Variant report

Variant	nsv130708
Chromosome Location	chr18:11679607-11681299
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	chr18:11675703..11677385-chr18:11679349..11680961,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180937474	chr18:11679656-11679657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547121492	chr18:11679664-11679665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568455243	chr18:11679666-11679667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185450285	chr18:11679694-11679695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188590980	chr18:11679724-11679725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9956176	chr18:11679728-11679729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs567525542	chr18:11679729-11679730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558128320	chr18:11679745-11679746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372165508	chr18:11679778-11679779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375342269	chr18:11679783-11679784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535032980	chr18:11679812-11679813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367753247	chr18:11679822-11679823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561855611	chr18:11679844-11679845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573756904	chr18:11679847-11679848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113692358	chr18:11679864-11679865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562685814	chr18:11679889-11679890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs118040263	chr18:11679923-11679924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551654472	chr18:11679939-11679940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181431511	chr18:11679961-11679962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371196519	chr18:11679991-11679992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528530730	chr18:11679994-11679995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139379594	chr18:11680104-11680105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568570420	chr18:11680109-11680110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376288043	chr18:11680117-11680118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115660123	chr18:11680130-11680131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78056687	chr18:11680162-11680163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532334153	chr18:11680174-11680175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569118666	chr18:11680316-11680317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544271396	chr18:11680321-11680322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35631561	chr18:11680343-11680344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149271299	chr18:11680373-11680374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575510916	chr18:11680475-11680476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144471621	chr18:11680517-11680518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533811449	chr18:11680556-11680557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202075754	chr18:11680573-11680574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75802751	chr18:11680612-11680613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555256616	chr18:11680642-11680643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573513876	chr18:11680673-11680674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79193684	chr18:11680674-11680675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186717105	chr18:11680771-11680772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139081142	chr18:11680772-11680773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs398120179	chr18:11680773-11680774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77696748	chr18:11680812-11680813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79806344	chr18:11680843-11680844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112725325	chr18:11680844-11680845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560434561	chr18:11680850-11680851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375483516	chr18:11680856-11680857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527571619	chr18:11680870-11680871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549233617	chr18:11680882-11680883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369478884	chr18:11680901-11680902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11677200-11688400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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