Variant report

Variant	rs59000401
Chromosome Location	chr2:40713912-40713913
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2301340	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2301341	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2373886	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4952416	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4952628	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4952631	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59420415	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59984752	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs71439301	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72936449	0.86[ASN][1000 genomes]
rs72936451	0.89[ASN][1000 genomes]
rs7607870	0.85[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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873917	chr2:40710953-41015998	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40703600-40716400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:40705400-40714800	Weak transcription	Right Atrium	heart
3	chr2:40705600-40714400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:40707200-40714800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:40707200-40715400	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr2:40708000-40716000	Weak transcription	Psoas Muscle	Psoas
7	chr2:40711000-40715400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:40711400-40714200	Enhancers	Fetal Heart	heart
9	chr2:40711600-40716200	Weak transcription	Left Ventricle	heart
10	chr2:40712000-40716000	Weak transcription	Aorta	Aorta
11	chr2:40712400-40716400	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr2:40713200-40714800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:40713400-40714200	Weak transcription	Colon Smooth Muscle	Colon

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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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