Variant report

Variant	rs1367230
Chromosome Location	chr2:56076451-56076452
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11674409	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11687955	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11694213	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17047262	0.93[ASN][1000 genomes]
rs17278665	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4671262	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs55979030	0.82[EUR][1000 genomes]
rs6545528	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6545529	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726181	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs72807749	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72807754	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565703	0.98[ASN][1000 genomes]
rs7582381	0.98[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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56066800-56082600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:56070600-56078400	Weak transcription	Ovary	ovary
3	chr2:56071400-56084000	Weak transcription	HSMM	muscle
4	chr2:56071600-56077200	Weak transcription	Hela-S3	cervix
5	chr2:56071600-56082600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:56071600-56082600	Weak transcription	NHEK	skin
7	chr2:56071600-56086800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:56071800-56084000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:56072000-56082800	Weak transcription	Osteobl	bone
10	chr2:56075400-56077400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:56075600-56077000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:56075800-56077600	Weak transcription	NHLF	lung
13	chr2:56076000-56077000	Weak transcription	A549	lung

Quick Search:

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

what's new

Quick links