Variant report

Variant	rs73485330
Chromosome Location	chr13:48461107-48461108
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11148101	1.00[EUR][1000 genomes]
rs11838821	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11840146	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11840694	1.00[EUR][1000 genomes]
rs11841025	1.00[EUR][1000 genomes]
rs11841089	1.00[EUR][1000 genomes]
rs11842190	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12428738	1.00[EUR][1000 genomes]
rs12428782	1.00[EUR][1000 genomes]
rs12428797	1.00[EUR][1000 genomes]
rs12430608	1.00[EUR][1000 genomes]
rs12584124	1.00[EUR][1000 genomes]
rs12585580	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12585890	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2148247	1.00[EUR][1000 genomes]
rs35535367	1.00[EUR][1000 genomes]
rs3742108	1.00[EUR][1000 genomes]
rs3782979	1.00[EUR][1000 genomes]
rs56670154	1.00[EUR][1000 genomes]
rs57530384	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57916684	1.00[EUR][1000 genomes]
rs59776562	1.00[EUR][1000 genomes]
rs59845585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59991172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60398625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60718136	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73477042	1.00[EUR][1000 genomes]
rs73479175	1.00[EUR][1000 genomes]
rs73479183	1.00[EUR][1000 genomes]
rs73479186	1.00[EUR][1000 genomes]
rs73479195	1.00[EUR][1000 genomes]
rs73479199	1.00[EUR][1000 genomes]
rs73481207	1.00[EUR][1000 genomes]
rs73483220	1.00[EUR][1000 genomes]
rs73483277	1.00[EUR][1000 genomes]
rs73483293	1.00[EUR][1000 genomes]
rs73485326	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485345	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485349	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485356	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73487241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73487264	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73487269	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73489207	1.00[EUR][1000 genomes]
rs73489232	1.00[EUR][1000 genomes]
rs73493331	1.00[EUR][1000 genomes]
rs73493345	1.00[EUR][1000 genomes]
rs7990408	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3510679	chr13:48236624-48498185	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3510680	chr13:48236624-48498185	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv933980	chr13:48431000-48557419	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48449000-48464200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:48451000-48480200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:48453800-48471600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:48454800-48464400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:48457200-48478000	Weak transcription	Adipose Nuclei	Adipose
6	chr13:48459600-48461600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:48460000-48461800	Enhancers	Dnd41	blood
8	chr13:48460800-48464600	Weak transcription	HSMMtube	muscle
9	chr13:48461000-48464200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr13:48461000-48464200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr13:48461000-48472200	Weak transcription	Spleen	Spleen
12	chr13:48461000-48472400	Weak transcription	Lung	lung
13	chr13:48461000-48478200	Weak transcription	Left Ventricle	heart

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