Variant report

Variant	rs4783300
Chromosome Location	chr16:82949410-82949411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82944489..82948100-chr16:82949198..82951933,4	K562	blood:
2	chr16:82944489..82947462-chr16:82949198..82951933,3	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1008648	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs11150522	1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11150523	1.00[ASN][1000 genomes]
rs12102479	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs12148992	0.82[ASN][1000 genomes]
rs12919606	1.00[ASN][1000 genomes]
rs12923557	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13331478	1.00[ASN][1000 genomes]
rs13334966	0.81[ASN][1000 genomes]
rs16958850	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16958852	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16958858	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17673003	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17674527	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17675094	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17743051	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1991026	0.85[ASN][1000 genomes]
rs1991028	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2011228	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs2011241	0.88[ASN][1000 genomes]
rs2216734	0.88[ASN][1000 genomes]
rs2216735	0.84[ASN][1000 genomes]
rs2216736	1.00[CHB][hapmap]
rs2325691	0.88[ASN][1000 genomes]
rs28417188	1.00[ASN][1000 genomes]
rs28435993	0.82[ASN][1000 genomes]
rs28457841	0.88[ASN][1000 genomes]
rs28661446	1.00[ASN][1000 genomes]
rs28701026	0.85[ASN][1000 genomes]
rs34482883	1.00[ASN][1000 genomes]
rs35775260	1.00[ASN][1000 genomes]
rs3848298	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs4273030	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs4273031	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs4312297	0.82[CEU][hapmap];1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs4485359	0.88[ASN][1000 genomes]
rs4569269	0.81[ASN][1000 genomes]
rs4584813	0.84[ASN][1000 genomes]
rs4616278	0.88[ASN][1000 genomes]
rs4635337	0.88[ASN][1000 genomes]
rs4782737	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4782738	0.88[ASN][1000 genomes]
rs4783299	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62035221	0.83[ASN][1000 genomes]
rs62037203	0.88[ASN][1000 genomes]
rs6565078	1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7187633	0.95[ASN][1000 genomes]
rs7190538	1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7192482	0.87[ASN][1000 genomes]
rs72807836	0.82[ASN][1000 genomes]
rs7404932	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs7404959	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs7405300	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs7501309	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs8050643	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs8050659	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs8052619	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs9319575	1.00[JPT][hapmap]
rs9319579	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs9926654	1.00[ASN][1000 genomes]
rs9928115	0.88[ASN][1000 genomes]
rs9930233	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9933074	0.82[ASN][1000 genomes]
rs9935254	0.82[ASN][1000 genomes]
rs9936335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9938031	1.00[JPT][hapmap]
rs9940251	1.00[JPT][hapmap]
rs9940486	0.88[ASN][1000 genomes]
rs9941054	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs9941327	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs995506	1.00[CHB][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1063617	chr16:82786803-83229529	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2830385	chr16:82841335-82950413	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv573382	chr16:82905546-82950502	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv907028	chr16:82940611-82974628	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4783300	COTL1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82915800-82953000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:82926800-82961200	Weak transcription	HSMM	muscle
3	chr16:82934000-83003400	Weak transcription	NHEK	skin
4	chr16:82934200-82952800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:82934400-82967000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:82934400-82967400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:82934600-82989600	Weak transcription	HSMMtube	muscle
8	chr16:82948400-82958800	Weak transcription	Left Ventricle	heart
9	chr16:82949200-82949600	Enhancers	Aorta	Aorta

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