Variant report

Variant	nsv6558
Chromosome Location	chr9:73589091-73600375
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:73596683..73598407-chr9:73611947..73614537,2	K562	blood:
2	chr9:73592208..73595932-chr9:73600747..73604403,3	K562	blood:
3	chr9:73580365..73583283-chr9:73595692..73597303,2	K562	blood:

Extended variants
information (count: 279 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542575132	chr9:73589114-73589115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146799046	chr9:73589178-73589179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183006778	chr9:73589182-73589183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371202865	chr9:73589183-73589184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573394893	chr9:73589210-73589211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540398217	chr9:73589224-73589225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371253770	chr9:73589250-73589251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562194470	chr9:73589251-73589252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs386734875	chr9:73589256-73589257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149208553	chr9:73589259-73589260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12345778	chr9:73589271-73589272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573998751	chr9:73589272-73589273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77049293	chr9:73589286-73589287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535202965	chr9:73589289-73589290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562454289	chr9:73589312-73589313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533026598	chr9:73589347-73589348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187304159	chr9:73589382-73589383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553194246	chr9:73589411-73589412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368032471	chr9:73589421-73589422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527466599	chr9:73589434-73589435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112439344	chr9:73589455-73589456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142598252	chr9:73589456-73589457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397894167	chr9:73589457-73589458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62543211	chr9:73589468-73589469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142771561	chr9:73589472-73589473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74510700	chr9:73589483-73589484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549462171	chr9:73589484-73589485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146955476	chr9:73589487-73589488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537444942	chr9:73589529-73589530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73468171	chr9:73589539-73589540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs141631786	chr9:73589542-73589543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62543212	chr9:73589546-73589547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs138288368	chr9:73589648-73589649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11142653	chr9:73589679-73589680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs573508761	chr9:73589707-73589708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191704785	chr9:73589732-73589733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13293895	chr9:73589751-73589752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115859896	chr9:73589752-73589753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11142654	chr9:73589761-73589762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs574041846	chr9:73589822-73589823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544297967	chr9:73589833-73589834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372050382	chr9:73589845-73589846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182936140	chr9:73589862-73589863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111513709	chr9:73589896-73589897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113815343	chr9:73589918-73589919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149316628	chr9:73589925-73589926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187484542	chr9:73589937-73589938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530172402	chr9:73590015-73590016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11142655	chr9:73590046-73590047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs11142656	chr9:73590073-73590074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73588800-73591400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:73590600-73591400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:73591200-73591800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr9:73591400-73591600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:73592800-73593200	Enhancers	Stomach Mucosa	stomach
6	chr9:73593200-73593400	Weak transcription	Stomach Mucosa	stomach
7	chr9:73593400-73593800	Enhancers	Stomach Mucosa	stomach
8	chr9:73593800-73594600	Weak transcription	Stomach Mucosa	stomach
9	chr9:73594000-73595600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:73594600-73595000	Enhancers	Stomach Mucosa	stomach
11	chr9:73595000-73595600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr9:73595000-73595800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:73596000-73596400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:73598400-73599400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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