Variant report

Variant	esv2761126
Chromosome Location	chr7:39191290-39199053
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:39195274..39197700-chr7:39206282..39208251,3	K562	blood:
2	chr7:39191469..39193442-chr7:39196110..39198005,2	K562	blood:
3	chr7:39191469..39193442-chr7:39196110..39198005,2	K562	blood:
4	chr7:39198600..39200599-chr7:39202951..39205373,2	K562	blood:
5	chr7:39196101..39198199-chr7:39208525..39210124,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562416557	chr7:39191803-39191804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527664385	chr7:39191892-39191893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547847989	chr7:39191917-39191918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374835138	chr7:39191922-39191923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564522046	chr7:39191932-39191933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111478194	chr7:39192000-39192001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9639812	chr7:39192058-39192059	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs569711200	chr7:39192098-39192099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535306556	chr7:39192114-39192115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539884863	chr7:39192132-39192133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181432770	chr7:39192262-39192263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534301468	chr7:39192267-39192268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140711203	chr7:39192277-39192278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577571956	chr7:39192280-39192281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371310717	chr7:39192295-39192296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557061959	chr7:39192323-39192324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576560262	chr7:39192335-39192336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542470873	chr7:39192390-39192391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562353839	chr7:39192403-39192404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572744075	chr7:39192493-39192494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561333682	chr7:39192505-39192506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528984162	chr7:39192533-39192534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564275780	chr7:39192547-39192548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550225278	chr7:39192559-39192560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77941234	chr7:39192583-39192584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75509716	chr7:39192608-39192609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150828421	chr7:39192610-39192611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529030427	chr7:39192666-39192667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548798497	chr7:39192705-39192706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565551829	chr7:39192754-39192755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151065351	chr7:39192789-39192790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114880209	chr7:39192969-39192970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139395704	chr7:39192970-39192971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574559012	chr7:39192972-39192973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571148957	chr7:39192977-39192978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150062342	chr7:39192990-39192991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556759537	chr7:39193012-39193013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535186514	chr7:39193019-39193020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145300643	chr7:39193023-39193024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536370441	chr7:39193070-39193071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34771836	chr7:39193083-39193084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555969574	chr7:39193139-39193140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543216944	chr7:39193171-39193172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78459861	chr7:39193175-39193176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567092066	chr7:39193802-39193803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558911679	chr7:39193868-39193869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534491019	chr7:39193885-39193886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147987865	chr7:39193886-39193887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555824610	chr7:39193909-39193910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567635080	chr7:39193926-39193927	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39191800-39192400	Enhancers	Fetal Brain Male	brain
2	chr7:39192400-39193000	Weak transcription	Fetal Brain Male	brain
3	chr7:39193000-39193200	Enhancers	Fetal Brain Male	brain
4	chr7:39193800-39194600	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr7:39194200-39194800	Enhancers	Small Intestine	intestine

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