Variant report

Variant	rs4696814
Chromosome Location	chr4:8327111-8327112
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	chr4:8326199..8328705-chr4:8337836..8339581,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11734253	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2386219	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2386222	0.81[ASN][1000 genomes]
rs4696815	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6447862	0.83[ASN][1000 genomes]
rs6447864	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6447865	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6819782	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6825025	0.83[AMR][1000 genomes]
rs6833458	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6852935	0.84[AMR][1000 genomes]
rs73085805	0.86[ASN][1000 genomes]
rs73085808	0.86[ASN][1000 genomes]
rs753621	0.83[ASN][1000 genomes]
rs753622	0.83[ASN][1000 genomes]
rs754739	0.83[ASN][1000 genomes]
rs7655911	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs899484	0.86[ASN][1000 genomes]
rs899493	0.83[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	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv470013	chr4:8315938-8377058	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4696814	CLNK	cis	parietal	SCAN
rs4696814	MAN2B2	cis	parietal	SCAN
rs4696814	COQ6	trans	parietal	SCAN
rs4696814	ACOX3	cis	multi-tissue	Pritchard

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8323200-8331200	Weak transcription	Fetal Heart	heart
2	chr4:8325600-8328000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:8325600-8338400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:8325800-8327600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:8325800-8327800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:8325800-8327800	ZNF genes & repeats	Fetal Stomach	stomach
7	chr4:8325800-8327800	Enhancers	Right Ventricle	heart
8	chr4:8325800-8328200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:8326000-8327400	Enhancers	Esophagus	oesophagus
10	chr4:8326000-8327400	Enhancers	Left Ventricle	heart
11	chr4:8326000-8327800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:8326000-8327800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr4:8326000-8327800	Enhancers	NHEK	skin
14	chr4:8326200-8327200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr4:8326200-8327800	Enhancers	Osteobl	bone
16	chr4:8326400-8327200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:8326400-8327400	Enhancers	NHDF-Ad	bronchial
18	chr4:8326400-8327600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:8326400-8327800	Enhancers	HSMM	muscle
20	chr4:8326400-8332600	Weak transcription	Spleen	Spleen
21	chr4:8326600-8327400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:8326600-8327400	Enhancers	Fetal Muscle Leg	muscle
23	chr4:8326600-8327600	Enhancers	Stomach Smooth Muscle	stomach
24	chr4:8326800-8331400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:8326800-8332200	Weak transcription	Right Atrium	heart
26	chr4:8327000-8327400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:8327000-8327400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr4:8327000-8327400	Flanking Active TSS	HMEC	breast
29	chr4:8327000-8327600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:8327000-8327800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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