Variant report

Variant	rs11977452
Chromosome Location	chr7:116505381-116505382
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:116501242..116506265-chr7:116510058..116522773,18	MCF-7	breast:
2	chr7:116501910..116504088-chr7:116504154..116506908,3	K562	blood:
3	7:115847372-115857098..7:116505133-116506006	GM12878	blood:
4	chr7:116502166..116506934-chr7:116591377..116594260,5	MCF-7	breast:
5	chr7:116366893..116368535-chr7:116504470..116506791,2	MCF-7	breast:
6	7:115861595-115870968..7:116505133-116506006	GM12878	blood:

Variant related genes	Relation type
ENSG00000235945	Chromatin interaction
ENSG00000214188	Chromatin interaction
ENSG00000135269	Chromatin interaction
ENSG00000198898	Chromatin interaction
ENSG00000004866	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12537143	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12665999	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12666016	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2074025	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2214168	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6947485	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7778381	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7800249	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9649395	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9649396	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9649397	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9791495	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[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
rs11977452	MET	cis	Artery Aorta	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116503000-116506000	Active TSS	Right Atrium	heart
2	chr7:116503800-116505600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:116503800-116506000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:116503800-116509800	Weak transcription	Spleen	Spleen
5	chr7:116503800-116510400	Weak transcription	Gastric	stomach
6	chr7:116503800-116554400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:116504000-116506000	Enhancers	Primary B cells from peripheral blood	blood
8	chr7:116504000-116506000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr7:116504000-116506600	Weak transcription	Stomach Mucosa	stomach
10	chr7:116504000-116510600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:116504000-116512800	Weak transcription	Placenta	Placenta
12	chr7:116504000-116514000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:116504000-116514800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:116504000-116515000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:116504200-116505600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:116504200-116505600	Weak transcription	Lung	lung
17	chr7:116504200-116505800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:116504200-116506000	Enhancers	Primary B cells from cord blood	blood
19	chr7:116504200-116506000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr7:116504200-116510000	Weak transcription	Pancreas	Pancrea
21	chr7:116504200-116516800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:116504200-116516800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:116504200-116516800	Weak transcription	Esophagus	oesophagus
24	chr7:116504400-116505400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:116504400-116505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:116504400-116505800	Enhancers	Brain Angular Gyrus	brain
27	chr7:116504400-116505800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr7:116504400-116506200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr7:116504400-116508000	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr7:116504400-116508200	Enhancers	Primary T cells from cord blood	blood
31	chr7:116504400-116508400	Enhancers	Colon Smooth Muscle	Colon
32	chr7:116504400-116509400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:116504400-116509600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:116504400-116510600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:116504400-116510600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:116504400-116511800	Weak transcription	Colonic Mucosa	Colon
37	chr7:116504400-116514000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:116504400-116514200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr7:116504400-116514600	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr7:116504400-116515200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr7:116504400-116528800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr7:116504400-116533000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:116504600-116505400	Enhancers	Rectal Smooth Muscle	rectum
44	chr7:116504600-116505600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:116504600-116506200	Enhancers	A549	lung
46	chr7:116504600-116507400	Weak transcription	Small Intestine	intestine
47	chr7:116504600-116507800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:116504600-116507800	Enhancers	Fetal Heart	heart
49	chr7:116504600-116508000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr7:116504600-116509600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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