Variant report

Variant	esv2500380
Chromosome Location	chr7:124268490-124270109
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540943610	chr7:124268505-124268506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183605158	chr7:124268518-124268519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73221428	chr7:124268550-124268551	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs544959869	chr7:124268633-124268634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561574978	chr7:124268636-124268637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79129819	chr7:124268659-124268660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540292666	chr7:124268661-124268662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544859509	chr7:124268683-124268684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370591554	chr7:124268694-124268695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201386547	chr7:124268708-124268709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200118541	chr7:124268709-124268710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6962917	chr7:124268711-124268712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79676348	chr7:124268723-124268724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201781013	chr7:124268725-124268726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6943004	chr7:124268730-124268731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200789495	chr7:124268731-124268732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200854385	chr7:124268732-124268733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552620024	chr7:124268747-124268748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147848656	chr7:124268760-124268761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531394008	chr7:124268761-124268762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141466343	chr7:124268763-124268764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568035366	chr7:124268766-124268767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534058439	chr7:124268776-124268777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547110824	chr7:124268780-124268781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149927535	chr7:124268790-124268791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539203600	chr7:124268791-124268792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144983906	chr7:124268793-124268794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576162834	chr7:124268805-124268806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538440799	chr7:124268809-124268810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188155955	chr7:124268820-124268821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527655467	chr7:124268821-124268822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181741471	chr7:124268823-124268824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4538811	chr7:124268839-124268840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370860758	chr7:124268840-124268841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201426842	chr7:124268841-124268842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189877459	chr7:124268844-124268845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577166916	chr7:124268852-124268853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71733472	chr7:124268858-124268859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181721362	chr7:124268859-124268860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562651992	chr7:124268863-124268864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143686530	chr7:124268877-124268878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62481522	chr7:124268878-124268879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561528852	chr7:124268889-124268890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554663700	chr7:124268891-124268892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527617949	chr7:124268893-124268894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368381680	chr7:124268896-124268897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547666094	chr7:124268905-124268906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141208479	chr7:124268915-124268916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368324215	chr7:124268916-124268917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549747640	chr7:124268927-124268928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124267800-124268600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:124268600-124270000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:124270000-124271400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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