Variant report

Variant	esv3446905
Chromosome Location	chr9:95437689-95438209
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	chr9:95436301..95439240-chr9:95442495..95445475,2	K562	blood:
2	chr9:95435216..95437864-chr9:95474368..95476596,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182638853	chr9:95437729-95437730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547338416	chr9:95437792-95437793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186352722	chr9:95437794-95437795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530408849	chr9:95437797-95437798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548543742	chr9:95437801-95437802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570207373	chr9:95437802-95437803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374023441	chr9:95437804-95437805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531343424	chr9:95437819-95437820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549866966	chr9:95437820-95437821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191157825	chr9:95437821-95437822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182988312	chr9:95437851-95437852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553762630	chr9:95437856-95437857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566019937	chr9:95437886-95437887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555263776	chr9:95437903-95437904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554502306	chr9:95437904-95437905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576200546	chr9:95437906-95437907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377109747	chr9:95437907-95437908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187657764	chr9:95437908-95437909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558628558	chr9:95437919-95437920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10992397	chr9:95437920-95437921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541065308	chr9:95437946-95437947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559316037	chr9:95437956-95437957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530352546	chr9:95437959-95437960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573905659	chr9:95437965-95437966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534693039	chr9:95437972-95437973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563798328	chr9:95437980-95437981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553374069	chr9:95437982-95437983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10992398	chr9:95437994-95437995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552760248	chr9:95438000-95438001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10992399	chr9:95438010-95438011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs112500721	chr9:95438043-95438044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545521724	chr9:95438048-95438049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563832718	chr9:95438050-95438051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545545690	chr9:95438060-95438061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377334375	chr9:95438063-95438064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535838395	chr9:95438071-95438072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554871126	chr9:95438083-95438084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10992400	chr9:95438100-95438101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs569803121	chr9:95438136-95438137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539886630	chr9:95438164-95438165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112155684	chr9:95438165-95438166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558992822	chr9:95438196-95438197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	22522925	CNVD
overgrowth syndrome	16570072	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95433400-95442800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:95433800-95441800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:95433800-95444000	Weak transcription	Fetal Brain Female	brain
4	chr9:95434000-95439200	Weak transcription	Primary T cells from cord blood	blood
5	chr9:95434000-95439200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr9:95434000-95439200	Weak transcription	Fetal Thymus	thymus
7	chr9:95434000-95439400	Weak transcription	HepG2	liver
8	chr9:95434000-95439800	Weak transcription	Brain Germinal Matrix	brain
9	chr9:95434000-95441800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr9:95434000-95441800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:95434000-95442400	Weak transcription	NHDF-Ad	bronchial
12	chr9:95434200-95438600	Weak transcription	K562	blood
13	chr9:95434200-95438800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr9:95434200-95439400	Weak transcription	Right Atrium	heart
15	chr9:95434200-95441800	Weak transcription	Esophagus	oesophagus
16	chr9:95434200-95441800	Weak transcription	NHEK	skin
17	chr9:95434200-95442800	Weak transcription	Placenta	Placenta
18	chr9:95434400-95439200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:95436800-95439600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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