Variant report

Variant	esv2761548
Chromosome Location	chr9:104742371-104757385
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:104752145..104755127-chr9:104756633..104759561,2	MCF-7	breast:
2	chr9:104752145..104755127-chr9:104756633..104759561,2	MCF-7	breast:
3	chr9:104733654..104735932-chr9:104741852..104744249,2	K562	blood:

Extended variants
information (count: 128 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16921073	chr9:104742371-104742372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs146671004	chr9:104742402-104742403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550374441	chr9:104742518-104742519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184915957	chr9:104742544-104742545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533059129	chr9:104742574-104742575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546536300	chr9:104742575-104742576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114089652	chr9:104742576-104742577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188153575	chr9:104742634-104742635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528525753	chr9:104742650-104742651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370722246	chr9:104742688-104742689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568606300	chr9:104742689-104742690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191513655	chr9:104742716-104742717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12338709	chr9:104742729-104742730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565282908	chr9:104742805-104742806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12338756	chr9:104742829-104742830	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs184733448	chr9:104742834-104742835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189500849	chr9:104742880-104742881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553435022	chr9:104742881-104742882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573460775	chr9:104742889-104742890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113375626	chr9:104742965-104742966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1342124	chr9:104742968-104742969	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs182049221	chr9:104743007-104743008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148419031	chr9:104743020-104743021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556205520	chr9:104743038-104743039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186950489	chr9:104743090-104743091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563946681	chr9:104743141-104743142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142565539	chr9:104743176-104743177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540421581	chr9:104743189-104743190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541775612	chr9:104743206-104743207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368493864	chr9:104743250-104743251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560219323	chr9:104743348-104743349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560275383	chr9:104743356-104743357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113152214	chr9:104743366-104743367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529175624	chr9:104743369-104743370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190092350	chr9:104743450-104743451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181232287	chr9:104743465-104743466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531030334	chr9:104743525-104743526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77106204	chr9:104743535-104743536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370945500	chr9:104743548-104743549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150983265	chr9:104743558-104743559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539671835	chr9:104743619-104743620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553515266	chr9:104743634-104743635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376139307	chr9:104743656-104743657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79286963	chr9:104743663-104743664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536115995	chr9:104743749-104743750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7871756	chr9:104743780-104743781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7860760	chr9:104743787-104743788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554944175	chr9:104743807-104743808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186395573	chr9:104743821-104743822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7870935	chr9:104743834-104743835	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104740600-104742800	Weak transcription	Fetal Heart	heart
2	chr9:104742800-104744200	Enhancers	Fetal Heart	heart
3	chr9:104743000-104743800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr9:104756000-104758200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:104756400-104758200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:104756400-104758200	Enhancers	NH-A	brain
7	chr9:104757200-104757600	Enhancers	Muscle Satellite Cultured Cells	--

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