Variant report

Variant	rs73037060
Chromosome Location	chr19:38175632-38175633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1060522	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10853710	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11083429	0.81[EUR][1000 genomes]
rs11083433	0.84[EUR][1000 genomes]
rs11666172	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11668796	0.96[EUR][1000 genomes]
rs11671953	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11673497	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16975299	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17246792	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28431170	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2891657	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34991303	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55871826	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55913702	0.96[EUR][1000 genomes]
rs55950325	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62108305	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62108351	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6508739	0.96[EUR][1000 genomes]
rs7249622	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7253081	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7258385	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8102818	0.81[EUR][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	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73037060	AC012309.5	cis	Thyroid	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38166600-38182600	Weak transcription	Right Ventricle	heart
2	chr19:38166800-38180000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:38169800-38182200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:38170400-38176600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr19:38170400-38177000	Weak transcription	Brain Anterior Caudate	brain
6	chr19:38170400-38177200	Weak transcription	Psoas Muscle	Psoas
7	chr19:38170400-38182200	Weak transcription	Brain Substantia Nigra	brain
8	chr19:38170600-38182200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:38170800-38182200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:38171400-38182200	Weak transcription	Brain Angular Gyrus	brain
11	chr19:38172200-38176400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr19:38172800-38177000	Weak transcription	Brain Germinal Matrix	brain
13	chr19:38172800-38182200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:38173000-38176600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr19:38173600-38182800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr19:38173800-38177000	Weak transcription	Brain Hippocampus Middle	brain
17	chr19:38173800-38180400	Weak transcription	Dnd41	blood
18	chr19:38173800-38182200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr19:38173800-38182200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr19:38174600-38176400	Weak transcription	Fetal Lung	lung
21	chr19:38174600-38182200	Weak transcription	Colon Smooth Muscle	Colon
22	chr19:38174800-38176200	Weak transcription	Right Atrium	heart
23	chr19:38175000-38182400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr19:38175200-38176200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr19:38175200-38176200	Weak transcription	Aorta	Aorta
26	chr19:38175200-38176600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:38175200-38177200	Weak transcription	Ovary	ovary
28	chr19:38175200-38177400	Weak transcription	Left Ventricle	heart
29	chr19:38175200-38179400	Weak transcription	Fetal Stomach	stomach
30	chr19:38175200-38182400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:38175400-38176400	Weak transcription	Fetal Brain Female	brain
32	chr19:38175600-38176400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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