Variant report

Variant	rs73240789
Chromosome Location	chr5:118399136-118399137
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118398187..118399775-chr5:118406820..118408507,2	MCF-7	breast:
2	chr5:118396867..118401379-chr5:118402129..118406971,7	K562	blood:
3	chr5:118397443..118401188-chr5:118403593..118406456,7	K562	blood:

Variant related genes	Relation type
ENSG00000249494	Chromatin interaction
ENSG00000172869	Chromatin interaction
ENSG00000239011	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2197797	1.00[EUR][1000 genomes]
rs56777416	1.00[EUR][1000 genomes]
rs58506278	1.00[EUR][1000 genomes]
rs59560401	1.00[EUR][1000 genomes]
rs60943459	1.00[EUR][1000 genomes]
rs6881087	1.00[EUR][1000 genomes]
rs73240756	1.00[EUR][1000 genomes]
rs73240769	1.00[EUR][1000 genomes]
rs73240798	1.00[EUR][1000 genomes]
rs73240800	1.00[EUR][1000 genomes]
rs73242924	1.00[EUR][1000 genomes]
rs73242936	1.00[EUR][1000 genomes]
rs73242938	1.00[EUR][1000 genomes]
rs73242944	1.00[EUR][1000 genomes]
rs73242969	1.00[EUR][1000 genomes]
rs73242972	1.00[EUR][1000 genomes]
rs73242991	1.00[EUR][1000 genomes]
rs73244806	1.00[EUR][1000 genomes]
rs73244821	1.00[EUR][1000 genomes]
rs73247063	1.00[EUR][1000 genomes]
rs7712826	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	esv3392804	chr5:118398003-118400001	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
6	esv3371918	chr5:118398503-118399651	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118386000-118399200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:118386600-118399200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:118386600-118399200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:118386600-118399400	Weak transcription	HSMMtube	muscle
5	chr5:118396000-118399200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:118396000-118405600	Weak transcription	Primary B cells from cord blood	blood
7	chr5:118396400-118399200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr5:118396600-118399200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:118397000-118399200	Weak transcription	K562	blood
10	chr5:118399000-118399200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:118399000-118399200	Enhancers	GM12878-XiMat	blood
12	chr5:118399000-118399200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr5:118399000-118400200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr5:118399000-118400200	Enhancers	Duodenum Mucosa	Duodenum
15	chr5:118399000-118400200	Enhancers	HepG2	liver

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