Variant report

Variant	rs7560747
Chromosome Location	chr2:20263847-20263848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20251381..20253621-chr2:20263312..20265245,2	K562	blood:
2	chr2:20263163..20266090-chr2:20292667..20294337,2	MCF-7	breast:
3	chr2:20252121..20254542-chr2:20263523..20265245,3	K562	blood:
4	chr2:20263567..20266524-chr2:20270563..20273787,4	K562	blood:
5	chr2:20262539..20265067-chr2:20270708..20273020,3	K562	blood:
6	chr2:20214721..20216712-chr2:20262631..20264995,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LAPTM4A-2	chr2:20263617-20264272	XLOC_002008

No data

Variant related genes	Relation type
ENSG00000068697	Chromatin interaction
ENSG00000223734	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10165208	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147119	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1191804	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1191819	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1191821	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1191822	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1849601	0.87[ASN][1000 genomes]
rs1849602	0.85[ASN][1000 genomes]
rs1870922	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666355	0.88[ASN][1000 genomes]
rs6760839	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585694	0.89[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7560747	MATN3	cis	Esophagus Muscularis	GTEx
rs7560747	MATN3	cis	Artery Aorta	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20252400-20266000	Weak transcription	Pancreas	Pancrea
2	chr2:20253200-20264400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:20260600-20264200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:20260600-20266600	Enhancers	Fetal Muscle Leg	muscle
5	chr2:20261400-20265600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:20261800-20266800	Enhancers	Placenta	Placenta
7	chr2:20262000-20265600	Enhancers	HepG2	liver
8	chr2:20262200-20265600	Weak transcription	Colonic Mucosa	Colon
9	chr2:20262200-20265800	Weak transcription	Right Ventricle	heart
10	chr2:20262400-20264000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:20262600-20265600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:20262800-20264000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:20262800-20264800	Weak transcription	HSMMtube	muscle
14	chr2:20262800-20265600	Weak transcription	Adipose Nuclei	Adipose
15	chr2:20262800-20265600	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:20262800-20265600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:20262800-20265600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:20262800-20267600	Weak transcription	Fetal Kidney	kidney
19	chr2:20262800-20267600	Weak transcription	Fetal Lung	lung
20	chr2:20263200-20265800	Weak transcription	Fetal Stomach	stomach
21	chr2:20263200-20265800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:20263400-20264400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:20263400-20265600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:20263400-20265600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:20263400-20265600	Weak transcription	HSMM	muscle
26	chr2:20263400-20265600	Weak transcription	Osteobl	bone
27	chr2:20263400-20265800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:20263400-20266600	Enhancers	Fetal Muscle Trunk	muscle
29	chr2:20263600-20264200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:20263600-20265800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:20263800-20264000	Enhancers	Rectal Smooth Muscle	rectum
32	chr2:20263800-20264200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:20263800-20264400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links