Variant report

Variant	rs11646780
Chromosome Location	chr16:80022802-80022803
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80019688..80022858-chr16:80044337..80047415,3	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11645608	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11645885	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11647839	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12149105	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12149738	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12921341	0.89[EUR][1000 genomes]
rs12923727	0.88[EUR][1000 genomes]
rs12923732	0.88[EUR][1000 genomes]
rs12930889	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28425168	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35244260	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3924082	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3936188	0.88[EUR][1000 genomes]
rs4073088	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4073089	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4076249	0.89[EUR][1000 genomes]
rs4076250	0.94[EUR][1000 genomes]
rs4076251	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4341754	0.84[EUR][1000 genomes]
rs4381616	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4426358	0.86[EUR][1000 genomes]
rs4439776	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4445914	0.82[EUR][1000 genomes]
rs4485384	0.81[EUR][1000 genomes]
rs4490014	0.81[EUR][1000 genomes]
rs4505341	0.86[EUR][1000 genomes]
rs4611478	0.87[EUR][1000 genomes]
rs4888064	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6564723	0.86[EUR][1000 genomes]
rs8053769	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8057036	0.84[EUR][1000 genomes]
rs8063712	0.81[EUR][1000 genomes]
rs9921198	0.84[EUR][1000 genomes]
rs9923757	0.85[EUR][1000 genomes]
rs9923939	0.84[EUR][1000 genomes]
rs9923943	0.84[EUR][1000 genomes]
rs9924079	0.83[EUR][1000 genomes]
rs9924359	0.83[EUR][1000 genomes]
rs9924378	0.85[EUR][1000 genomes]
rs9926410	0.84[EUR][1000 genomes]
rs9927433	0.85[EUR][1000 genomes]
rs9929759	0.89[EUR][1000 genomes]
rs9929923	0.89[EUR][1000 genomes]
rs9930005	0.84[EUR][1000 genomes]
rs9931548	0.83[EUR][1000 genomes]
rs9932265	0.83[EUR][1000 genomes]
rs9932617	0.82[EUR][1000 genomes]
rs9934311	0.84[EUR][1000 genomes]
rs9935292	0.90[EUR][1000 genomes]
rs9936732	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv573294	chr16:80005642-80131944	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11646780	CMIP	cis	parietal	SCAN
rs11646780	LDHD	cis	cerebellum	SCAN
rs11646780	RFWD3	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80021200-80023800	Enhancers	K562	blood
2	chr16:80022000-80023200	Enhancers	HSMMtube	muscle
3	chr16:80022000-80023600	Enhancers	Placenta	Placenta
4	chr16:80022200-80023800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr16:80022400-80023000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr16:80022400-80023800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr16:80022600-80023400	Enhancers	NH-A	brain
8	chr16:80022600-80024000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr16:80022800-80024000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr16:80022800-80024000	Enhancers	Fetal Lung	lung
11	chr16:80022800-80025200	Weak transcription	Fetal Intestine Small	intestine

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