Variant report

Variant	nsv978566
Chromosome Location	chr18:8865963-8867732
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8856621..8858928-chr18:8866174..8867957,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376507448	chr18:8865974-8865975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568346114	chr18:8865992-8865993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs675697	chr18:8866127-8866128	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs201763168	chr18:8866150-8866151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569051874	chr18:8866180-8866181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376364106	chr18:8866194-8866195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35977606	chr18:8866206-8866207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145538361	chr18:8866208-8866209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558233269	chr18:8866217-8866218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569932570	chr18:8866220-8866221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117772563	chr18:8866238-8866239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545342737	chr18:8866246-8866247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147710478	chr18:8866263-8866264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573973389	chr18:8866287-8866288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76828611	chr18:8866302-8866303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149223631	chr18:8866318-8866319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533576603	chr18:8866335-8866336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565182428	chr18:8866342-8866343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117610522	chr18:8866401-8866402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564162194	chr18:8866408-8866409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114995109	chr18:8866459-8866460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374796670	chr18:8866466-8866467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546601156	chr18:8866483-8866484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143368063	chr18:8866491-8866492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs673864	chr18:8866528-8866529	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs529812284	chr18:8866544-8866545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549581500	chr18:8866562-8866563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550862659	chr18:8866584-8866585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs689900	chr18:8866585-8866586	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs673730	chr18:8866616-8866617	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs552145799	chr18:8866617-8866618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551324934	chr18:8866623-8866624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566607980	chr18:8866688-8866689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374728115	chr18:8866712-8866713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534054887	chr18:8866730-8866731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4797335	chr18:8866740-8866741	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs117218376	chr18:8866787-8866788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112388631	chr18:8866798-8866799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556813855	chr18:8866813-8866814	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs578217315	chr18:8866856-8866857	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs150933311	chr18:8866866-8866867	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs4797336	chr18:8866936-8866937	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs560696555	chr18:8866994-8866995	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs572949997	chr18:8867013-8867014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115966849	chr18:8867031-8867032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567979384	chr18:8867053-8867054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10663988	chr18:8867060-8867061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs16954471	chr18:8867068-8867069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs4797337	chr18:8867113-8867114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs200874057	chr18:8867136-8867137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Melanoma	18172304	CNVD
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
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
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8865000-8866400	Enhancers	Placenta Amnion	Placenta Amnion
2	chr18:8865000-8867000	Enhancers	K562	blood
3	chr18:8865200-8866200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr18:8865600-8866000	Enhancers	NHEK	skin
5	chr18:8865600-8866400	Enhancers	Placenta	Placenta
6	chr18:8865600-8867000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr18:8866000-8869800	Weak transcription	NHEK	skin
8	chr18:8866200-8869400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr18:8866400-8869000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr18:8866800-8867000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr18:8866800-8867000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr18:8867000-8868000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr18:8867000-8868200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr18:8867000-8868200	Weak transcription	K562	blood

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