Variant report

Variant	rs7240380
Chromosome Location	chr18:29399192-29399193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12326244	1.00[CHB][hapmap]
rs12327141	1.00[CHB][hapmap]
rs12956638	1.00[CHB][hapmap]
rs12959996	1.00[CHB][hapmap]
rs12962411	0.97[ASN][1000 genomes]
rs12963424	1.00[CHB][hapmap]
rs2035418	1.00[CHB][hapmap]
rs34426932	0.97[ASN][1000 genomes]
rs34465567	0.97[ASN][1000 genomes]
rs35740471	1.00[ASN][1000 genomes]
rs35887095	0.97[ASN][1000 genomes]
rs60589551	0.97[ASN][1000 genomes]
rs7244508	1.00[CHB][hapmap]
rs9807439	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1057229	chr18:29335175-29514265	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv2247	chr18:29370842-29415712	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29388800-29401800	Weak transcription	Right Atrium	heart
2	chr18:29390200-29401400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:29392000-29405200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:29394400-29418200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr18:29398400-29399600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr18:29399000-29399400	Enhancers	H9 Cell Line	embryonic stem cell
7	chr18:29399000-29400000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr18:29399000-29400200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr18:29399000-29400200	Enhancers	HUES48 Cell Line	embryonic stem cell

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

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