Variant report

Variant	esv275033
Chromosome Location	chr9:94371706-94373806
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr9:94371631-94371787	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr9:94373566-94374350	MCF10A-Er-Src	breast:	n/a	n/a
3	SETDB1	chr9:94373709-94374199	U2OS	brain:	n/a	n/a
4	SIN3AK20	chr9:94373801-94374493	MCF-7	breast:	n/a	n/a
5	STAT3	chr9:94373780-94374142	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SYK-12	chr9:94373625-94374774	NONHSAT133139

Variant related genes	Relation type
PAICSP2	TF binding region

Extended variants
information (count: 86 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182404975	chr9:94371715-94371716	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs142768660	chr9:94371716-94371717	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs146080745	chr9:94371761-94371762	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs79223417	chr9:94371821-94371822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187039592	chr9:94371823-94371824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189525675	chr9:94371864-94371865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576721809	chr9:94371892-94371893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547533688	chr9:94371896-94371897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10116525	chr9:94371909-94371910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs556161229	chr9:94371926-94371927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577183758	chr9:94371945-94371946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544726826	chr9:94371948-94371949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559770354	chr9:94371962-94371963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182764150	chr9:94371970-94371971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2131303	chr9:94372047-94372048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs376393917	chr9:94372057-94372058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548338834	chr9:94372067-94372068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531666196	chr9:94372072-94372073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs80282030	chr9:94372098-94372099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7032324	chr9:94372099-94372100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7033289	chr9:94372138-94372139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs370298729	chr9:94372140-94372141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571004376	chr9:94372143-94372144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4744072	chr9:94372150-94372151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10820882	chr9:94372160-94372161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4743842	chr9:94372170-94372171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10618485	chr9:94372179-94372180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10820883	chr9:94372180-94372181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72742895	chr9:94372189-94372190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199670692	chr9:94372196-94372197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201769227	chr9:94372199-94372200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370521394	chr9:94372200-94372201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143118203	chr9:94372207-94372208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4744073	chr9:94372210-94372211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189026206	chr9:94372229-94372230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555174949	chr9:94372250-94372251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570137374	chr9:94372292-94372293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558606102	chr9:94372362-94372363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537767999	chr9:94372395-94372396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558957517	chr9:94372454-94372455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7032779	chr9:94372455-94372456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs377581385	chr9:94372491-94372492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529341765	chr9:94372511-94372512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544565383	chr9:94372524-94372525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4744074	chr9:94372548-94372549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs193137660	chr9:94372640-94372641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553492590	chr9:94372682-94372683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557829338	chr9:94372691-94372692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56758637	chr9:94372693-94372694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150557375	chr9:94372712-94372713	Weak transcription	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94368800-94374000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:94373200-94374400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:94373200-94374600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:94373600-94374000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:94373600-94374400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:94373600-94374600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:94373800-94374400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr9:94373800-94374400	Enhancers	NH-A	brain

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