Variant report

Variant	nsv615014
Chromosome Location	chr9:104837536-104857475
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:104846252..104847873-chr9:104851668..104854284,2	K562	blood:
2	chr9:104828978..104830886-chr9:104836828..104839477,2	K562	blood:
3	chr9:104846252..104847873-chr9:104851668..104854284,2	K562	blood:

Extended variants
information (count: 242 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:242 , 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	rs320290	chr9:104837536-104837537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557353616	chr9:104837537-104837538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532148012	chr9:104837547-104837548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10989800	chr9:104837559-104837560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs546360340	chr9:104837574-104837575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191433633	chr9:104837581-104837582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183229021	chr9:104837593-104837594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187848160	chr9:104837615-104837616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558531084	chr9:104837700-104837701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79999659	chr9:104837736-104837737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531209120	chr9:104837740-104837741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193148906	chr9:104837846-104837847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs320289	chr9:104837851-104837852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542740438	chr9:104837871-104837872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554232805	chr9:104837966-104837967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532760318	chr9:104837993-104837994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34109171	chr9:104838071-104838072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537049160	chr9:104838133-104838134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185196178	chr9:104838161-104838162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112913720	chr9:104838245-104838246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535303624	chr9:104838262-104838263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549131520	chr9:104838287-104838288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73498554	chr9:104838319-104838320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs146965346	chr9:104838360-104838361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190118796	chr9:104838363-104838364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577359402	chr9:104838616-104838617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11999756	chr9:104838634-104838635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138037062	chr9:104838661-104838662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192843290	chr9:104838668-104838669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117300276	chr9:104838709-104838710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562338114	chr9:104838737-104838738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs66506342	chr9:104838808-104838809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs184001392	chr9:104838828-104838829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114998693	chr9:104838871-104838872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532772269	chr9:104838876-104838877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546152154	chr9:104838908-104838909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200449466	chr9:104838919-104838920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10989801	chr9:104838920-104838921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs370252325	chr9:104838922-104838923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577970651	chr9:104838925-104838926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529011480	chr9:104838980-104838981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139048457	chr9:104838981-104838982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs398113712	chr9:104838987-104838988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548686324	chr9:104838988-104838989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199553768	chr9:104839006-104839007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55844302	chr9:104839019-104839020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553510879	chr9:104839056-104839057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10989802	chr9:104839094-104839095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs10989803	chr9:104839152-104839153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs200761639	chr9:104839224-104839225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Melanoma	18172304	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
Acute myeloid leukemia	21251322	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
Gastrointestinal stromal cancer	20877625	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
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104835000-104839200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr9:104835000-104842400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:104839200-104840000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr9:104842400-104842600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr9:104849400-104850000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr9:104849600-104850000	Enhancers	HUES48 Cell Line	embryonic stem cell

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