Variant report

Variant	esv2476007
Chromosome Location	chr9:101347139-101348929
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:101345246..101347632-chr9:101356201..101357934,2	K562	blood:
2	chr9:101326856..101330632-chr9:101345515..101347959,3	MCF-7	breast:
3	chr9:101334595..101337716-chr9:101344699..101348746,4	MCF-7	breast:
4	chr9:101348915..101351128-chr9:101353321..101355170,2	K562	blood:
5	chr9:101340573..101343071-chr9:101347948..101351619,3	MCF-7	breast:
6	chr9:101348020..101348980-chr9:101537926..101538570,2	MCF-7	breast:
7	chr9:101337939..101341594-chr9:101346528..101349148,3	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531507593	chr9:101347145-101347146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191220333	chr9:101347146-101347147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533282728	chr9:101347188-101347189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540386603	chr9:101347202-101347203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73494498	chr9:101347208-101347209	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs12337255	chr9:101347219-101347220	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs544493780	chr9:101347254-101347255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372870973	chr9:101347255-101347256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567457761	chr9:101347266-101347267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183537259	chr9:101347313-101347314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556528867	chr9:101347318-101347319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576534248	chr9:101347333-101347334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545387627	chr9:101347359-101347360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17778857	chr9:101347398-101347399	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs147609547	chr9:101347409-101347410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540264571	chr9:101347457-101347458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188491449	chr9:101347460-101347461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529043607	chr9:101347484-101347485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548580347	chr9:101347537-101347538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193238818	chr9:101347538-101347539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113596453	chr9:101347555-101347556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531496397	chr9:101347610-101347611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183429288	chr9:101347645-101347646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4620400	chr9:101347658-101347659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs112015322	chr9:101347664-101347665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376493536	chr9:101347666-101347667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552754310	chr9:101347690-101347691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536350661	chr9:101347703-101347704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556580670	chr9:101347717-101347718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570171000	chr9:101347732-101347733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539248646	chr9:101347751-101347752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558868900	chr9:101347779-101347780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4556199	chr9:101347787-101347788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541741836	chr9:101347810-101347811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553803539	chr9:101347818-101347819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10115903	chr9:101347826-101347827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542370370	chr9:101347835-101347836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113913961	chr9:101347837-101347838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562572346	chr9:101347855-101347856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186646434	chr9:101347863-101347864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191106810	chr9:101347864-101347865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74187391	chr9:101347879-101347880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138310415	chr9:101347889-101347890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199749139	chr9:101347908-101347909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10115280	chr9:101347931-101347932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554556539	chr9:101347977-101347978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368149116	chr9:101347986-101347987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143355752	chr9:101348072-101348073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550029959	chr9:101348095-101348096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570166428	chr9:101348223-101348224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Esophageal cancer	21851588	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101332800-101355600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr9:101345600-101347400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr9:101346000-101347200	Enhancers	HUVEC	blood vessel
4	chr9:101346200-101347400	Enhancers	Fetal Brain Male	brain
5	chr9:101346200-101347400	Enhancers	K562	blood
6	chr9:101346400-101347200	Enhancers	Fetal Brain Female	brain
7	chr9:101347200-101358800	Weak transcription	Fetal Brain Female	brain
8	chr9:101347400-101351200	Weak transcription	Fetal Brain Male	brain

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