Variant report

Variant	rs62118145
Chromosome Location	chr19:44992994-44992995
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1865385	0.81[EUR][1000 genomes]
rs1897824	0.83[EUR][1000 genomes]
rs2117384	0.83[EUR][1000 genomes]
rs2461534	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2571040	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2571041	0.81[EUR][1000 genomes]
rs2571046	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2571048	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2571049	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2571050	0.83[EUR][1000 genomes]
rs2571053	0.81[EUR][1000 genomes]
rs2686756	0.81[EUR][1000 genomes]
rs2686757	0.81[EUR][1000 genomes]
rs2686758	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2686762	0.83[EUR][1000 genomes]
rs7250221	0.81[EUR][1000 genomes]
rs926020	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs954314	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers 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	18 gene(s)	inside rSNPs	diseases
4	nsv912115	chr19:44957508-44995990	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62118145	ZNF180	cis	Muscle Skeletal	GTEx

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44978400-44993600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:44978800-45003400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr19:44989000-44997000	Weak transcription	Hela-S3	cervix
4	chr19:44989200-44996800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:44990400-44995000	Weak transcription	Osteobl	bone
6	chr19:44990600-44993000	ZNF genes & repeats	Ovary	ovary
7	chr19:44990800-44993600	Weak transcription	K562	blood
8	chr19:44991600-44993200	ZNF genes & repeats	Lung	lung
9	chr19:44991800-44994000	Weak transcription	HepG2	liver
10	chr19:44991800-44994200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:44991800-44994400	Weak transcription	Colon Smooth Muscle	Colon
12	chr19:44991800-44994800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr19:44991800-44994800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr19:44991800-44995000	Weak transcription	HSMM	muscle
15	chr19:44991800-44995200	Weak transcription	HSMMtube	muscle
16	chr19:44991800-44996000	Weak transcription	Fetal Heart	heart
17	chr19:44992000-44993200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:44992000-44994000	Weak transcription	Brain Germinal Matrix	brain
19	chr19:44992000-44994000	Weak transcription	Fetal Kidney	kidney
20	chr19:44992000-44994000	Weak transcription	A549	lung
21	chr19:44992000-44994000	Weak transcription	GM12878-XiMat	blood
22	chr19:44992000-44994200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr19:44992000-44994200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:44992000-44994200	Weak transcription	Primary T cells from cord blood	blood
25	chr19:44992000-44994200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr19:44992000-44994200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr19:44992000-44994400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:44992000-44994400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr19:44992000-44994400	Weak transcription	Right Ventricle	heart
30	chr19:44992000-44994800	Weak transcription	NHEK	skin
31	chr19:44992000-44995000	Weak transcription	Brain Angular Gyrus	brain
32	chr19:44992000-44995200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr19:44992000-44995200	Weak transcription	HUVEC	blood vessel
34	chr19:44992200-44994000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:44992200-44994000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:44992200-44994000	Weak transcription	Brain Anterior Caudate	brain
37	chr19:44992200-44994000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr19:44992200-44994000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr19:44992200-44994000	Weak transcription	Fetal Brain Female	brain
40	chr19:44992200-44994000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr19:44992200-44994000	Weak transcription	Dnd41	blood
42	chr19:44992200-44994200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr19:44992200-44994200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:44992200-44994200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr19:44992200-44994200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr19:44992200-44994200	Weak transcription	Brain Hippocampus Middle	brain
47	chr19:44992200-44994200	Weak transcription	Fetal Lung	lung
48	chr19:44992200-44994200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr19:44992200-44994200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr19:44992200-44994200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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