Variant report

Variant	rs3779816
Chromosome Location	chr8:2086570-2086571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10099055	0.91[ASN][1000 genomes]
rs10103035	0.91[ASN][1000 genomes]
rs10503170	0.89[ASN][1000 genomes]
rs1063523	0.80[ASN][1000 genomes]
rs13248197	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13264265	0.88[ASN][1000 genomes]
rs13264810	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13265701	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13267188	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13270863	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13271873	0.83[ASN][1000 genomes]
rs13272507	0.86[ASN][1000 genomes]
rs13275233	0.87[ASN][1000 genomes]
rs17684913	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17752076	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17752149	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17752155	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17854780	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2280905	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34004096	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34039811	0.99[ASN][1000 genomes]
rs34547976	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35077455	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35241794	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35366685	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35402008	0.86[ASN][1000 genomes]
rs35862926	0.89[ASN][1000 genomes]
rs3779814	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3779818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779819	0.99[ASN][1000 genomes]
rs3824167	0.91[ASN][1000 genomes]
rs4262342	0.97[ASN][1000 genomes]
rs4363227	0.98[ASN][1000 genomes]
rs4535761	0.98[ASN][1000 genomes]
rs4568639	0.92[ASN][1000 genomes]
rs4599837	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5023999	0.98[ASN][1000 genomes]
rs55806773	0.97[ASN][1000 genomes]
rs55955938	0.98[ASN][1000 genomes]
rs62480003	0.98[ASN][1000 genomes]
rs62501379	0.92[ASN][1000 genomes]
rs62501403	0.91[ASN][1000 genomes]
rs66746701	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs67313412	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs67371404	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs67489990	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs67769214	0.92[ASN][1000 genomes]
rs68035375	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs68053310	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs68123268	0.86[ASN][1000 genomes]
rs71499062	0.86[ASN][1000 genomes]
rs73169419	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73169431	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73169432	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73169434	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73169439	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73169447	0.87[ASN][1000 genomes]
rs73169450	0.89[ASN][1000 genomes]
rs73169451	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[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	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2075600-2092600	Weak transcription	Esophagus	oesophagus
2	chr8:2075800-2091400	Weak transcription	Gastric	stomach
3	chr8:2076000-2087000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:2076000-2092800	Weak transcription	Brain Angular Gyrus	brain
5	chr8:2076000-2093400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:2076000-2094400	Weak transcription	Brain Hippocampus Middle	brain
7	chr8:2076000-2109600	Weak transcription	Right Atrium	heart
8	chr8:2076200-2092400	Weak transcription	HSMMtube	muscle
9	chr8:2076400-2086600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:2076400-2097800	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:2076600-2092800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:2076600-2096800	Strong transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:2078200-2089600	Weak transcription	Psoas Muscle	Psoas
14	chr8:2079400-2094600	Weak transcription	Fetal Heart	heart
15	chr8:2079400-2095800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr8:2079600-2093600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:2079800-2093400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:2080400-2087800	Strong transcription	Fetal Muscle Leg	muscle
19	chr8:2080800-2096800	Strong transcription	Left Ventricle	heart
20	chr8:2081000-2087400	Weak transcription	Thymus	Thymus
21	chr8:2081200-2089200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:2082400-2091400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr8:2082400-2093200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr8:2082600-2092400	Weak transcription	Aorta	Aorta
25	chr8:2083600-2087200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr8:2083600-2087200	Weak transcription	Fetal Thymus	thymus
27	chr8:2083600-2087800	Strong transcription	Right Ventricle	heart
28	chr8:2084200-2086800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:2084200-2087600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:2084400-2086600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:2084400-2086800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:2084400-2091400	Enhancers	Primary T cells fromperipheralblood	blood
33	chr8:2084600-2087200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr8:2084600-2087400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:2085400-2086800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:2085400-2089400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr8:2085400-2094600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:2085600-2091200	Weak transcription	Pancreas	Pancrea
39	chr8:2085600-2092600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:2085800-2086600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:2085800-2086800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr8:2086000-2086600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr8:2086000-2086600	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr8:2086000-2092600	Weak transcription	Liver	Liver
45	chr8:2086200-2086800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:2086200-2087200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr8:2086200-2096800	Weak transcription	Spleen	Spleen
48	chr8:2086400-2086600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr8:2086400-2087400	Weak transcription	Primary T cells from cord blood	blood
50	chr8:2086400-2091200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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