Variant report

Variant	rs9601248
Chromosome Location	chr13:80169004-80169005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1932197	0.84[EUR][1000 genomes]
rs2783129	0.83[EUR][1000 genomes]
rs2783130	0.86[EUR][1000 genomes]
rs2876747	0.80[ASN][1000 genomes]
rs4141825	0.84[EUR][1000 genomes]
rs4885652	0.80[ASN][1000 genomes]
rs6563121	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7319427	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7994620	0.80[ASN][1000 genomes]
rs9545145	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9545146	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9545154	0.84[EUR][1000 genomes]
rs9545155	0.83[EUR][1000 genomes]
rs9545158	0.83[EUR][1000 genomes]
rs9574452	0.80[ASN][1000 genomes]
rs9574455	0.81[ASN][1000 genomes]
rs9601258	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1041994	chr13:80123596-80247708	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Major depressive disorder	23377640	GWAS catalog

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80164600-80169800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:80168400-80171600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:80168600-80177600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:80168600-80177600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:80168800-80169200	Weak transcription	NHEK	skin
6	chr13:80168800-80169800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:80169000-80169400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr13:80169000-80169400	Weak transcription	HMEC	breast
9	chr13:80169000-80169600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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

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