Variant report

Variant	rs73036634
Chromosome Location	chr19:38468558-38468559
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38463904..38465863-chr19:38467439..38469281,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17249336	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55752822	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55785437	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55813548	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55946812	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55974157	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55983118	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55994045	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56080901	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56207124	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56230664	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56246446	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56251160	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56252444	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56300335	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56676595	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6508755	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7245962	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7257266	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7258011	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73034922	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73036658	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8100199	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs73036634	AC012309.5	cis	Thyroid	GTEx
rs73036634	AC012309.5	cis	Esophagus Mucosa	GTEx
rs73036634	AC012309.5	cis	Heart Left Ventricle	GTEx
rs73036634	ZNF781	cis	Thyroid	GTEx
rs73036634	AC012309.5	cis	Artery Tibial	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38457200-38470400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:38457600-38470200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:38457600-38470400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr19:38457600-38470400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr19:38458200-38468600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr19:38461600-38468600	Weak transcription	Pancreas	Pancrea
7	chr19:38461600-38470200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:38461600-38470200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr19:38461600-38470200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr19:38461600-38470200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr19:38461600-38470400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:38461600-38470400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:38461600-38470400	Weak transcription	Gastric	stomach
14	chr19:38461600-38472000	Weak transcription	NHDF-Ad	bronchial
15	chr19:38461600-38476600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:38461600-38493600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr19:38461600-38493600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr19:38461800-38470600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:38461800-38476800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr19:38462000-38470200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr19:38462200-38470800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr19:38462200-38471800	Enhancers	Primary B cells from peripheral blood	blood
23	chr19:38463200-38468800	Weak transcription	Esophagus	oesophagus
24	chr19:38463400-38470400	Weak transcription	Colonic Mucosa	Colon
25	chr19:38463600-38469000	Weak transcription	Fetal Intestine Large	intestine
26	chr19:38463600-38476000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:38463800-38476200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr19:38463800-38484800	Weak transcription	Fetal Stomach	stomach
29	chr19:38464000-38470400	Weak transcription	Fetal Muscle Leg	muscle
30	chr19:38464200-38469800	Strong transcription	Fetal Intestine Small	intestine
31	chr19:38465200-38470200	Weak transcription	Liver	Liver
32	chr19:38466000-38470200	Weak transcription	Stomach Mucosa	stomach
33	chr19:38466000-38472400	Weak transcription	Primary T cells from cord blood	blood
34	chr19:38466000-38475800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr19:38466200-38469600	Weak transcription	HepG2	liver
36	chr19:38466400-38468600	Enhancers	GM12878-XiMat	blood
37	chr19:38467400-38468600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:38467800-38471800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr19:38468000-38469200	Enhancers	Brain Angular Gyrus	brain
40	chr19:38468000-38472000	Enhancers	Primary B cells from cord blood	blood
41	chr19:38468200-38468600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:38468200-38468800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr19:38468200-38469000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr19:38468200-38469000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr19:38468200-38469000	Genic enhancers	A549	lung
46	chr19:38468200-38469200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:38468200-38469200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:38468200-38469200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr19:38468200-38469200	Enhancers	Brain Anterior Caudate	brain
50	chr19:38468200-38469200	Enhancers	Brain Hippocampus Middle	brain

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