Variant report

Variant	esv1800524
Chromosome Location	chr7:125281369-125288126
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	chr7:125204110..125205826-chr7:125284105..125286281,2	K562	blood:
2	chr7:125280203..125282931-chr7:125290069..125292178,2	K562	blood:

Extended variants
information (count: 128 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191986142	chr7:125285202-125285203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76995761	chr7:125285206-125285207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561930780	chr7:125285273-125285274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529204813	chr7:125285345-125285346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544575295	chr7:125285357-125285358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145246074	chr7:125285435-125285436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183039466	chr7:125285463-125285464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533409994	chr7:125285465-125285466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551559248	chr7:125285482-125285483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566986600	chr7:125285491-125285492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527845278	chr7:125285495-125285496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147267644	chr7:125285496-125285497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568749875	chr7:125285497-125285498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536201440	chr7:125285500-125285501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557581118	chr7:125285504-125285505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575920435	chr7:125285520-125285521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10682304	chr7:125285527-125285528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549185498	chr7:125285542-125285543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567706575	chr7:125285548-125285549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567576128	chr7:125285586-125285587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538160574	chr7:125285590-125285591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549445447	chr7:125285597-125285598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556483054	chr7:125285606-125285607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12539241	chr7:125285649-125285650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs12531592	chr7:125285652-125285653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs79478280	chr7:125285748-125285749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140829007	chr7:125285798-125285799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540401922	chr7:125285801-125285802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555608439	chr7:125285836-125285837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74434817	chr7:125285850-125285851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544515721	chr7:125285908-125285909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374948924	chr7:125285916-125285917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562796856	chr7:125285946-125285947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187056588	chr7:125285948-125285949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368045117	chr7:125285949-125285950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73722041	chr7:125285956-125285957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs560354201	chr7:125285978-125285979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527790519	chr7:125285992-125285993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549126423	chr7:125286013-125286014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117784905	chr7:125286051-125286052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539911511	chr7:125286078-125286079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191842909	chr7:125286150-125286151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62479897	chr7:125286154-125286155	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs184416084	chr7:125286197-125286198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189296280	chr7:125286236-125286237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150438159	chr7:125286257-125286258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145235416	chr7:125286263-125286264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533862478	chr7:125286267-125286268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141240542	chr7:125286301-125286302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573857622	chr7:125286308-125286309	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
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
Autism	20858243	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125285200-125288200	Weak transcription	Pancreas	Pancrea

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