Variant report

Variant	nsv437650
Chromosome Location	chr9:107988197-107994629
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:107989785..107992485-chr9:107999468..108001014,2	MCF-7	breast:
2	chr9:107993056..107995506-chr9:107999251..108000803,2	MCF-7	breast:
3	chr9:107983423..107986241-chr9:107988114..107989665,2	K562	blood:
4	chr9:107993075..107994603-chr9:107998043..108000828,2	MCF-7	breast:
5	chr9:107990853..107992925-chr9:108005176..108007091,2	MCF-7	breast:
6	chr9:107986788..107989562-chr9:108004560..108006596,2	K562	blood:
7	chr9:107986434..107988530-chr9:108007277..108010113,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070214	chromatin interactions

Extended variants
information (count: 249 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:249 , 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	rs446641	chr9:107988197-107988198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183511807	chr9:107988223-107988224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553779942	chr9:107988272-107988273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148013402	chr9:107988277-107988278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190722961	chr9:107988368-107988369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546147163	chr9:107988442-107988443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76894870	chr9:107988469-107988470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576436103	chr9:107988475-107988476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373046035	chr9:107988528-107988529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537731895	chr9:107988538-107988539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79139676	chr9:107988603-107988604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562258508	chr9:107988606-107988607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529639938	chr9:107988615-107988616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142431207	chr9:107988616-107988617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568321626	chr9:107988783-107988784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560052897	chr9:107988784-107988785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142431529	chr9:107988801-107988802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367602441	chr9:107988852-107988853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144812393	chr9:107988892-107988893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556814094	chr9:107988902-107988903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531423744	chr9:107988905-107988906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536284277	chr9:107988920-107988921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549610051	chr9:107988923-107988924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567894605	chr9:107988930-107988931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556131076	chr9:107988932-107988933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535883620	chr9:107988965-107988966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553669327	chr9:107988967-107988968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs391943	chr9:107988986-107988987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs539453800	chr9:107989035-107989036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62575068	chr9:107989041-107989042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182229840	chr9:107989043-107989044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576502751	chr9:107989081-107989082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543896536	chr9:107989082-107989083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556028912	chr9:107989086-107989087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28538626	chr9:107989089-107989090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs540640288	chr9:107989095-107989096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559313567	chr9:107989097-107989098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560091428	chr9:107989154-107989155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533632049	chr9:107989167-107989168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545518758	chr9:107989220-107989221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377129	chr9:107989399-107989400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs545094260	chr9:107989408-107989409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375292730	chr9:107989409-107989410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531335836	chr9:107989461-107989462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576784331	chr9:107989466-107989467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549452487	chr9:107989490-107989491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187336220	chr9:107989504-107989505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558775533	chr9:107989537-107989538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72744219	chr9:107989590-107989591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs547143067	chr9:107989654-107989655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:107980000-107989400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:107987800-108002400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr9:107991000-107991600	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr9:107991000-107991600	Enhancers	Rectal Smooth Muscle	rectum
5	chr9:107991000-107991600	Enhancers	HepG2	liver
6	chr9:107993600-107995200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:107994200-107997400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:107994400-107994600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:107994400-107994600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:107994400-107995200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr9:107994600-107995200	Enhancers	HSMM	muscle

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