Variant report

Variant	rs58554306
Chromosome Location	chr18:13039752-13039753
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13032734..13035826-chr18:13036723..13041080,5	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11080624	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11080626	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11080627	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11659468	0.92[EUR][1000 genomes]
rs11660908	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11661802	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11662528	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11663369	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11663399	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11663455	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11663521	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11663778	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11664958	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11665378	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11665394	0.92[EUR][1000 genomes]
rs12604624	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12606033	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12607152	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12607203	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12607323	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12607329	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12607661	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12607682	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2282542	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3786160	0.95[ASN][1000 genomes]
rs3786162	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3786163	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3786164	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3809907	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3809908	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56913743	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57292913	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57448401	0.95[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	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58343237	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58558999	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58820551	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59278606	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59557962	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59962936	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60015020	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60281669	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60444886	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60669993	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60685477	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60710487	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60827697	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60945352	0.81[AMR][1000 genomes]
rs60989271	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61364693	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62095829	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs66470739	0.92[EUR][1000 genomes]
rs66494849	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6650609	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6650616	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6650617	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66559751	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66685204	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66688868	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66929859	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs66935882	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67084247	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67258461	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs67334724	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67357574	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67432911	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67565680	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs67675517	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67765196	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67838921	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs67863818	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67868710	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67955156	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68051414	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs68169869	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7228940	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7233578	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7236172	0.95[EUR][1000 genomes]
rs7236987	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7243276	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7243536	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7243597	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72636759	0.83[AMR][1000 genomes]
rs72636760	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72636761	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8084728	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8088543	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8090759	0.92[EUR][1000 genomes]
rs8091992	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8092992	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8093363	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8093650	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8094351	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9952452	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
7	nsv1062413	chr18:12988947-13039941	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv543657	chr18:12988947-13039941	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr18:13024800-13039800	Strong transcription	Fetal Muscle Leg	muscle
18	chr18:13028400-13052000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr18:13030000-13048600	Weak transcription	Brain Substantia Nigra	brain
20	chr18:13031000-13040600	Strong transcription	Fetal Stomach	stomach
21	chr18:13031000-13048400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr18:13031000-13048600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr18:13032000-13047000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr18:13032000-13048000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr18:13032000-13048200	Weak transcription	Colon Smooth Muscle	Colon
26	chr18:13032000-13056000	Weak transcription	HSMMtube	muscle
27	chr18:13032200-13042000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr18:13032200-13043000	Weak transcription	Pancreas	Pancrea
29	chr18:13032400-13041000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr18:13032400-13048600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr18:13032600-13041600	Weak transcription	A549	lung
32	chr18:13032600-13042000	Weak transcription	Brain Hippocampus Middle	brain
33	chr18:13032600-13048600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr18:13032800-13042000	Weak transcription	NH-A	brain
35	chr18:13033000-13041800	Weak transcription	Brain Germinal Matrix	brain
36	chr18:13033000-13042200	Weak transcription	Fetal Kidney	kidney
37	chr18:13033000-13043000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr18:13033000-13046000	Weak transcription	Brain Angular Gyrus	brain
39	chr18:13033000-13046000	Weak transcription	Spleen	Spleen
40	chr18:13033000-13047200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr18:13033000-13052200	Weak transcription	Fetal Brain Male	brain
42	chr18:13033200-13041800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr18:13033200-13041800	Weak transcription	Placenta	Placenta
44	chr18:13033200-13042000	Weak transcription	Osteobl	bone
45	chr18:13033400-13053800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr18:13033600-13042200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr18:13033600-13046800	Weak transcription	HepG2	liver
48	chr18:13033800-13042000	Weak transcription	NHDF-Ad	bronchial
49	chr18:13033800-13042200	Weak transcription	HSMM	muscle
50	chr18:13034000-13042000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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