Variant report

Variant	rs73240763
Chromosome Location	chr5:118366396-118366397
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:10)

rs_ID	r²[population]
rs11950037	0.85[AMR][1000 genomes]
rs11953628	0.85[AMR][1000 genomes]
rs28667211	0.85[AMR][1000 genomes]
rs6595171	0.85[AMR][1000 genomes]
rs73240737	0.85[AMR][1000 genomes]
rs73240765	0.85[AMR][1000 genomes]
rs73240772	0.85[AMR][1000 genomes]
rs73240782	0.85[AMR][1000 genomes]
rs7341052	0.85[AMR][1000 genomes]
rs7705263	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes]

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	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1015878	chr5:118288904-118414706	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv537881	chr5:118288904-118414706	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1018539	chr5:118355284-118445244	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118355200-118367600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:118363400-118366600	Enhancers	Primary B cells from cord blood	blood
3	chr5:118363800-118366800	Enhancers	Primary B cells from peripheral blood	blood
4	chr5:118364000-118366600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:118364200-118366600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:118366000-118366600	Enhancers	Dnd41	blood
7	chr5:118366000-118366800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:118366000-118368000	Enhancers	Primary T cells from cord blood	blood
9	chr5:118366000-118369200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:118366000-118369200	Flanking Active TSS	GM12878-XiMat	blood
11	chr5:118366200-118368000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr5:118366200-118369400	Enhancers	Fetal Thymus	thymus

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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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