Variant report

Variant	esv3316504
Chromosome Location	chr18:11559033-11565482
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 240 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9303740	chr18:11559059-11559060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543539924	chr18:11559070-11559071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558747328	chr18:11559097-11559098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576950285	chr18:11559100-11559101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578251027	chr18:11559111-11559112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527687052	chr18:11559228-11559229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10853209	chr18:11559234-11559235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs560941489	chr18:11559241-11559242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531716476	chr18:11559270-11559271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549991344	chr18:11559315-11559316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571825999	chr18:11559318-11559319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375969431	chr18:11559331-11559332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548071455	chr18:11559333-11559334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566202969	chr18:11559357-11559358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559342230	chr18:11559397-11559398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536938140	chr18:11559406-11559407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561225895	chr18:11559408-11559409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569647861	chr18:11559426-11559427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192205142	chr18:11559439-11559440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558337139	chr18:11559472-11559473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576992125	chr18:11559477-11559478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528511012	chr18:11559495-11559496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184734886	chr18:11559553-11559554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553122459	chr18:11559559-11559560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370911681	chr18:11559578-11559579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs8092947	chr18:11559584-11559585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs547087465	chr18:11559648-11559649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541697556	chr18:11559650-11559651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560980436	chr18:11559662-11559663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189552269	chr18:11559676-11559677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543916991	chr18:11559717-11559718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565186435	chr18:11559719-11559720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192194434	chr18:11559726-11559727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547716854	chr18:11559743-11559744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138280331	chr18:11559771-11559772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530445650	chr18:11559808-11559809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs650189	chr18:11559815-11559816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs532534289	chr18:11559829-11559830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370291348	chr18:11559834-11559835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201877123	chr18:11559837-11559838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547814	chr18:11559838-11559839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536616878	chr18:11559856-11559857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552254188	chr18:11559881-11559882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570492106	chr18:11559931-11559932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533201689	chr18:11559945-11559946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534710500	chr18:11559962-11559963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184414169	chr18:11560012-11560013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574275362	chr18:11560068-11560069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139435587	chr18:11560089-11560090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556809097	chr18:11560107-11560108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
abnormal development	18461090	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11552400-11572000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:11560000-11560800	Enhancers	Primary B cells from peripheral blood	blood
3	chr18:11560000-11560800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:11560000-11562200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr18:11560000-11562800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr18:11560200-11560400	Flanking Active TSS	GM12878-XiMat	blood
7	chr18:11560200-11560600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:11560400-11560600	Enhancers	GM12878-XiMat	blood
9	chr18:11560800-11561600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr18:11561200-11561600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr18:11561200-11561800	Enhancers	Brain Angular Gyrus	brain
12	chr18:11561600-11562400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr18:11562200-11565200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr18:11562800-11565800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr18:11565200-11566400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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