Variant report

Variant	esv3355579
Chromosome Location	chr9:103999631-104001229
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:104000351..104000934-chr9:104012101..104012914,2	MCF-7	breast:

Extended variants
information (count: 89 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112994178	chr9:103999650-103999651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188506447	chr9:103999672-103999673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560832080	chr9:103999737-103999738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs57041590	chr9:103999738-103999739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140130903	chr9:103999745-103999746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568814555	chr9:103999755-103999756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs80342270	chr9:103999756-103999757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530437510	chr9:103999797-103999798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181047922	chr9:103999818-103999819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570236847	chr9:103999846-103999847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13295287	chr9:103999853-103999854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs552490538	chr9:103999861-103999862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368055003	chr9:103999912-103999913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566166308	chr9:103999923-103999924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571146778	chr9:103999924-103999925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144819109	chr9:103999925-103999926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370564358	chr9:103999926-103999927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13301503	chr9:103999959-103999960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13296744	chr9:103999961-103999962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554568204	chr9:103999972-103999973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149010323	chr9:103999986-103999987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185286146	chr9:104000000-104000001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200269534	chr9:104000018-104000019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547159968	chr9:104000019-104000020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556462133	chr9:104000032-104000033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576254784	chr9:104000095-104000096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370193024	chr9:104000118-104000119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370719191	chr9:104000119-104000120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373348842	chr9:104000120-104000121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375677813	chr9:104000121-104000122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369607425	chr9:104000122-104000123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201614576	chr9:104000127-104000128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13301811	chr9:104000137-104000138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545192937	chr9:104000138-104000139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558428436	chr9:104000149-104000150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200442406	chr9:104000157-104000158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189871223	chr9:104000165-104000166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34987720	chr9:104000208-104000209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374037934	chr9:104000209-104000210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182442976	chr9:104000220-104000221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201108050	chr9:104000223-104000224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560942675	chr9:104000238-104000239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529750035	chr9:104000250-104000251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550647877	chr9:104000262-104000263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374644116	chr9:104000321-104000322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559336914	chr9:104000323-104000324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546250066	chr9:104000325-104000326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543430481	chr9:104000345-104000346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201119127	chr9:104000348-104000349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187141217	chr9:104000370-104000371	Weak transcription	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
Bipolar disorder	19114987	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103997800-104000800	Weak transcription	Brain Anterior Caudate	brain
2	chr9:103998000-104016800	Weak transcription	HepG2	liver
3	chr9:103998200-104000800	Weak transcription	Brain Substantia Nigra	brain
4	chr9:103998200-104006000	Weak transcription	Brain Angular Gyrus	brain
5	chr9:103998800-103999800	Enhancers	Brain Hippocampus Middle	brain
6	chr9:103998800-104004400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr9:103999400-103999800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr9:103999800-104001000	Weak transcription	Brain Hippocampus Middle	brain
9	chr9:104000800-104001200	Enhancers	Brain Anterior Caudate	brain
10	chr9:104000800-104001400	Enhancers	Brain Substantia Nigra	brain
11	chr9:104001000-104001600	Enhancers	Brain Hippocampus Middle	brain
12	chr9:104001200-104004400	Weak transcription	Brain Anterior Caudate	brain

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