Variant report

Variant	rs11618521
Chromosome Location	chr13:50368151-50368152
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
KPNA3	TF binding region
ENSG00000166881	Chromatin interaction
ENSG00000123179	Chromatin interaction
ENSG00000102753	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9535343	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	nsv900072	chr13:50266109-50381016	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv900073	chr13:50286218-50381016	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv1818134	chr13:50306897-50374102	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv900074	chr13:50317104-50381016	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv900075	chr13:50331992-50376858	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	esv3421253	chr13:50364151-50368649	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11618521	KPNA3	Cis_1M	lymphoblastoid	RTeQTL
rs11618521	EBPL	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50367600-50369200	Enhancers	K562	blood
2	chr13:50367800-50368200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:50367800-50368200	Enhancers	Primary B cells from peripheral blood	blood
4	chr13:50367800-50368200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr13:50367800-50368200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr13:50367800-50368200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr13:50367800-50368200	Enhancers	Pancreas	Pancrea
8	chr13:50367800-50368200	Enhancers	Hela-S3	cervix
9	chr13:50367800-50368400	Enhancers	HepG2	liver
10	chr13:50367800-50368800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr13:50368000-50368200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr13:50368000-50368200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr13:50368000-50368200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr13:50368000-50368200	Active TSS	Duodenum Mucosa	Duodenum
15	chr13:50368000-50368200	Enhancers	Dnd41	blood
16	chr13:50368000-50368600	Enhancers	Placenta	Placenta
17	chr13:50368000-50369000	Weak transcription	Fetal Thymus	thymus
18	chr13:50368000-50372600	Weak transcription	Spleen	Spleen

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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