Variant report

Variant	esv2647838
Chromosome Location	chr7:64412927-64414421
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113457793	chr7:64413015-64413016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548212737	chr7:64413078-64413079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545283552	chr7:64413088-64413089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142344158	chr7:64413137-64413138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149384408	chr7:64413182-64413183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561620703	chr7:64413198-64413199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553794019	chr7:64413206-64413207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372727246	chr7:64413214-64413215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9718984	chr7:64413220-64413221	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs539660874	chr7:64413230-64413231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574987280	chr7:64413251-64413252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146808469	chr7:64413263-64413264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370861899	chr7:64413279-64413280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141027503	chr7:64413284-64413285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563686583	chr7:64413331-64413332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200195468	chr7:64413373-64413374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs202097649	chr7:64413377-64413378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375716176	chr7:64413378-64413379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368580227	chr7:64413379-64413380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112124735	chr7:64413496-64413497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553942872	chr7:64413520-64413521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180821457	chr7:64413532-64413533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149708788	chr7:64413590-64413591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572549018	chr7:64413592-64413593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535093081	chr7:64413605-64413606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558296846	chr7:64413615-64413616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577069290	chr7:64413683-64413684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566806576	chr7:64413800-64413801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534325406	chr7:64413824-64413825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552522035	chr7:64413840-64413841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28411715	chr7:64413871-64413872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs570469967	chr7:64413885-64413886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145628138	chr7:64413902-64413903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541448150	chr7:64413907-64413908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75121080	chr7:64413912-64413913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58193114	chr7:64413933-64413934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs148915261	chr7:64413935-64413936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375656631	chr7:64413952-64413953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143598164	chr7:64413972-64413973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs137942841	chr7:64413997-64413998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550398397	chr7:64414004-64414005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58376065	chr7:64414037-64414038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs75583720	chr7:64414126-64414127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375309417	chr7:64414148-64414149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549432797	chr7:64414212-64414213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566044499	chr7:64414252-64414253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535023131	chr7:64414280-64414281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187426658	chr7:64414300-64414301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189141771	chr7:64414317-64414318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539245589	chr7:64414365-64414366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Glioblastoma	21080181	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Williams Syndrome	20824207	CNVD
Cognitive impairment	21505072	CNVD
Schizophrenia	20967226	CNVD
Cancer	21272361	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64411400-64419000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:64412800-64413000	Enhancers	Adipose Nuclei	Adipose
3	chr7:64412800-64413200	Enhancers	HepG2	liver
4	chr7:64412800-64413400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:64413000-64419800	Weak transcription	Adipose Nuclei	Adipose

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