Variant report

Variant	rs924229
Chromosome Location	chr2:47487984-47487985
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13411522	1.00[MEX][hapmap]
rs1811664	0.82[AMR][1000 genomes]
rs28556964	1.00[MEX][hapmap]
rs6737783	1.00[MEX][hapmap]
rs7598848	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs919878	1.00[MEX][hapmap]

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	chr2:47477000-47491400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:47477200-47491200	Weak transcription	Brain Anterior Caudate	brain
3	chr2:47478800-47496400	Weak transcription	Hela-S3	cervix
4	chr2:47482400-47489400	Weak transcription	Fetal Intestine Small	intestine
5	chr2:47482400-47491400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:47483800-47492000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:47484200-47491200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:47484200-47491600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:47485200-47491200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:47485200-47491200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:47485200-47491400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:47485200-47491400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:47485600-47491200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:47487200-47488400	Enhancers	Spleen	Spleen
15	chr2:47487400-47489400	Weak transcription	K562	blood
16	chr2:47487400-47491600	Weak transcription	Stomach Mucosa	stomach
17	chr2:47487600-47488000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:47487800-47488200	Enhancers	Placenta	Placenta

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

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