Variant report

Variant	rs73926800
Chromosome Location	chr2:47481205-47481206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55884002	0.81[AFR][1000 genomes]
rs58297888	0.85[AFR][1000 genomes]
rs58913423	0.85[AFR][1000 genomes]
rs73926783	1.00[AMR][1000 genomes]
rs73926784	1.00[AMR][1000 genomes]
rs73926792	1.00[AMR][1000 genomes]
rs73926793	1.00[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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv457385	chr2:47468331-47552277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv581755	chr2:47468331-47552277	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	9 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	chr2:47476600-47483800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:47476800-47483600	Weak transcription	A549	lung
3	chr2:47477000-47483400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:47477000-47483400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:47477000-47491400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:47477200-47491200	Weak transcription	Brain Anterior Caudate	brain
7	chr2:47478000-47483600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:47478200-47483600	Weak transcription	NH-A	brain
9	chr2:47478600-47483800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:47478800-47487400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:47478800-47496400	Weak transcription	Hela-S3	cervix
12	chr2:47479400-47481400	Enhancers	Fetal Intestine Large	intestine
13	chr2:47479600-47482400	Enhancers	Fetal Intestine Small	intestine
14	chr2:47480000-47486600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:47480400-47481400	Bivalent Enhancer	HepG2	liver
16	chr2:47481200-47482000	Enhancers	Primary B cells from cord blood	blood
17	chr2:47481200-47482200	Enhancers	Primary B cells from peripheral blood	blood
18	chr2:47481200-47482200	Enhancers	GM12878-XiMat	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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