Variant report

Variant	rs7988018
Chromosome Location	chr13:55307266-55307267
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1351171	0.83[EUR][1000 genomes]
rs17089790	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2447967	0.83[EUR][1000 genomes]
rs2493670	0.83[EUR][1000 genomes]
rs2493671	0.83[EUR][1000 genomes]
rs2898094	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55698504	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59143172	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61003525	0.92[EUR][1000 genomes]
rs61111880	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7317465	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73189563	0.97[EUR][1000 genomes]
rs73193786	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73195519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7991935	1.00[CHD][hapmap]
rs7993487	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7995960	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917186	chr13:55022134-55433232	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv561702	chr13:55086271-55808127	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1048599	chr13:55143426-55476042	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1051640	chr13:55143426-55478547	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv561703	chr13:55143754-55473732	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv916104	chr13:55154006-55433232	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1052745	chr13:55159674-55459161	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv541779	chr13:55159674-55459161	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv32904	chr13:55305891-55308489	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:55306400-55309000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr13:55306600-55308000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr13:55306800-55307400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:55306800-55308000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:55307000-55307600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:55307200-55307800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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