Variant report

Variant	rs58820551
Chromosome Location	chr18:13041475-13041476
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs11080624	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11080626	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11080627	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11659468	0.92[EUR][1000 genomes]
rs11660908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11661802	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11662528	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11663369	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11663399	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11663455	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11663521	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11663778	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11664958	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11665378	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11665394	0.92[EUR][1000 genomes]
rs12604624	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12606033	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12607152	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12607203	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12607323	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12607329	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12607661	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12607682	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2282542	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3786160	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3786162	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3786163	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3786164	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3809907	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3809908	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56913743	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57292913	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57448401	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57906042	0.92[EUR][1000 genomes]
rs58158805	0.91[EUR][1000 genomes]
rs58322002	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58343237	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58554306	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58558999	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59278606	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59557962	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59962936	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60015020	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60281669	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60444886	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60669993	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60685477	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60710487	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60827697	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60945352	0.83[AMR][1000 genomes]
rs60989271	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61364693	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62095829	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs66470739	0.92[EUR][1000 genomes]
rs66494849	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6650609	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6650616	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6650617	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66559751	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66685204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66688868	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66929859	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs66935882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67084247	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67258461	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs67334724	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67357574	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67432911	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67565680	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs67675517	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67765196	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67838921	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs67863818	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67868710	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67955156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68051414	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs68169869	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7228940	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7233578	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7236172	0.95[EUR][1000 genomes]
rs7236987	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7243276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7243536	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7243597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72636759	0.85[AMR][1000 genomes]
rs72636760	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72636761	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8084728	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8088543	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8090759	0.92[EUR][1000 genomes]
rs8091992	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8092992	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8093363	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8093650	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8094351	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9952452	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12995200-13042000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:12998400-13041600	Strong transcription	Dnd41	blood
3	chr18:13007200-13044000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr18:13008000-13046000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr18:13008400-13047200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr18:13013800-13052000	Weak transcription	Right Ventricle	heart
7	chr18:13013800-13053200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:13014200-13047200	Weak transcription	Psoas Muscle	Psoas
9	chr18:13015600-13048800	Weak transcription	Small Intestine	intestine
10	chr18:13016800-13053200	Weak transcription	Esophagus	oesophagus
11	chr18:13017200-13056000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr18:13017600-13042200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr18:13018600-13117400	Weak transcription	Stomach Mucosa	stomach
14	chr18:13024000-13042400	Weak transcription	Fetal Brain Female	brain
15	chr18:13024200-13041800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr18:13024200-13042200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr18:13028400-13052000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr18:13030000-13048600	Weak transcription	Brain Substantia Nigra	brain
19	chr18:13031000-13048400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr18:13031000-13048600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr18:13032000-13047000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr18:13032000-13048000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr18:13032000-13048200	Weak transcription	Colon Smooth Muscle	Colon
24	chr18:13032000-13056000	Weak transcription	HSMMtube	muscle
25	chr18:13032200-13042000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr18:13032200-13043000	Weak transcription	Pancreas	Pancrea
27	chr18:13032400-13048600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr18:13032600-13041600	Weak transcription	A549	lung
29	chr18:13032600-13042000	Weak transcription	Brain Hippocampus Middle	brain
30	chr18:13032600-13048600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr18:13032800-13042000	Weak transcription	NH-A	brain
32	chr18:13033000-13041800	Weak transcription	Brain Germinal Matrix	brain
33	chr18:13033000-13042200	Weak transcription	Fetal Kidney	kidney
34	chr18:13033000-13043000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr18:13033000-13046000	Weak transcription	Brain Angular Gyrus	brain
36	chr18:13033000-13046000	Weak transcription	Spleen	Spleen
37	chr18:13033000-13047200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr18:13033000-13052200	Weak transcription	Fetal Brain Male	brain
39	chr18:13033200-13041800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr18:13033200-13041800	Weak transcription	Placenta	Placenta
41	chr18:13033200-13042000	Weak transcription	Osteobl	bone
42	chr18:13033400-13053800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr18:13033600-13042200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr18:13033600-13046800	Weak transcription	HepG2	liver
45	chr18:13033800-13042000	Weak transcription	NHDF-Ad	bronchial
46	chr18:13033800-13042200	Weak transcription	HSMM	muscle
47	chr18:13034000-13042000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr18:13035600-13043400	Strong transcription	GM12878-XiMat	blood
49	chr18:13036200-13043400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr18:13036400-13043400	Strong transcription	HUES64 Cell Line	embryonic stem cell

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