Variant report

Variant	rs57330847
Chromosome Location	chr5:90338248-90338249
allele	C/G
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:13)

rs_ID	r²[population]
rs56072107	1.00[AMR][1000 genomes]
rs56380505	1.00[AMR][1000 genomes]
rs57931656	1.00[AMR][1000 genomes]
rs58577202	1.00[AMR][1000 genomes]
rs58675622	1.00[AMR][1000 genomes]
rs59760061	1.00[AMR][1000 genomes]
rs61195095	1.00[AMR][1000 genomes]
rs73771169	1.00[AMR][1000 genomes]
rs73771171	1.00[AMR][1000 genomes]
rs73771174	1.00[AMR][1000 genomes]
rs73771177	1.00[AMR][1000 genomes]
rs73771178	1.00[AMR][1000 genomes]
rs73771179	1.00[AMR][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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv882369	chr5:90275825-90344149	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90324600-90350400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:90334400-90338800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:90334600-90338800	Weak transcription	Adipose Nuclei	Adipose
4	chr5:90335000-90340600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:90335000-90340800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:90335000-90344000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:90335200-90344000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:90335400-90338600	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:90335400-90338600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:90335400-90340600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:90337600-90338800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:90337600-90339400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr5:90337600-90339400	Enhancers	Fetal Intestine Large	intestine
14	chr5:90337600-90339600	Enhancers	Fetal Intestine Small	intestine
15	chr5:90337600-90339800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:90337600-90339800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:90337800-90339400	Enhancers	Primary hematopoietic stem cells	blood
18	chr5:90338000-90338800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr5:90338000-90339400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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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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