Variant report

Variant	esv1837372
Chromosome Location	chr9:101309058-101313371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:101297663..101300259-chr9:101312178..101315523,3	MCF-7	breast:
2	chr9:101313147..101314853-chr9:101446937..101449701,2	MCF-7	breast:
3	chr9:101305246..101310158-chr9:101310437..101314302,6	K562	blood:
4	chr9:101305246..101310158-chr9:101310437..101314302,6	K562	blood:
5	chr9:101306147..101307705-chr9:101312310..101313945,2	K562	blood:
6	chr9:101304068..101307864-chr9:101310405..101312317,3	MCF-7	breast:

Extended variants
information (count: 143 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150674013	chr9:101309062-101309063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139878167	chr9:101309067-101309068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115627983	chr9:101309093-101309094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73655490	chr9:101309102-101309103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs533786027	chr9:101309119-101309120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553463666	chr9:101309125-101309126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149809181	chr9:101309163-101309164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542394622	chr9:101309175-101309176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541527331	chr9:101309197-101309198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529111358	chr9:101309257-101309258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192523594	chr9:101309268-101309269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182661705	chr9:101309277-101309278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146320054	chr9:101309342-101309343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562817606	chr9:101309350-101309351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545181654	chr9:101309368-101309369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565179205	chr9:101309380-101309381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567256306	chr9:101309533-101309534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187668255	chr9:101309541-101309542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192869928	chr9:101309544-101309545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374328352	chr9:101309626-101309627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561159244	chr9:101309643-101309644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4578071	chr9:101309660-101309661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs549907193	chr9:101309666-101309667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539232123	chr9:101309704-101309705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34023398	chr9:101309720-101309721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551124513	chr9:101309861-101309862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569807695	chr9:101309869-101309870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184907217	chr9:101309881-101309882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139516513	chr9:101309951-101309952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566053802	chr9:101310070-101310071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144186143	chr9:101310151-101310152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555230273	chr9:101310170-101310171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567180820	chr9:101310181-101310182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146760360	chr9:101310251-101310252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57488751	chr9:101310252-101310253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs374218002	chr9:101310305-101310306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138185713	chr9:101310435-101310436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76062524	chr9:101310554-101310555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74688427	chr9:101310648-101310649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564602618	chr9:101310657-101310658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150995070	chr9:101310674-101310675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538086593	chr9:101310824-101310825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561231325	chr9:101310918-101310919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530079529	chr9:101310973-101310974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543372943	chr9:101310974-101310975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140809365	chr9:101311180-101311181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112860481	chr9:101311210-101311211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552372032	chr9:101311226-101311227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566180088	chr9:101311256-101311257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189030987	chr9:101311310-101311311	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101304400-101311800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr9:101308200-101311800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:101311800-101312000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:101311800-101312000	Enhancers	HSMM	muscle
5	chr9:101311800-101312200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr9:101311800-101315400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:101311800-101316600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr9:101312000-101314000	Enhancers	NH-A	brain
9	chr9:101312200-101312400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr9:101312200-101313000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr9:101312200-101313800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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