Variant report

Variant	nsv819652
Chromosome Location	chr9:96468629-96471364
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96454609..96456562-chr9:96470228..96472178,2	MCF-7	breast:
2	chr9:96470412..96472293-chr9:96481826..96483648,2	K562	blood:
3	chr9:96452612..96455375-chr9:96466026..96468839,2	MCF-7	breast:
4	chr9:96463023..96465693-chr9:96468979..96471782,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566143132	chr9:96468634-96468635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190894599	chr9:96468682-96468683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555637511	chr9:96468740-96468741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567647437	chr9:96468761-96468762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538040656	chr9:96468787-96468788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370194747	chr9:96468904-96468905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555111077	chr9:96468928-96468929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556737898	chr9:96469014-96469015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577999097	chr9:96469048-96469049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141435185	chr9:96469064-96469065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4744272	chr9:96469075-96469076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs572465940	chr9:96469105-96469106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182487102	chr9:96469123-96469124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561945969	chr9:96469134-96469135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368493155	chr9:96469144-96469145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111234613	chr9:96469153-96469154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567625207	chr9:96469197-96469198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189246350	chr9:96469239-96469240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562708517	chr9:96469259-96469260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532850306	chr9:96469263-96469264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193085948	chr9:96469265-96469266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566278238	chr9:96469280-96469281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527273111	chr9:96469282-96469283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537947177	chr9:96469327-96469328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184572306	chr9:96469343-96469344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567586569	chr9:96469380-96469381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559477236	chr9:96469429-96469430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533177463	chr9:96469456-96469457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187371786	chr9:96469470-96469471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150819495	chr9:96469476-96469477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538906991	chr9:96469497-96469498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374305916	chr9:96469522-96469523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554285471	chr9:96469560-96469561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114370835	chr9:96469567-96469568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75482235	chr9:96469570-96469571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138434378	chr9:96469630-96469631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143907143	chr9:96469666-96469667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530677181	chr9:96469686-96469687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575231962	chr9:96469752-96469753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533151775	chr9:96469776-96469777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549249612	chr9:96469794-96469795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544905478	chr9:96469828-96469829	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs191861716	chr9:96469909-96469910	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs147406805	chr9:96469994-96469995	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs548522215	chr9:96469998-96469999	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs10821205	chr9:96470018-96470019	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531246673	chr9:96470039-96470040	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs550443477	chr9:96470073-96470074	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs10992873	chr9:96470097-96470098	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs539206729	chr9:96470126-96470127	ZNF genes & repeats Active TSS	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96464000-96469800	Weak transcription	Right Atrium	heart
2	chr9:96469600-96470000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:96469800-96470400	ZNF genes & repeats	Right Atrium	heart
4	chr9:96469800-96470600	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr9:96470400-96470800	Enhancers	Fetal Muscle Leg	muscle
6	chr9:96470400-96471000	Weak transcription	Right Atrium	heart
7	chr9:96470600-96471000	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr9:96470600-96471400	Enhancers	Fetal Stomach	stomach
9	chr9:96470600-96471400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr9:96470600-96473000	Enhancers	Stomach Smooth Muscle	stomach
11	chr9:96470800-96471000	Flanking Active TSS	Fetal Muscle Leg	muscle
12	chr9:96470800-96471400	Enhancers	Psoas Muscle	Psoas
13	chr9:96471000-96471400	Enhancers	Right Atrium	heart
14	chr9:96471000-96471400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr9:96471000-96471800	Enhancers	Fetal Muscle Leg	muscle

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