Variant report

Variant	nsv471311
Chromosome Location	chr9:73902148-73916953
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 459 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13285637	chr9:73902148-73902149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141737056	chr9:73902153-73902154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191598524	chr9:73902173-73902174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145490774	chr9:73902246-73902247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2309916	chr9:73902263-73902264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs4370599	chr9:73902334-73902335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs531110408	chr9:73902345-73902346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4370600	chr9:73902376-73902377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs531157231	chr9:73902377-73902378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138109682	chr9:73902442-73902443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112799886	chr9:73902443-73902444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1504388	chr9:73902470-73902471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs552325582	chr9:73902506-73902507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142685692	chr9:73902507-73902508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370252090	chr9:73902514-73902515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376037481	chr9:73902553-73902554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534822454	chr9:73902561-73902562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181400954	chr9:73902562-73902563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74968053	chr9:73902566-73902567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75873949	chr9:73902567-73902568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150500930	chr9:73902612-73902613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185834833	chr9:73902616-73902617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546812892	chr9:73902638-73902639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139469142	chr9:73902642-73902643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114925966	chr9:73902659-73902660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1504389	chr9:73902671-73902672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs559430864	chr9:73902692-73902693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190293904	chr9:73902702-73902703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542406658	chr9:73902750-73902751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562175358	chr9:73902752-73902753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375255190	chr9:73902753-73902754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76705136	chr9:73902772-73902773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534755898	chr9:73902811-73902812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149259629	chr9:73902813-73902814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558993536	chr9:73902822-73902823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544939620	chr9:73902823-73902824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182455130	chr9:73902875-73902876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187713036	chr9:73902881-73902882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552258692	chr9:73902895-73902896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79580718	chr9:73902921-73902922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1504390	chr9:73902927-73902928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs377619001	chr9:73902939-73902940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548343219	chr9:73902980-73902981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555177643	chr9:73902992-73902993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190894637	chr9:73903000-73903001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7854181	chr9:73903006-73903007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs375902006	chr9:73903010-73903011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570472329	chr9:73903024-73903025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199664172	chr9:73903109-73903110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570777977	chr9:73903113-73903114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Malignant melanoma	17260012	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73901400-73903400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr9:73901600-73903400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr9:73901600-73906800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:73903400-73903600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:73903400-73903800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr9:73903400-73904000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr9:73903600-73903800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:73904000-73906800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr9:73906000-73906600	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr9:73906600-73907600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr9:73906800-73907000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:73906800-73907200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr9:73907600-73908000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr9:73908000-73909400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr9:73909400-73910000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr9:73909600-73910200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:73910000-73911000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr9:73911000-73911200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr9:73915200-73915800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr9:73915400-73916200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr9:73916000-73916200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:73916200-73917200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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