Variant report

Variant	rs72950353
Chromosome Location	chr2:113481521-113481522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113480533..113482697-chr2:113482909..113484492,2	K562	blood:
2	chr2:113477140..113479132-chr2:113479406..113481880,2	K562	blood:
3	chr2:113380065..113382456-chr2:113480700..113483703,3	MCF-7	breast:
4	chr2:113401788..113407326-chr2:113480776..113487899,15	MCF-7	breast:
5	chr2:113475474..113478098-chr2:113481097..113483249,3	MCF-7	breast:
6	chr2:113401688..113406035-chr2:113480430..113485744,11	MCF-7	breast:
7	chr2:113401171..113414378-chr2:113468812..113486672,46	K562	blood:
8	chr2:113340774..113345524-chr2:113480391..113485957,9	MCF-7	breast:
9	chr2:113298665..113301106-chr2:113481233..113484131,2	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000237753	Chromatin interaction
ENSG00000125630	Chromatin interaction
ENSG00000144130	Chromatin interaction
ENSG00000125611	Chromatin interaction
ENSG00000144136	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs60696592	1.00[AMR][1000 genomes]
rs61134068	1.00[AMR][1000 genomes]
rs61677777	1.00[AMR][1000 genomes]
rs72954024	1.00[AMR][1000 genomes]
rs72954033	1.00[AMR][1000 genomes]
rs72954034	1.00[AMR][1000 genomes]
rs72954038	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv526301	chr2:113451498-113495785	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	esv3458160	chr2:113460280-113484749	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	esv3458161	chr2:113460322-113484724	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	esv3458162	chr2:113460460-113484652	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv525790	chr2:113479614-113481547	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113464200-113486400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:113469400-113484200	Weak transcription	Right Atrium	heart
3	chr2:113472400-113483000	Weak transcription	Spleen	Spleen
4	chr2:113475600-113481800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:113477600-113487000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr2:113478200-113481800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:113478400-113481800	Weak transcription	Placenta	Placenta
8	chr2:113478400-113483800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:113478600-113488200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:113479000-113482200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr2:113479400-113482200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:113479400-113485200	Enhancers	K562	blood
13	chr2:113480000-113481600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:113480000-113488200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:113480600-113482000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:113481000-113482000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:113481200-113481800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:113481200-113487600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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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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