Variant report

Variant	rs2063918
Chromosome Location	chr2:113478889-113478890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
NT5DC4	TF binding region
ENSG00000144130	Chromatin interaction
ENSG00000144136	Chromatin interaction
ENSG00000237753	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10176689	1.00[EUR][1000 genomes]
rs10181385	1.00[EUR][1000 genomes]
rs10183049	1.00[EUR][1000 genomes]
rs1143626	1.00[EUR][1000 genomes]
rs1143641	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs13424846	1.00[EUR][1000 genomes]
rs4849116	1.00[EUR][1000 genomes]
rs60696592	1.00[EUR][1000 genomes]
rs61134068	1.00[EUR][1000 genomes]
rs61677777	1.00[EUR][1000 genomes]
rs72950372	1.00[EUR][1000 genomes]
rs72954024	1.00[EUR][1000 genomes]
rs72954033	1.00[EUR][1000 genomes]
rs72954034	1.00[EUR][1000 genomes]
rs72954038	1.00[EUR][1000 genomes]
rs7591401	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv2756942	chr2:113469235-113478889	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv2759084	chr2:113469235-113478889	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 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	chr2:113471400-113479200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:113472400-113483000	Weak transcription	Spleen	Spleen
5	chr2:113475600-113481800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:113477600-113479200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:113477600-113479600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:113477600-113487000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:113478000-113479000	Enhancers	Primary B cells from peripheral blood	blood
10	chr2:113478000-113479400	Flanking Active TSS	K562	blood
11	chr2:113478200-113481800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:113478400-113481800	Weak transcription	Placenta	Placenta
13	chr2:113478400-113483800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:113478600-113488200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:113478800-113481000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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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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