Variant report

Variant	rs4885947
Chromosome Location	chr13:53309144-53309145
allele	A/C
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:6)

rs_ID	r²[population]
rs17541350	1.00[AFR][1000 genomes]
rs34494025	1.00[AFR][1000 genomes]
rs4360822	1.00[AFR][1000 genomes]
rs4885420	1.00[AFR][1000 genomes]
rs4885964	0.94[AMR][1000 genomes]
rs62637607	1.00[AFR][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	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1047265	chr13:53173013-53311419	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv541776	chr13:53173013-53311419	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv3440613	chr13:53307609-53671072	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 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	chr13:53286800-53310800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:53298400-53310600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:53299000-53310400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr13:53303800-53311400	Weak transcription	Brain Anterior Caudate	brain
5	chr13:53306200-53310600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr13:53308600-53309200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr13:53309000-53309400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr13:53309000-53309600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr13:53309000-53309600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:53309000-53309600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
11	chr13:53309000-53309600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr13:53309000-53309600	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr13:53309000-53309600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr13:53309000-53309600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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

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