Variant report

Variant	rs514993
Chromosome Location	chr9:101125148-101125149
allele	C/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:13)

rs_ID	r²[population]
rs497337	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs497371	1.00[JPT][hapmap]
rs518655	1.00[JPT][hapmap]
rs552989	0.82[GIH][hapmap]
rs553139	0.94[GIH][hapmap];1.00[JPT][hapmap]
rs583115	1.00[JPT][hapmap]
rs583641	1.00[JPT][hapmap]
rs625500	1.00[JPT][hapmap]
rs62574359	0.91[AFR][1000 genomes]
rs644842	0.82[GIH][hapmap];1.00[JPT][hapmap]
rs661105	0.82[GIH][hapmap]
rs661532	0.82[GIH][hapmap]
rs774342	1.00[JPT][hapmap]

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	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv831664	chr9:101024862-101205637	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101118800-101127400	Weak transcription	Brain Germinal Matrix	brain
2	chr9:101118800-101127400	Weak transcription	Fetal Brain Female	brain
3	chr9:101120600-101134400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr9:101121200-101126600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr9:101123200-101127400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr9:101124000-101125800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:101124000-101127000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:101124800-101125400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:101125000-101125200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:101125000-101125800	Enhancers	H1 BMP4 Derived Mesendoderm 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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