Variant report

Variant	rs73579797
Chromosome Location	chr16:65068683-65068684
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1124695	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1130821	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12597175	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12598268	0.83[AMR][1000 genomes]
rs1496397	0.83[ASN][1000 genomes]
rs1520238	0.85[ASN][1000 genomes]
rs1554401	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16942787	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16956488	0.83[ASN][1000 genomes]
rs16968172	0.83[ASN][1000 genomes]
rs2195431	0.89[EUR][1000 genomes]
rs3785315	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57879848	0.81[AFR][1000 genomes]
rs58004552	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59208924	0.89[EUR][1000 genomes]
rs59407170	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59614634	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7190608	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73575990	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73581614	0.83[AMR][1000 genomes]
rs73581618	0.83[AMR][1000 genomes]
rs8050545	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][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	nsv948640	chr16:64859061-65112790	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv833260	chr16:65050647-65218759	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73579797	CDH11	cis	brain	BrainEAC

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65039000-65089600	Weak transcription	Fetal Intestine Large	intestine
2	chr16:65039200-65068800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:65039600-65079800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr16:65040600-65086000	Weak transcription	HMEC	breast
5	chr16:65041200-65072400	Weak transcription	Fetal Kidney	kidney
6	chr16:65044600-65069000	Weak transcription	Brain Germinal Matrix	brain
7	chr16:65046400-65075600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr16:65047200-65078400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr16:65051000-65071200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr16:65052200-65070800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:65052800-65068800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:65053000-65069000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr16:65056800-65072800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:65058600-65104400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr16:65058800-65069200	Weak transcription	Fetal Brain Female	brain
16	chr16:65059800-65078400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr16:65060600-65070800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr16:65062200-65069600	Weak transcription	Fetal Muscle Leg	muscle
19	chr16:65062400-65074800	Weak transcription	Aorta	Aorta
20	chr16:65062600-65071200	Weak transcription	NHLF	lung
21	chr16:65063800-65071400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr16:65063800-65071400	Weak transcription	Fetal Brain Male	brain
23	chr16:65064000-65069800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr16:65064800-65071400	Weak transcription	Placenta	Placenta
25	chr16:65065000-65069000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr16:65065000-65071200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr16:65065200-65069000	Weak transcription	Brain Angular Gyrus	brain
28	chr16:65065200-65070200	Weak transcription	Brain Substantia Nigra	brain
29	chr16:65065200-65071000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr16:65065800-65074800	Weak transcription	NHDF-Ad	bronchial
31	chr16:65066200-65068800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr16:65066200-65074800	Weak transcription	HSMM	muscle
33	chr16:65066600-65069200	Strong transcription	HSMMtube	muscle
34	chr16:65066800-65069800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr16:65066800-65071200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr16:65066800-65076800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr16:65066800-65078400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr16:65067000-65071600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr16:65068000-65069400	Genic enhancers	Ovary	ovary
40	chr16:65068200-65073000	Strong transcription	Osteobl	bone
41	chr16:65068400-65070200	Weak transcription	NH-A	brain
42	chr16:65068600-65068800	Genic enhancers	Fetal Stomach	stomach
43	chr16:65068600-65069000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr16:65068600-65069000	Genic enhancers	Brain Anterior Caudate	brain
45	chr16:65068600-65069200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr16:65068600-65069200	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr16:65068600-65070000	Enhancers	Spleen	Spleen
48	chr16:65068600-65071400	Strong transcription	Fetal Lung	lung
49	chr16:65068600-65072000	Enhancers	Brain Hippocampus Middle	brain

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