Variant report

Variant	rs510589
Chromosome Location	chr18:223189-223190
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:222084..224693-chr18:231367..235268,3	K562	blood:
2	chr18:219579..224693-chr18:231367..234811,5	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11663945	1.00[ASN][1000 genomes]
rs11877873	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274276	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1784375	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3132798	1.00[ASN][1000 genomes]
rs34132492	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35228921	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs472780	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs477718	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs478096	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484168	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs485211	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs489947	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500596	1.00[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs505610	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs507184	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511573	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527035	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530926	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533992	0.94[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536825	0.86[EUR][1000 genomes]
rs537202	0.94[CEU][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538786	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541733	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs543184	0.95[CEU][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs547590	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551835	0.94[CEU][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs553212	0.94[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs562117	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs562748	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs563155	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565653	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs566748	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572981	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585793	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs592537	0.94[CEU][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598162	0.94[CEU][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598617	0.95[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs605049	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs605877	0.95[CEU][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs609865	0.83[CEU][hapmap];1.00[ASN][1000 genomes]
rs610712	0.87[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs617421	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs621979	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636436	0.95[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs644363	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645560	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs650695	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652079	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652504	1.00[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs653301	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs654019	0.89[CEU][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs655983	0.94[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659997	0.94[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs674727	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680201	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680418	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs681760	0.94[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs688023	0.83[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs692846	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064673	chr18:11543-249310	Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1061730	chr18:11543-322183	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1059645	chr18:11543-326679	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv576227	chr18:52933-322183	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1064150	chr18:99036-321710	Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1055303	chr18:112328-304352	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv543527	chr18:112328-304352	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv543530	chr18:112528-932674	Weak transcription Strong transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv1067102	chr18:112528-984688	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
10	nsv543531	chr18:112528-984688	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
11	nsv1066441	chr18:136228-249310	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv1057029	chr18:141491-356238	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv1066995	chr18:141491-415027	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv1064735	chr18:141491-483651	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
15	nsv1062680	chr18:141491-549166	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
16	nsv1067218	chr18:141491-603796	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	nsv543544	chr18:141491-675519	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
18	nsv1064998	chr18:141491-1095845	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
19	nsv543545	chr18:141491-1095845	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
20	nsv1057105	chr18:143546-235928	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
21	nsv531216	chr18:148763-293736	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
22	nsv532441	chr18:148763-1108997	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
23	nsv530373	chr18:148963-533693	Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
24	nsv482910	chr18:161390-305010	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
25	nsv518642	chr18:196829-331506	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
26	nsv1067432	chr18:219990-290812	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
27	nsv948987	chr18:220071-461872	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
28	nsv948735	chr18:220071-615394	Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs510589	USP14	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:193400-227000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr18:195200-231200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr18:195400-228000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr18:195400-233000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr18:199800-251000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr18:208800-227200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr18:209200-228200	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr18:209400-230000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr18:209400-230000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr18:210200-228000	Strong transcription	Osteobl	bone
11	chr18:210400-224000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr18:210800-225400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr18:212000-256400	Weak transcription	Gastric	stomach
14	chr18:214400-251600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:214400-252000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr18:215800-244000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr18:217000-223800	Weak transcription	Brain Substantia Nigra	brain
18	chr18:217200-247000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr18:218000-229400	Weak transcription	Fetal Intestine Small	intestine
20	chr18:218000-267400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:218200-245400	Weak transcription	Aorta	Aorta
22	chr18:218400-245600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr18:218600-223400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr18:218600-223800	Weak transcription	Ovary	ovary
25	chr18:218600-226000	Weak transcription	Thymus	Thymus
26	chr18:218600-226200	Weak transcription	Brain Germinal Matrix	brain
27	chr18:218600-226200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr18:218600-227600	Weak transcription	Fetal Stomach	stomach
29	chr18:218600-227600	Weak transcription	Lung	lung
30	chr18:218600-240800	Weak transcription	Spleen	Spleen
31	chr18:218600-244800	Weak transcription	Psoas Muscle	Psoas
32	chr18:218600-245200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr18:218600-245400	Weak transcription	Esophagus	oesophagus
34	chr18:218600-245600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr18:218600-245600	Weak transcription	Brain Angular Gyrus	brain
36	chr18:218600-248200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr18:218600-250400	Weak transcription	Colonic Mucosa	Colon
38	chr18:218600-261400	Weak transcription	Pancreas	Pancrea
39	chr18:218600-267200	Weak transcription	Stomach Mucosa	stomach
40	chr18:218800-223400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr18:218800-223400	Weak transcription	Fetal Brain Female	brain
42	chr18:218800-223800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr18:218800-224600	Weak transcription	NHEK	skin
44	chr18:218800-241000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr18:218800-241400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr18:219000-223200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr18:219000-223200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr18:219000-223400	Weak transcription	Brain Hippocampus Middle	brain
49	chr18:219000-225000	Weak transcription	Fetal Heart	heart
50	chr18:219000-225000	Weak transcription	HepG2	liver

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