Variant report

Variant	rs59853482
Chromosome Location	chr5:53284700-53284701
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:11)

rs_ID	r²[population]
rs10471883	1.00[ASN][1000 genomes]
rs13172689	1.00[ASN][1000 genomes]
rs17413044	1.00[ASN][1000 genomes]
rs28491265	1.00[ASN][1000 genomes]
rs28602514	1.00[ASN][1000 genomes]
rs35105742	1.00[ASN][1000 genomes]
rs3846492	1.00[ASN][1000 genomes]
rs58977090	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60870315	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66541213	1.00[ASN][1000 genomes]
rs6883658	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1032504	chr5:52908394-53398435	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv537763	chr5:52908394-53398435	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv880713	chr5:53198059-53906103	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv830299	chr5:53207020-53386600	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53253600-53294800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:53255600-53286200	Weak transcription	Fetal Intestine Large	intestine
3	chr5:53256800-53310000	Weak transcription	Primary T cells from cord blood	blood
4	chr5:53281200-53290000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:53281400-53285800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:53281400-53289200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:53282000-53285600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:53282000-53290000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:53282400-53286400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:53282600-53286200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:53283000-53289200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:53283600-53289600	Weak transcription	NHDF-Ad	bronchial
13	chr5:53284000-53289600	Weak transcription	Fetal Intestine Small	intestine
14	chr5:53284200-53285200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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dbSNP/dbVar ID: rs12345 /nsv7879
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