Variant report

Variant	esv3483154
Chromosome Location	chr9:97462532-97465506
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97459537..97462925-chr9:97464708..97468853,4	MCF-7	breast:
2	chr9:97444988..97448492-chr9:97460708..97463598,3	MCF-7	breast:
3	chr9:97459537..97462925-chr9:97464708..97468853,4	MCF-7	breast:
4	chr9:97461434..97463640-chr9:97466023..97468786,2	K562	blood:
5	chr9:97461323..97463408-chr9:97466461..97468614,2	MCF-7	breast:

Extended variants
information (count: 98 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149794484	chr9:97462576-97462577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189413561	chr9:97462598-97462599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553474351	chr9:97462607-97462608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568546809	chr9:97462669-97462670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201687762	chr9:97462705-97462706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536925342	chr9:97462725-97462726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559218880	chr9:97462751-97462752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557612025	chr9:97462760-97462761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575971739	chr9:97462767-97462768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565225802	chr9:97462861-97462862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150443661	chr9:97462862-97462863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7874823	chr9:97462904-97462905	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs557738327	chr9:97462993-97462994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573566404	chr9:97463015-97463016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540758324	chr9:97463117-97463118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572840991	chr9:97463139-97463140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572515654	chr9:97463168-97463169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181733761	chr9:97463198-97463199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7859242	chr9:97463219-97463220	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs145743662	chr9:97463229-97463230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58782985	chr9:97463297-97463298	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs562353205	chr9:97463336-97463337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs386415526	chr9:97463343-97463344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56983011	chr9:97463357-97463358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533013331	chr9:97463426-97463427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551309839	chr9:97463432-97463433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12554486	chr9:97463435-97463436	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs528522752	chr9:97463451-97463452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546759290	chr9:97463505-97463506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568516879	chr9:97463606-97463607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535590687	chr9:97463625-97463626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185904160	chr9:97463652-97463653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569474422	chr9:97463656-97463657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540132009	chr9:97463732-97463733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558528123	chr9:97463757-97463758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7033300	chr9:97463781-97463782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs544814932	chr9:97463782-97463783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10120534	chr9:97463801-97463802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs199783658	chr9:97463809-97463810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555090433	chr9:97463846-97463847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10121232	chr9:97463917-97463918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs200770994	chr9:97463931-97463932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71496979	chr9:97463932-97463933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71366257	chr9:97463933-97463934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77817705	chr9:97463960-97463961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62580291	chr9:97463962-97463963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190463714	chr9:97464019-97464020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562341260	chr9:97464058-97464059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577457455	chr9:97464059-97464060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541600948	chr9:97464069-97464070	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
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
Effusion lymphoma	18079361	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97456200-97463200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:97457400-97465800	Weak transcription	Fetal Stomach	stomach
3	chr9:97460800-97465400	Weak transcription	Fetal Intestine Small	intestine
4	chr9:97461000-97465400	Weak transcription	Fetal Intestine Large	intestine
5	chr9:97461000-97465800	Weak transcription	Fetal Lung	lung
6	chr9:97461200-97462600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:97461200-97465400	Weak transcription	HepG2	liver
8	chr9:97461200-97465800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr9:97461600-97463600	Enhancers	Placenta	Placenta
10	chr9:97462000-97462600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:97462200-97462600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:97462200-97462600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:97462600-97462800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:97463200-97463400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr9:97463600-97467200	Weak transcription	Placenta	Placenta
16	chr9:97465400-97465800	Enhancers	HepG2	liver
17	chr9:97465400-97466600	Enhancers	Fetal Intestine Large	intestine
18	chr9:97465400-97466600	Enhancers	Fetal Intestine Small	intestine

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