Variant report

Variant	rs2496468
Chromosome Location	chr13:38915870-38915871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:38913197..38918401-chr13:38928849..38932713,4	K562	blood:
2	chr13:38915558..38922004-chr13:38925835..38933064,8	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1011484	1.00[ASN][1000 genomes]
rs10507469	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10507470	1.00[ASN][1000 genomes]
rs1590952	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17057710	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17057848	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17057900	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2019516	1.00[ASN][1000 genomes]
rs2173948	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231320	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231335	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231336	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2455408	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2455413	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481887	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481888	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481892	1.00[ASN][1000 genomes]
rs2485779	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56306542	1.00[ASN][1000 genomes]
rs7322186	1.00[ASN][1000 genomes]
rs73460283	1.00[ASN][1000 genomes]
rs74047550	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74047551	1.00[EUR][1000 genomes]
rs74047552	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74047553	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74047554	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9532217	1.00[ASN][1000 genomes]
rs9548328	1.00[ASN][1000 genomes]
rs9888482	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	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv869125	chr13:38550449-39132813	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949406	chr13:38561474-39033484	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv561512	chr13:38881318-38930893	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv900005	chr13:38881318-38932949	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3397337	chr13:38914852-38918050	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38902800-38919600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:38910800-38920200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr13:38911000-38920200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr13:38913600-38920200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr13:38915200-38916200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr13:38915800-38920200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr13:38915800-38922400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr13:38915800-38922800	Weak transcription	Stomach Mucosa	stomach

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