Variant report

Variant	nsv960261
Chromosome Location	chr18:14669634-14709748
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559122683	chr18:14692834-14692835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533537860	chr18:14692872-14692873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553859931	chr18:14692896-14692897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573675249	chr18:14692899-14692900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536310095	chr18:14692936-14692937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28850603	chr18:14692988-14692989	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs4017926	chr18:14692996-14692997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4017927	chr18:14693007-14693008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575829697	chr18:14693013-14693014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544943136	chr18:14693057-14693058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564823393	chr18:14693058-14693059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572435763	chr18:14693059-14693060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541091099	chr18:14693070-14693071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71364821	chr18:14693100-14693101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530144171	chr18:14693163-14693164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550249024	chr18:14693192-14693193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4017928	chr18:14693197-14693198	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs532739648	chr18:14693198-14693199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2919923	chr18:14693204-14693205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563262590	chr18:14693214-14693215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191823133	chr18:14693228-14693229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183898493	chr18:14693240-14693241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2919925	chr18:14693243-14693244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs28558801	chr18:14693275-14693276	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs189730567	chr18:14693384-14693385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547092229	chr18:14693392-14693393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs28484888	chr18:14693393-14693394	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs192931725	chr18:14693428-14693429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555831966	chr18:14693451-14693452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374139193	chr18:14693459-14693460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12954284	chr18:14693473-14693474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185101099	chr18:14693495-14693496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190577750	chr18:14693541-14693542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558692153	chr18:14693563-14693564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1809837	chr18:14693572-14693573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572268768	chr18:14693596-14693597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541281324	chr18:14693637-14693638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561126696	chr18:14693647-14693648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1782910	chr18:14693664-14693665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1782887	chr18:14693694-14693695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143377899	chr18:14693730-14693731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181900961	chr18:14693808-14693809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563754059	chr18:14693809-14693810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532781232	chr18:14693813-14693814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552825834	chr18:14693820-14693821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1782911	chr18:14693825-14693826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559861446	chr18:14693845-14693846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528790322	chr18:14693869-14693870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376643100	chr18:14693873-14693874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567192897	chr18:14693937-14693938	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
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
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
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
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14692800-14694200	Enhancers	Placenta	Placenta
2	chr18:14697200-14697600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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