Variant report

Variant	rs62163300
Chromosome Location	chr2:111805853-111805854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs3789071	0.86[EUR][1000 genomes]
rs62163299	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6713744	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6717763	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7563010	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7602030	0.83[AMR][1000 genomes];0.93[EUR][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	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62163300	MARCKSL1	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111787800-111825400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:111797800-111806600	Weak transcription	Fetal Kidney	kidney
3	chr2:111801200-111807600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:111801600-111807400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr2:111801800-111806800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr2:111802000-111807000	Weak transcription	Primary B cells from cord blood	blood
7	chr2:111802800-111806600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:111803600-111806800	Weak transcription	Primary T cells from cord blood	blood
9	chr2:111804000-111807000	Weak transcription	Fetal Thymus	thymus
10	chr2:111804600-111806600	Weak transcription	Pancreas	Pancrea
11	chr2:111804600-111808400	Enhancers	Fetal Intestine Small	intestine
12	chr2:111804800-111808400	Enhancers	Fetal Intestine Large	intestine
13	chr2:111805800-111807000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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