Variant report

Variant	rs12521448
Chromosome Location	chr5:126087120-126087121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs57073955	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798231	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv462442	chr5:125921768-126089190	Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv599662	chr5:125921768-126089190	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126078600-126094200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:126083600-126093000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:126084200-126088200	Enhancers	K562	blood
4	chr5:126084400-126087400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:126084800-126090200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:126084800-126094000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:126084800-126094200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:126085000-126087200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:126085000-126087400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr5:126085000-126088200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr5:126085200-126089200	Weak transcription	Primary B cells from cord blood	blood
12	chr5:126085200-126091200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:126085200-126093800	Weak transcription	Dnd41	blood
14	chr5:126086000-126087400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr5:126086600-126094200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:126087000-126097800	Enhancers	Primary monocytes fromperipheralblood	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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