Variant report

Variant	rs2967538
Chromosome Location	chr19:36948663-36948664
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10413697	1.00[AMR][1000 genomes]
rs10417344	1.00[AMR][1000 genomes]
rs10422700	1.00[AMR][1000 genomes]
rs2912407	1.00[AMR][1000 genomes]
rs2912409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2912418	1.00[AMR][1000 genomes]
rs2945986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2967425	1.00[AMR][1000 genomes]
rs2967426	1.00[AMR][1000 genomes]
rs2967428	1.00[AMR][1000 genomes]
rs2967430	1.00[AMR][1000 genomes]
rs58880289	1.00[AMR][1000 genomes]
rs59951429	1.00[AMR][1000 genomes]
rs73607078	1.00[AMR][1000 genomes]
rs73609981	1.00[AMR][1000 genomes]
rs73612010	1.00[AMR][1000 genomes]
rs73612013	1.00[AMR][1000 genomes]
rs73612039	1.00[AMR][1000 genomes]
rs73612047	1.00[AMR][1000 genomes]
rs73612050	1.00[AMR][1000 genomes]
rs73612052	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1067101	chr19:36901010-36956251	ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv911648	chr19:36914171-37047472	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised 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	61 gene(s)	inside rSNPs	diseases
6	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv1067364	chr19:36921204-36985874	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36934200-36950000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:36936000-36950000	ZNF genes & repeats	Fetal Brain Female	brain
3	chr19:36936200-36949600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:36936400-36978400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:36938200-36952200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:36938400-36951200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:36939200-36949000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
8	chr19:36940800-36959400	Weak transcription	Brain Angular Gyrus	brain
9	chr19:36941000-36959400	Weak transcription	Placenta	Placenta
10	chr19:36941000-36979000	Weak transcription	Hela-S3	cervix
11	chr19:36942400-36962400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr19:36942600-36951800	Weak transcription	HSMM	muscle
13	chr19:36942600-36957200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr19:36942600-36963000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:36942600-36966200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr19:36942800-36962200	Weak transcription	Right Ventricle	heart
17	chr19:36943000-36954600	Weak transcription	Fetal Muscle Leg	muscle
18	chr19:36943200-36951000	Weak transcription	Osteobl	bone
19	chr19:36943600-36959200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr19:36944400-36961200	Weak transcription	Left Ventricle	heart
21	chr19:36944800-36969600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr19:36945400-36955000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr19:36945400-36959400	Weak transcription	Aorta	Aorta
24	chr19:36945800-36979000	Weak transcription	Fetal Heart	heart
25	chr19:36946000-36963000	Weak transcription	K562	blood
26	chr19:36946200-36955200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr19:36946400-36962200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr19:36946400-36963400	Weak transcription	NHDF-Ad	bronchial
29	chr19:36946600-36954400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr19:36946600-36959200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr19:36947200-36957200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr19:36947200-36960600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:36947400-36952600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr19:36947600-36948800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:36947600-36949400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:36947600-36949600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
37	chr19:36947600-36977400	ZNF genes & repeats	Liver	Liver
38	chr19:36947800-36949200	ZNF genes & repeats	Adipose Nuclei	Adipose
39	chr19:36947800-36949200	ZNF genes & repeats	Brain Hippocampus Middle	brain
40	chr19:36947800-36949400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
41	chr19:36947800-36949400	ZNF genes & repeats	A549	lung
42	chr19:36947800-36949600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr19:36948000-36962200	Weak transcription	Brain Substantia Nigra	brain
44	chr19:36948200-36949000	Weak transcription	Brain Anterior Caudate	brain
45	chr19:36948200-36951200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr19:36948200-36954000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr19:36948200-36960600	Weak transcription	Fetal Kidney	kidney
48	chr19:36948200-36962200	Weak transcription	HSMMtube	muscle
49	chr19:36948400-36948800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr19:36948400-36949400	ZNF genes & repeats	Psoas Muscle	Psoas

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