Variant report

Variant	esv2495011
Chromosome Location	chr7:153070590-153072194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565409181	chr7:153070596-153070597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532400641	chr7:153070605-153070606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75317362	chr7:153070655-153070656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115814574	chr7:153070715-153070716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144281895	chr7:153070719-153070720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536552115	chr7:153070770-153070771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548346103	chr7:153070785-153070786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185011984	chr7:153070911-153070912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537274290	chr7:153070954-153070955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555837932	chr7:153070986-153070987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571730482	chr7:153071040-153071041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61660495	chr7:153071106-153071107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11761744	chr7:153071114-153071115	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs188599536	chr7:153071155-153071156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538213371	chr7:153071186-153071187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553731109	chr7:153071206-153071207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547792920	chr7:153071311-153071312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572215772	chr7:153071316-153071317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35157741	chr7:153071322-153071323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181090429	chr7:153071334-153071335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113781571	chr7:153071336-153071337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148746105	chr7:153071356-153071357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565226857	chr7:153071395-153071396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185874818	chr7:153071412-153071413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34232929	chr7:153071418-153071419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10952410	chr7:153071472-153071473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs10952411	chr7:153071478-153071479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs559718795	chr7:153071479-153071480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370988109	chr7:153071492-153071493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530295841	chr7:153071528-153071529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190337725	chr7:153071586-153071587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570061167	chr7:153071598-153071599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530998411	chr7:153071604-153071605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552746909	chr7:153071683-153071684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374467420	chr7:153071688-153071689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571206784	chr7:153071698-153071699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538746718	chr7:153071712-153071713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542647329	chr7:153071747-153071748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553453144	chr7:153071754-153071755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142248190	chr7:153071878-153071879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs151253511	chr7:153071971-153071972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576986144	chr7:153072034-153072035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182559242	chr7:153072148-153072149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368707499	chr7:153072149-153072150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Wilms tumour	21544195	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:153067600-153082400	Weak transcription	K562	blood
2	chr7:153071000-153071200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:153071800-153072000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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