Variant report

Variant	rs8104747
Chromosome Location	chr19:38176046-38176047
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10153500	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10424047	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11878261	0.81[EUR][1000 genomes]
rs11879149	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11880056	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11880604	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11883255	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34206817	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34743484	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3810359	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs45505797	0.83[EUR][1000 genomes]
rs56075341	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56264690	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56281742	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57504517	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57725815	0.93[EUR][1000 genomes]
rs57867853	1.00[EUR][1000 genomes]
rs59966837	1.00[EUR][1000 genomes]
rs60686304	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62108260	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62108262	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62108264	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62108289	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62108290	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62108292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62108293	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62108297	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62108302	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62108344	0.86[AFR][1000 genomes]
rs62108348	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62108354	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62110178	1.00[EUR][1000 genomes]
rs62110183	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62110185	0.93[EUR][1000 genomes]
rs62110186	0.93[EUR][1000 genomes]
rs62110187	0.84[EUR][1000 genomes]
rs62110188	0.81[EUR][1000 genomes]
rs62111488	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62111490	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7245981	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7247175	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7258992	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7259029	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7259717	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73930999	0.83[EUR][1000 genomes]
rs73932929	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73932955	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8101991	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8102189	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8104124	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8108261	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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	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

No data

Chromatin state (count:33 , 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
33	chr19:38175800-38182200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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