Variant report

Variant	rs621221
Chromosome Location	chr13:52409237-52409238
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10220242	0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs12584414	0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs12585859	0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs4941713	0.92[ASN][1000 genomes]
rs4943028	0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs56401568	0.88[ASN][1000 genomes]
rs7992588	0.81[CHB][hapmap]
rs8002015	0.90[CEU][hapmap];0.84[GIH][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs878936	0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs9535767	0.90[JPT][hapmap]
rs9591433	0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs9596586	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs9596587	0.81[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs9634846	0.95[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs975504	0.81[CHB][hapmap]

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	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv933424	chr13:52293482-52507732	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv900081	chr13:52406404-52426096	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52393600-52418600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:52401600-52419200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr13:52402800-52412800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:52404400-52410200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr13:52404800-52413800	Weak transcription	Fetal Intestine Small	intestine
6	chr13:52406600-52414200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr13:52407600-52409400	Enhancers	Primary B cells from cord blood	blood
8	chr13:52408600-52409400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr13:52408600-52409400	Enhancers	Fetal Muscle Leg	muscle
10	chr13:52409000-52411200	Weak transcription	Primary T cells from cord blood	blood
11	chr13:52409200-52410200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr13:52409200-52410200	Weak transcription	Brain Anterior Caudate	brain
13	chr13:52409200-52411000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr13:52409200-52411000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr13:52409200-52419200	Weak transcription	Right Atrium	heart

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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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