Variant report

Variant	nsv972782
Chromosome Location	chr9:96097949-96099075
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374726529	chr9:96097963-96097964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569007261	chr9:96097988-96097989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533094879	chr9:96098011-96098012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551736879	chr9:96098031-96098032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566754509	chr9:96098032-96098033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200835088	chr9:96098108-96098109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201792776	chr9:96098109-96098110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200532275	chr9:96098114-96098115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201315579	chr9:96098134-96098135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537901146	chr9:96098198-96098199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556494402	chr9:96098199-96098200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200912595	chr9:96098219-96098220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62574461	chr9:96098374-96098375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545175038	chr9:96098375-96098376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201581751	chr9:96098456-96098457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559223274	chr9:96098465-96098466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560900420	chr9:96098488-96098489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531732315	chr9:96098549-96098550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187850799	chr9:96098599-96098600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202162526	chr9:96098610-96098611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35404003	chr9:96098632-96098633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374604280	chr9:96098639-96098640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533183160	chr9:96098671-96098672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140278461	chr9:96098731-96098732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144413584	chr9:96098732-96098733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527543499	chr9:96098743-96098744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577598866	chr9:96098745-96098746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146597986	chr9:96098762-96098763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397834751	chr9:96098789-96098790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374454425	chr9:96098810-96098811	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115585685	chr9:96098827-96098828	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74778121	chr9:96098828-96098829	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2257992	chr9:96098839-96098840	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370756641	chr9:96098844-96098845	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571251380	chr9:96098873-96098874	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191806409	chr9:96098897-96098898	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs16909069	chr9:96098930-96098931	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs73514552	chr9:96098990-96098991	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs77098571	chr9:96098994-96098995	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554683725	chr9:96099001-96099002	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2841676	chr9:96099009-96099010	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543433503	chr9:96099027-96099028	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375016777	chr9:96099044-96099045	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183724956	chr9:96099049-96099050	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577407474	chr9:96099068-96099069	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96068400-96100400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr9:96081000-96100600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:96083200-96100400	Weak transcription	Fetal Stomach	stomach
4	chr9:96089200-96099400	Weak transcription	Fetal Brain Female	brain
5	chr9:96094000-96099800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr9:96094400-96099000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:96095000-96100000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr9:96095200-96099800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr9:96096400-96098800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr9:96096400-96099000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:96096400-96099000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr9:96096400-96099000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr9:96097200-96100200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:96097800-96098800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr9:96097800-96099000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr9:96098600-96108000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr9:96098800-96099200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr9:96098800-96099400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr9:96098800-96105000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr9:96099000-96099200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:96099000-96099400	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr9:96099000-96099400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
23	chr9:96099000-96099400	Enhancers	Fetal Heart	heart
24	chr9:96099000-96099400	Enhancers	Psoas Muscle	Psoas
25	chr9:96099000-96102800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr9:96099000-96103400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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