Variant report

Variant	rs1323118
Chromosome Location	chr13:53459607-53459608
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11617253	0.88[EUR][1000 genomes]
rs12100313	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12100317	0.88[EUR][1000 genomes]
rs1274580	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1274581	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1274582	0.82[ASN][1000 genomes]
rs1885848	0.83[ASN][1000 genomes]
rs1923853	0.96[ASN][1000 genomes]
rs2236363	0.81[GIH][hapmap];0.85[EUR][1000 genomes]
rs2764035	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2897999	0.82[ASN][1000 genomes]
rs3742300	0.85[EUR][1000 genomes]
rs3742301	0.87[GIH][hapmap];0.85[EUR][1000 genomes]
rs4143183	0.88[EUR][1000 genomes]
rs471680	0.81[ASN][1000 genomes]
rs489654	0.81[ASN][1000 genomes]
rs496890	0.86[ASN][1000 genomes]
rs508523	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs525135	0.83[ASN][1000 genomes]
rs537874	0.82[ASN][1000 genomes]
rs540528	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs604105	0.81[ASN][1000 genomes]
rs615225	0.81[ASN][1000 genomes]
rs61950421	0.90[EUR][1000 genomes]
rs629671	0.81[ASN][1000 genomes]
rs636937	0.82[ASN][1000 genomes]
rs646902	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs648146	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs648232	0.81[ASN][1000 genomes]
rs649523	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs664608	0.86[ASN][1000 genomes]
rs676284	0.83[ASN][1000 genomes]
rs67683610	0.88[EUR][1000 genomes]
rs9591474	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9596705	0.82[ASN][1000 genomes]
rs9788389	0.88[EUR][1000 genomes]
rs9788390	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9788403	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv455889	chr13:53419139-53466127	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv561661	chr13:53419139-53466127	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv900090	chr13:53429453-53495715	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53453200-53466600	Weak transcription	Fetal Brain Female	brain
2	chr13:53457400-53461000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:53457600-53460400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr13:53458000-53460000	Enhancers	Brain Germinal Matrix	brain
5	chr13:53458200-53460600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr13:53458400-53460600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr13:53458800-53460200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr13:53458800-53460200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr13:53459000-53460400	Enhancers	Primary hematopoietic stem cells	blood

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