Variant report

Variant	rs1191804
Chromosome Location	chr2:20220136-20220137
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10165208	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1147119	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694716	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1191819	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1191821	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1191822	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1849601	0.81[ASN][1000 genomes]
rs1870922	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4666355	0.82[ASN][1000 genomes]
rs6760839	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7560747	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7585694	0.83[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1191804	MATN3	cis	Artery Tibial	GTEx
rs1191804	MATN3	cis	Esophagus Muscularis	GTEx
rs1191804	MATN3	cis	Artery Aorta	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20213000-20220600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:20213000-20227200	Weak transcription	Ovary	ovary
3	chr2:20213200-20225000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:20213200-20227000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:20213200-20227000	Weak transcription	Aorta	Aorta
6	chr2:20213400-20227400	Weak transcription	Fetal Kidney	kidney
7	chr2:20213400-20232200	Weak transcription	Right Ventricle	heart
8	chr2:20213600-20227000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:20214800-20220200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:20216400-20227800	Weak transcription	Fetal Intestine Large	intestine
11	chr2:20216400-20228800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:20216600-20220400	Weak transcription	HepG2	liver
13	chr2:20216800-20224800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:20217400-20220400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:20219400-20227000	Weak transcription	Left Ventricle	heart
16	chr2:20220000-20221200	Weak transcription	Stomach Smooth Muscle	stomach

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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