Variant report

Variant	rs511573
Chromosome Location	chr18:175140-175141
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	chr18:173629..175507-chr18:185992..188221,2	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11663945	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877873	1.00[ASN][1000 genomes]
rs1274276	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1784375	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3132798	1.00[ASN][1000 genomes]
rs34132492	1.00[ASN][1000 genomes]
rs35228921	1.00[ASN][1000 genomes]
rs472780	1.00[ASN][1000 genomes]
rs477718	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs478096	1.00[ASN][1000 genomes]
rs484168	1.00[ASN][1000 genomes]
rs485211	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs489947	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500596	1.00[ASN][1000 genomes]
rs505610	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs507184	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510589	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527035	1.00[ASN][1000 genomes]
rs530926	1.00[ASN][1000 genomes]
rs533992	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537202	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538786	1.00[ASN][1000 genomes]
rs541733	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs543184	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs547590	1.00[ASN][1000 genomes]
rs551835	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs553212	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs562117	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs562748	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs563155	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565653	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs566748	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572981	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585793	1.00[ASN][1000 genomes]
rs592537	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598162	1.00[ASN][1000 genomes]
rs598617	1.00[ASN][1000 genomes]
rs605049	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs605877	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs609865	1.00[ASN][1000 genomes]
rs610712	1.00[ASN][1000 genomes]
rs617421	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs621979	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636436	1.00[ASN][1000 genomes]
rs644363	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645560	1.00[ASN][1000 genomes]
rs650695	1.00[ASN][1000 genomes]
rs652079	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652504	1.00[ASN][1000 genomes]
rs653301	1.00[ASN][1000 genomes]
rs654019	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs655983	1.00[ASN][1000 genomes]
rs659997	1.00[ASN][1000 genomes]
rs674727	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680201	1.00[ASN][1000 genomes]
rs680418	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs681760	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs688023	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs692846	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909285	chr18:10001-196829	Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1059509	chr18:11543-190140	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Flanking Active TSS 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 miRNA target site	14 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	esv3406270	chr18:151001-180091	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
27	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs511573	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	chr18:159400-186000	Weak transcription	Aorta	Aorta
2	chr18:159600-199000	Weak transcription	Colonic Mucosa	Colon
3	chr18:159800-191400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr18:159800-199200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:160000-203000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr18:160200-180400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr18:160200-210800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr18:160200-218000	Weak transcription	Stomach Mucosa	stomach
9	chr18:160200-218400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:160600-203200	Weak transcription	Psoas Muscle	Psoas
11	chr18:160800-176600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:160800-183600	Weak transcription	Fetal Heart	heart
13	chr18:160800-183600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr18:161000-178400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr18:161000-185600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr18:161200-175200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr18:161400-175600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr18:161400-180400	Weak transcription	Small Intestine	intestine
19	chr18:162200-180200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr18:162400-180600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr18:162800-175800	Strong transcription	Dnd41	blood
22	chr18:163200-175200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr18:163200-175400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr18:163200-176600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr18:163400-176000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr18:164400-177600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr18:165600-175400	Strong transcription	HepG2	liver
28	chr18:165600-196800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr18:165800-175400	Strong transcription	Primary hematopoietic stem cells	blood
30	chr18:166000-183800	Weak transcription	Colon Smooth Muscle	Colon
31	chr18:168600-178400	Weak transcription	NHDF-Ad	bronchial
32	chr18:168800-178000	Weak transcription	Pancreas	Pancrea
33	chr18:168800-196800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr18:168800-198200	Weak transcription	Spleen	Spleen
35	chr18:169400-184400	Weak transcription	Lung	lung
36	chr18:170000-178200	Weak transcription	HUVEC	blood vessel
37	chr18:170000-180200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr18:170000-180200	Weak transcription	Fetal Kidney	kidney
39	chr18:170000-180400	Weak transcription	Brain Hippocampus Middle	brain
40	chr18:170200-177800	Weak transcription	NHEK	skin
41	chr18:170400-180400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr18:170800-179400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr18:171000-179800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr18:171000-180200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr18:171000-180200	Weak transcription	Left Ventricle	heart
46	chr18:171000-180200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr18:171000-184400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr18:171000-184400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr18:171400-180200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr18:171400-180200	Weak transcription	Brain Angular Gyrus	brain

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