Variant report

Variant	rs8102580
Chromosome Location	chr19:56907449-56907450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56902006..56908060-chr19:56909612..56917978,15	K562	blood:

Variant related genes	Relation type
ENSG00000198440	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11084446	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12608966	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12610115	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2288860	0.81[EUR][1000 genomes]
rs2904016	0.81[EUR][1000 genomes]
rs35080747	0.83[AMR][1000 genomes]
rs55874363	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56301546	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59858465	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7258010	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[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	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
2	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
5	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv544096	chr19:56905651-56933455	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8102580	ZNF582-AS1	cis	Artery Tibial	GTEx
rs8102580	ZNF582-AS1	cis	Adipose Subcutaneous	GTEx
rs8102580	ZNF582-AS1	cis	Thyroid	GTEx
rs8102580	ZNF582-AS1	cis	Esophagus Muscularis	GTEx
rs8102580	ZNF582-AS1	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56905000-56913600	ZNF genes & repeats	Liver	Liver
2	chr19:56905400-56909000	Weak transcription	Spleen	Spleen
3	chr19:56905400-56909200	Weak transcription	Ovary	ovary
4	chr19:56905400-56909400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:56905400-56910800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:56905400-56911000	Weak transcription	Stomach Mucosa	stomach
7	chr19:56905600-56908400	Weak transcription	Primary T cells from cord blood	blood
8	chr19:56905600-56908400	Weak transcription	HSMMtube	muscle
9	chr19:56905600-56908800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:56905600-56909200	Weak transcription	Aorta	Aorta
11	chr19:56905600-56909400	Weak transcription	Brain Germinal Matrix	brain
12	chr19:56905600-56909400	Weak transcription	Brain Substantia Nigra	brain
13	chr19:56905600-56909400	Weak transcription	Fetal Brain Female	brain
14	chr19:56905600-56910000	Weak transcription	Fetal Brain Male	brain
15	chr19:56905600-56910200	Weak transcription	Fetal Kidney	kidney
16	chr19:56905600-56914600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr19:56905800-56908600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:56905800-56908800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:56905800-56908800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr19:56905800-56908800	Weak transcription	Brain Hippocampus Middle	brain
21	chr19:56905800-56909000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr19:56905800-56909000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr19:56905800-56909000	Weak transcription	Fetal Muscle Leg	muscle
24	chr19:56905800-56909000	Weak transcription	Fetal Stomach	stomach
25	chr19:56905800-56909000	Weak transcription	Left Ventricle	heart
26	chr19:56905800-56909200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:56905800-56909200	Weak transcription	Colon Smooth Muscle	Colon
28	chr19:56905800-56909200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr19:56905800-56909200	Weak transcription	Fetal Lung	lung
30	chr19:56905800-56910000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr19:56905800-56914400	Weak transcription	Fetal Heart	heart
32	chr19:56906000-56908800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr19:56906000-56908800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr19:56906000-56909400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr19:56906000-56909400	Weak transcription	Right Ventricle	heart
36	chr19:56906000-56910200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr19:56906000-56910200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr19:56906000-56910400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr19:56906200-56909000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr19:56906200-56909200	Weak transcription	Brain Anterior Caudate	brain
41	chr19:56906200-56909400	Weak transcription	Brain Angular Gyrus	brain
42	chr19:56906200-56909400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr19:56906400-56908200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr19:56906600-56908000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:56906600-56909000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr19:56907000-56908000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr19:56907000-56908800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:56907200-56908200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr19:56907400-56907600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:56907400-56910200	Weak transcription	H9 Cell Line	embryonic stem cell

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