Variant report

Variant	rs1564348
Chromosome Location	chr6:160578860-160578861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11753995	1.00[CEU][hapmap];0.93[GIH][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62440901	0.82[EUR][1000 genomes]
rs662138	0.90[CEU][hapmap];0.82[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv35098	chr6:160422589-161070870	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv2757197	chr6:160432331-161070870	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv818463	chr6:160435569-161025547	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv533582	chr6:160554084-160579554	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:4)

Disease	PMID	Source
LDL cholesterol	20686565	GWAS catalog
Cholesterol, total	20686565	GWAS catalog
Cholesterol, total	24097068	GWAS catalog
LDL cholesterol	24097068	GWAS catalog

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160539400-160580400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:160554800-160582800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:160559200-160581600	Weak transcription	Gastric	stomach
4	chr6:160559200-160581600	Weak transcription	Pancreas	Pancrea
5	chr6:160559800-160581600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr6:160560200-160580600	Weak transcription	Fetal Intestine Large	intestine
7	chr6:160560200-160581800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:160560400-160584600	Weak transcription	Spleen	Spleen
9	chr6:160560800-160583000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:160562400-160583600	Weak transcription	HSMMtube	muscle
11	chr6:160563000-160581000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:160563400-160581600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:160563400-160581800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr6:160563600-160580200	Strong transcription	Liver	Liver
15	chr6:160565200-160579400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr6:160567000-160587200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:160568200-160584600	Weak transcription	Ovary	ovary
18	chr6:160569000-160581600	Weak transcription	Esophagus	oesophagus
19	chr6:160573200-160582400	Weak transcription	Left Ventricle	heart
20	chr6:160574200-160581000	Weak transcription	Fetal Intestine Small	intestine
21	chr6:160574400-160581600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr6:160574600-160584800	Weak transcription	Small Intestine	intestine
23	chr6:160574800-160583600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:160575200-160581600	Weak transcription	Lung	lung
25	chr6:160575400-160581600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:160575400-160582400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:160575400-160584000	Weak transcription	Brain Anterior Caudate	brain
28	chr6:160576800-160584400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr6:160577200-160581600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:160577800-160582000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:160578200-160580000	Weak transcription	Fetal Muscle Leg	muscle
32	chr6:160578400-160591200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:160578800-160591000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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