Variant report

Variant	nsv415836
Chromosome Location	chr9:95957320-95957981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:95957079..95960371-chr9:95962427..95964398,3	K562	blood:
2	chr9:95951384..95953897-chr9:95957626..95959182,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79961979	chr9:95957320-95957321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs62571689	chr9:95957322-95957323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148552008	chr9:95957425-95957426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114177207	chr9:95957445-95957446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528041315	chr9:95957503-95957504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546598321	chr9:95957508-95957509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77998248	chr9:95957523-95957524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143074555	chr9:95957621-95957622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146140569	chr9:95957670-95957671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192532677	chr9:95957706-95957707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140027238	chr9:95957707-95957708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143641650	chr9:95957709-95957710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535916795	chr9:95957725-95957726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151246347	chr9:95957795-95957796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12337042	chr9:95957812-95957813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12337043	chr9:95957814-95957815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533916855	chr9:95957849-95957850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564471910	chr9:95957853-95957854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372873148	chr9:95957854-95957855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531926733	chr9:95957891-95957892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111527161	chr9:95957916-95957917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7043649	chr9:95957937-95957938	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs150003980	chr9:95957963-95957964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144399103	chr9:95957979-95957980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95948200-95958400	Weak transcription	Lung	lung
2	chr9:95950000-95960800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:95950800-95967400	Enhancers	Fetal Heart	heart
4	chr9:95953400-95957600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr9:95954400-95957400	Enhancers	Fetal Brain Male	brain
6	chr9:95954600-95961600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr9:95954800-95957400	Enhancers	Fetal Brain Female	brain
8	chr9:95954800-95959600	Enhancers	Duodenum Mucosa	Duodenum
9	chr9:95955000-95957400	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr9:95955400-95957400	Enhancers	Fetal Lung	lung
11	chr9:95955400-95959000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr9:95955600-95957400	Enhancers	Stomach Smooth Muscle	stomach
13	chr9:95955600-95958200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr9:95955600-95961600	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr9:95955800-95959000	Weak transcription	Right Atrium	heart
16	chr9:95955800-95960200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:95955800-95985600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr9:95956000-95958200	Weak transcription	Left Ventricle	heart
19	chr9:95956000-95959000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr9:95956000-95959000	Weak transcription	Colonic Mucosa	Colon
21	chr9:95956000-95960000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr9:95956000-95960200	Weak transcription	Gastric	stomach
23	chr9:95956000-95960400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr9:95956000-95960400	Weak transcription	Psoas Muscle	Psoas
25	chr9:95956200-95957400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:95956400-95958200	Weak transcription	Fetal Intestine Small	intestine
27	chr9:95956400-95958200	Weak transcription	Pancreas	Pancrea
28	chr9:95956600-95958200	Weak transcription	Fetal Intestine Large	intestine
29	chr9:95956600-95958400	Enhancers	HepG2	liver
30	chr9:95956600-95962600	Weak transcription	Brain Angular Gyrus	brain
31	chr9:95956800-95958200	Weak transcription	Right Ventricle	heart
32	chr9:95956800-95958200	Weak transcription	Small Intestine	intestine
33	chr9:95956800-95965000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr9:95957000-95958200	Weak transcription	Brain Anterior Caudate	brain
35	chr9:95957000-95960200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr9:95957000-95960200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr9:95957000-95963800	Weak transcription	Fetal Kidney	kidney
38	chr9:95957000-95973400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr9:95957200-95958200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr9:95957200-95958800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr9:95957200-95958800	Weak transcription	Colon Smooth Muscle	Colon
42	chr9:95957200-95959000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr9:95957200-95959200	Weak transcription	Brain Germinal Matrix	brain
44	chr9:95957200-95959400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr9:95957200-95963200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr9:95957200-95963400	Weak transcription	Stomach Mucosa	stomach
47	chr9:95957400-95958600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr9:95957400-95958800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr9:95957400-95962200	Weak transcription	Fetal Brain Male	brain
50	chr9:95957400-95962200	Weak transcription	Fetal Brain Female	brain

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