996376-35996392 chr19:35996377-35996391

No.	Distal block	Cell Line	Cell type
1	chr19:35988445..35991063-chr19:35995324..35997117,2	MCF-7	breast:
2	chr19:35739927..35742259-chr19:35996033..35997931,2	K562	blood:
3	chr19:35995813..35998806-chr19:36034712..36037823,4	MCF-7	breast:
4	chr19:35991484..35996459-chr19:35997926..36003071,7	MCF-7	breast:

Variant related genes	Relation type
DMKN	TF binding region
ENSG00000161249	Chromatin interaction
ENSG00000105699	Chromatin interaction
ENSG00000236144	Chromatin interaction
ENSG00000105677	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11671004	0.82[MEX][hapmap]
rs2293693	0.84[CHD][hapmap]
rs2293694	0.91[CHD][hapmap];0.82[MEX][hapmap]
rs2293695	0.85[CHD][hapmap]
rs6510492	0.84[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.90[ASN][1000 genomes]
rs6510494	0.91[ASN][1000 genomes]
rs7245699	0.86[MEX][hapmap]

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	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv833811	chr19:35850257-36029535	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2293700	CYP2B6	cis	cerebellum	SCAN
rs2293700	POU2F2	cis	cerebellum	SCAN
rs2293700	LRFN1	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35986400-35999600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:35986400-36000000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:35986400-36000600	Weak transcription	Right Atrium	heart
4	chr19:35986800-35996400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:35986800-36000200	Weak transcription	Gastric	stomach
6	chr19:35986800-36000400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr19:35987800-35998200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:35988000-35998800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr19:35988000-35999000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr19:35988000-35999200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr19:35988200-35996600	Strong transcription	Fetal Intestine Small	intestine
12	chr19:35988200-35997800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:35988200-35998400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr19:35988200-35999000	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr19:35988800-35998600	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr19:35989400-35997600	Strong transcription	Pancreas	Pancrea
17	chr19:35989400-35998800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
18	chr19:35989600-35999200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr19:35990200-35997000	Weak transcription	Fetal Intestine Large	intestine
20	chr19:35990200-36000400	Weak transcription	Lung	lung
21	chr19:35991000-36000200	Weak transcription	Ovary	ovary
22	chr19:35991200-36000200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:35992200-36000400	Weak transcription	Aorta	Aorta
24	chr19:35992800-35999000	Weak transcription	Hela-S3	cervix
25	chr19:35993200-35997000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:35993200-35997200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:35993200-35999200	Strong transcription	HMEC	breast
28	chr19:35993200-35999400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr19:35993200-35999600	Weak transcription	Brain Anterior Caudate	brain
30	chr19:35993400-36000000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:35993400-36000200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr19:35994000-35999000	Strong transcription	NHEK	skin
33	chr19:35994000-35999200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:35994200-35998600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:35994800-35999200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr19:35995200-35997200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
37	chr19:35995800-35996400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:35996000-35996400	Strong transcription	HepG2	liver
39	chr19:35996200-35996400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr19:35996200-35998400	Weak transcription	Esophagus	oesophagus
41	chr19:35996200-35999000	Enhancers	GM12878-XiMat	blood

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