Variant report

Variant	rs2074025
Chromosome Location	chr7:116550456-116550457
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	chr7:116550385-116550711	HepG2	liver:	n/a	chr7:116550543-116550558
2	MAFF	chr7:116550397-116550642	K562	blood:	n/a	chr7:116550542-116550560
3	MAFF	chr7:116550392-116550729	HepG2	liver:	n/a	chr7:116550542-116550560
4	MAFK	chr7:116550417-116550696	IMR90	lung:	n/a	chr7:116550543-116550558
5	MAFK	chr7:116550432-116550611	Hela-S3	cervix:	n/a	chr7:116550543-116550558
6	MAFK	chr7:116550385-116550713	HepG2	liver:	n/a	chr7:116550543-116550558

No.	Distal block	Cell Line	Cell type
1	chr7:116549824..116552913-chr7:116592405..116594166,3	K562	blood:
2	7:115890993-115892266..7:116547624-116551247	GM12878	blood:
3	7:116547624-116551247..7:116754962-116765597	GM12878	blood:

Variant related genes	Relation type
ENSG00000252115	TF binding region
ENSG00000214188	Chromatin interaction
ENSG00000004866	Chromatin interaction
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11977452	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12537143	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12665999	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12666016	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2214168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947485	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778381	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7800249	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7803820	0.83[EUR][1000 genomes]
rs7807976	0.82[EUR][1000 genomes]
rs9649395	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9649396	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9649397	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9791495	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][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	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2074025	MET	cis	Artery Aorta	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116503800-116554400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:116506000-116554600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:116511400-116554600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:116515400-116559200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:116516800-116551200	Weak transcription	Brain Angular Gyrus	brain
6	chr7:116517200-116554600	Weak transcription	Esophagus	oesophagus
7	chr7:116517600-116556600	Weak transcription	Psoas Muscle	Psoas
8	chr7:116520000-116551200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:116525800-116551200	Weak transcription	Thymus	Thymus
10	chr7:116525800-116554600	Weak transcription	Aorta	Aorta
11	chr7:116525800-116558400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:116525800-116559400	Weak transcription	Colonic Mucosa	Colon
13	chr7:116526200-116551200	Weak transcription	Small Intestine	intestine
14	chr7:116526600-116553600	Weak transcription	Right Ventricle	heart
15	chr7:116526800-116554600	Weak transcription	Gastric	stomach
16	chr7:116526800-116559400	Weak transcription	Stomach Mucosa	stomach
17	chr7:116527000-116560600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:116531400-116550600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:116532000-116551200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr7:116532000-116559600	Strong transcription	HSMM	muscle
21	chr7:116534400-116551800	Weak transcription	Fetal Stomach	stomach
22	chr7:116535600-116552000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:116537600-116551200	Weak transcription	Brain Germinal Matrix	brain
24	chr7:116537800-116551400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:116538000-116559600	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr7:116538200-116562400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:116538400-116551200	Weak transcription	NHEK	skin
28	chr7:116538600-116554200	Weak transcription	Spleen	Spleen
29	chr7:116538600-116559400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:116539400-116555000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:116540200-116551200	Weak transcription	Hela-S3	cervix
32	chr7:116540400-116559800	Strong transcription	Fetal Thymus	thymus
33	chr7:116540600-116551200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:116541200-116551000	Weak transcription	Pancreas	Pancrea
35	chr7:116541400-116550600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:116541400-116551600	Weak transcription	Brain Substantia Nigra	brain
37	chr7:116541600-116551000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr7:116542600-116551600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr7:116542800-116551200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:116543000-116551200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:116543000-116559000	Strong transcription	HUVEC	blood vessel
42	chr7:116543000-116560800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr7:116543200-116559600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:116543200-116559600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr7:116543200-116562400	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr7:116543400-116553400	Strong transcription	Primary B cells from cord blood	blood
47	chr7:116543600-116553000	Strong transcription	Primary T cells from cord blood	blood
48	chr7:116543600-116559200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:116543800-116561400	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr7:116544000-116550600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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