Variant report

Variant	esv1817741
Chromosome Location	chr9:104884259-104917244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 251 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10617485	chr9:104886414-104886415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368968503	chr9:104886417-104886418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10989848	chr9:104886439-104886440	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs7020114	chr9:104886465-104886466	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531526609	chr9:104886470-104886471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551281317	chr9:104886488-104886489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371971290	chr9:104886523-104886524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150405205	chr9:104886534-104886535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546630289	chr9:104886589-104886590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34770017	chr9:104886632-104886633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149510647	chr9:104886636-104886637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375468498	chr9:104886639-104886640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184390154	chr9:104886683-104886684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138207297	chr9:104886691-104886692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149600614	chr9:104886693-104886694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569451949	chr9:104886746-104886747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557709169	chr9:104886761-104886762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538414140	chr9:104886762-104886763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201097626	chr9:104886763-104886764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189148449	chr9:104886798-104886799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114895728	chr9:104886817-104886818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147292745	chr9:104886852-104886853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555355485	chr9:104886874-104886875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs320176	chr9:104886881-104886882	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs10989849	chr9:104886891-104886892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542333468	chr9:104886924-104886925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529678669	chr9:104886932-104886933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562213573	chr9:104886936-104886937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575845897	chr9:104886947-104886948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540716051	chr9:104886960-104886961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs80319991	chr9:104886968-104886969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564838022	chr9:104886971-104886972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373273168	chr9:104886973-104886974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541825439	chr9:104886989-104886990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs59786573	chr9:104886994-104886995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369640083	chr9:104886998-104886999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370089752	chr9:104887023-104887024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143226702	chr9:104887047-104887048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35253364	chr9:104887058-104887059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185733211	chr9:104887068-104887069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549233030	chr9:104887134-104887135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1017595	chr9:104887157-104887158	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs190002080	chr9:104887199-104887200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373582786	chr9:104887224-104887225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572020398	chr9:104887265-104887266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs180843380	chr9:104887276-104887277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553755671	chr9:104887326-104887327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs118163455	chr9:104887363-104887364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536208510	chr9:104887374-104887375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555848284	chr9:104887382-104887383	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104886400-104886800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr9:104886600-104887400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:104893200-104893800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:104897000-104897600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:104897600-104898400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr9:104897800-104899000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr9:104898000-104898400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:104904600-104905000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr9:104915600-104916000	Active TSS	iPS-15b Cell Line	embryonic stem cell

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