Variant report

Variant	esv11123
Chromosome Location	chr18:12060720-12063440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:12061471-12061715	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr18:12061555-12061727	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr18:12061620-12061770	HepG2	liver:	n/a	n/a
4	NR2F2	chr18:12062859-12063183	K562	blood:	n/a	n/a
5	NR2F2	chr18:12062808-12063304	MCF-7	breast:	n/a	n/a
6	ZNF263	chr18:12061797-12062164	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12063010..12065990-chr19:13351067..13352603,2	MCF-7	breast:
2	chr18:12057151..12059400-chr18:12062481..12064510,2	K562	blood:

Variant related genes	Relation type
ENSG00000212712	TF binding region
ENSG00000212712	chromatin interactions

Extended variants
information (count: 167 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12965945	chr18:12060725-12060726	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567805338	chr18:12060738-12060739	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs528988357	chr18:12060746-12060747	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs374896184	chr18:12060761-12060762	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs73947228	chr18:12060802-12060803	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550483294	chr18:12060803-12060804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs59800924	chr18:12060836-12060837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377486585	chr18:12060891-12060892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539432457	chr18:12060999-12061000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557725811	chr18:12061042-12061043	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566763849	chr18:12061108-12061109	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71172048	chr18:12061119-12061120	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533975537	chr18:12061120-12061121	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111883686	chr18:12061144-12061145	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574973232	chr18:12061155-12061156	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192609967	chr18:12061173-12061174	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535982639	chr18:12061190-12061191	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557450521	chr18:12061196-12061197	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115023924	chr18:12061198-12061199	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546189954	chr18:12061215-12061216	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34071448	chr18:12061218-12061219	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs573241207	chr18:12061222-12061223	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77702039	chr18:12061237-12061238	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12953485	chr18:12061266-12061267	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs573482965	chr18:12061279-12061280	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12970450	chr18:12061288-12061289	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs12970461	chr18:12061346-12061347	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs562610582	chr18:12061393-12061394	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532747520	chr18:12061394-12061395	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184215401	chr18:12061407-12061408	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566645335	chr18:12061408-12061409	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377408209	chr18:12061423-12061424	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371600226	chr18:12061446-12061447	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549180734	chr18:12061460-12061461	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189584070	chr18:12061494-12061495	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs146939281	chr18:12061508-12061509	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs538055580	chr18:12061512-12061513	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs557137074	chr18:12061515-12061516	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs71351446	chr18:12061518-12061519	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs575738127	chr18:12061520-12061521	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs137869329	chr18:12061521-12061522	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs374520196	chr18:12061571-12061572	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs12953958	chr18:12061583-12061584	Weak transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs573175881	chr18:12061594-12061595	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs540497319	chr18:12061599-12061600	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs562059536	chr18:12061612-12061613	Weak transcription Genic enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs573854886	chr18:12061661-12061662	Weak transcription Genic enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs116695105	chr18:12061691-12061692	Weak transcription Genic enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs111370111	chr18:12061706-12061707	Weak transcription Genic enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs73947230	chr18:12061721-12061722	Weak transcription Genic enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	20531469	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12054200-12063400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:12055600-12076400	Weak transcription	Right Atrium	heart
3	chr18:12056400-12061600	Weak transcription	Spleen	Spleen
4	chr18:12059800-12060800	Enhancers	A549	lung
5	chr18:12060000-12060800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:12060000-12060800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr18:12060200-12061000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:12060800-12064400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr18:12061000-12062200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:12061600-12062000	Active TSS	Spleen	Spleen
11	chr18:12061800-12062000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:12062000-12064400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr18:12062000-12064400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:12062200-12064400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr18:12063000-12063200	Enhancers	Right Ventricle	heart

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