Variant report

Variant	nsv962496
Chromosome Location	chr18:14463169-14465919
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564089352	chr18:14463171-14463172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542348910	chr18:14463181-14463182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546713617	chr18:14463186-14463187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71332257	chr18:14463197-14463198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560527513	chr18:14463198-14463199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529004263	chr18:14463199-14463200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549162328	chr18:14463208-14463209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71319587	chr18:14463253-14463254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182492693	chr18:14463272-14463273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187525771	chr18:14463277-14463278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551419202	chr18:14463296-14463297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71332256	chr18:14463311-14463312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71332255	chr18:14463334-14463335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71332254	chr18:14463347-14463348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71332253	chr18:14463351-14463352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71328357	chr18:14463365-14463366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571605504	chr18:14463391-14463392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377553202	chr18:14463416-14463417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533979230	chr18:14463424-14463425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553755092	chr18:14463434-14463435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144722846	chr18:14463468-14463469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536362943	chr18:14463477-14463478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556692973	chr18:14463508-14463509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112501641	chr18:14463509-14463510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576591244	chr18:14463539-14463540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545671112	chr18:14463543-14463544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565483140	chr18:14463562-14463563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572700583	chr18:14463585-14463586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62080645	chr18:14463595-14463596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560203706	chr18:14463626-14463627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144303167	chr18:14463640-14463641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549127617	chr18:14463641-14463642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191883951	chr18:14463679-14463680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562686812	chr18:14463687-14463688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531446035	chr18:14463714-14463715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563375153	chr18:14463743-14463744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551650765	chr18:14463783-14463784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571405854	chr18:14463799-14463800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544522800	chr18:14463800-14463801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527590653	chr18:14463805-14463806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142642585	chr18:14463839-14463840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567347362	chr18:14463857-14463858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556402445	chr18:14463873-14463874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536328056	chr18:14463875-14463876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183916593	chr18:14463889-14463890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556419471	chr18:14463891-14463892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570223789	chr18:14463892-14463893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574782064	chr18:14463896-14463897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538807694	chr18:14463923-14463924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559113968	chr18:14463990-14463991	Weak transcription	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
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14458600-14470000	Weak transcription	Osteobl	bone
2	chr18:14465600-14465800	Enhancers	HMEC	breast
3	chr18:14465800-14466600	Weak transcription	HMEC	breast

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