Variant report

Variant	esv3381958
Chromosome Location	chr7:37997777-37999875
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	chr7:37996748..37998396-chr7:38000563..38003487,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368337360	chr7:37997822-37997823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184456766	chr7:37997946-37997947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549440525	chr7:37997976-37997977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145064304	chr7:37997977-37997978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114605417	chr7:37997997-37997998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141130812	chr7:37998013-37998014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144918630	chr7:37998016-37998017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557338040	chr7:37998040-37998041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534887458	chr7:37998069-37998070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554244147	chr7:37998081-37998082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577289881	chr7:37998085-37998086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546366390	chr7:37998093-37998094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116886178	chr7:37998117-37998118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76223911	chr7:37998159-37998160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138651959	chr7:37998176-37998177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1621407	chr7:37998207-37998208	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs78935313	chr7:37998215-37998216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557742928	chr7:37998219-37998220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189349369	chr7:37998246-37998247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375401487	chr7:37998256-37998257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373844488	chr7:37998303-37998304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117203425	chr7:37998341-37998342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572945010	chr7:37998343-37998344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192553443	chr7:37998397-37998398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532760278	chr7:37998416-37998417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549649255	chr7:37998428-37998429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569741129	chr7:37998430-37998431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144432269	chr7:37998450-37998451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1668362	chr7:37998451-37998452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs113825808	chr7:37998478-37998479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200665368	chr7:37998517-37998518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369924733	chr7:37998518-37998519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371481105	chr7:37998519-37998520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562242385	chr7:37998624-37998625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56660306	chr7:37998751-37998752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549180572	chr7:37998819-37998820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565844564	chr7:37998820-37998821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534946285	chr7:37998821-37998822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201818577	chr7:37998822-37998823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12701600	chr7:37998848-37998849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs377205960	chr7:37998937-37998938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539852360	chr7:37998954-37998955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184360207	chr7:37998972-37998973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs202207804	chr7:37998988-37998989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189061297	chr7:37999006-37999007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541926178	chr7:37999037-37999038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181740321	chr7:37999046-37999047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572282014	chr7:37999055-37999056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541369565	chr7:37999135-37999136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1717732	chr7:37999138-37999139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:84)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	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
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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:37989400-37998800	Weak transcription	Thymus	Thymus
2	chr7:37992200-38017600	Weak transcription	Ovary	ovary
3	chr7:37992400-37998200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:37992600-37999200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:37992600-38026800	Weak transcription	Pancreas	Pancrea
6	chr7:37993000-38007600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:37993400-37999600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:37993800-38007400	Weak transcription	A549	lung
9	chr7:37996000-37997800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:37997200-37997800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:37997600-38010600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:37997800-38005000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:37998200-37998400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:37999200-37999400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr7:37999600-38001200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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