Variant report

Variant	rs73038543
Chromosome Location	chr19:44458293-44458294
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10164273	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10164282	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11666551	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11668687	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11669702	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11669713	0.81[EUR][1000 genomes]
rs11670342	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11671384	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11672243	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11673170	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12185486	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2284242	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2284243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs366111	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55738725	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61734609	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72480789	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73036788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73036792	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73036793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73036801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73038506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73038508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73038515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73038526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73038529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038560	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73038602	0.89[EUR][1000 genomes]
rs73050193	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73050195	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73051806	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73051810	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73051815	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73051825	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73051828	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44454800-44460000	ZNF genes & repeats	Fetal Brain Male	brain
2	chr19:44455800-44459000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:44455800-44459400	Weak transcription	Gastric	stomach
4	chr19:44456000-44458400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:44456000-44458600	Weak transcription	Colonic Mucosa	Colon
6	chr19:44456000-44459200	Weak transcription	Fetal Intestine Large	intestine
7	chr19:44456000-44459800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr19:44456000-44462000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:44456000-44462200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:44456000-44463200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:44456000-44464600	Weak transcription	Pancreas	Pancrea
12	chr19:44456000-44464600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr19:44456200-44458400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:44456200-44459800	ZNF genes & repeats	Fetal Stomach	stomach
15	chr19:44456200-44460200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr19:44456200-44476600	ZNF genes & repeats	Brain Germinal Matrix	brain
17	chr19:44456400-44458400	Weak transcription	HMEC	breast
18	chr19:44456400-44460000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:44456400-44460000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr19:44456400-44460400	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr19:44456400-44460600	ZNF genes & repeats	Fetal Lung	lung
22	chr19:44456400-44461000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr19:44456400-44462000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:44456400-44464200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:44456400-44465600	ZNF genes & repeats	Fetal Brain Female	brain
26	chr19:44456400-44479600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr19:44456400-44487800	ZNF genes & repeats	Liver	Liver
28	chr19:44456600-44458600	Weak transcription	Brain Anterior Caudate	brain
29	chr19:44456600-44458600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr19:44456600-44458600	Weak transcription	Right Ventricle	heart
31	chr19:44456600-44459000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr19:44456600-44459200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr19:44456600-44459400	Weak transcription	Brain Hippocampus Middle	brain
34	chr19:44456600-44461600	Weak transcription	NHLF	lung
35	chr19:44456600-44461800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:44456600-44461800	Weak transcription	HepG2	liver
37	chr19:44456600-44462600	Weak transcription	HSMMtube	muscle
38	chr19:44456600-44463200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr19:44456600-44464600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr19:44456600-44475200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:44456800-44458600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:44456800-44458600	Weak transcription	Brain Angular Gyrus	brain
43	chr19:44456800-44458600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr19:44456800-44458800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:44456800-44460000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr19:44456800-44460400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr19:44456800-44461600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:44456800-44463400	Weak transcription	Fetal Heart	heart
49	chr19:44456800-44466200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr19:44457000-44459000	Weak transcription	Brain Cingulate Gyrus	brain

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