Variant report

Variant	esv15948
Chromosome Location	chr7:153478745-153498963
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556874584	chr7:153486425-153486426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs193197256	chr7:153486448-153486449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372911163	chr7:153486467-153486468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374205479	chr7:153486473-153486474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565931399	chr7:153486524-153486525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184576875	chr7:153486532-153486533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377497522	chr7:153486535-153486536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555399646	chr7:153486538-153486539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188897625	chr7:153486579-153486580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200395135	chr7:153486592-153486593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370756733	chr7:153486615-153486616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2622168	chr7:153486641-153486642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555871694	chr7:153486669-153486670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577909712	chr7:153486677-153486678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2622167	chr7:153486704-153486705	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs554015741	chr7:153486720-153486721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572233025	chr7:153486744-153486745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543161101	chr7:153486756-153486757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs59640374	chr7:153486776-153486777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575737250	chr7:153486803-153486804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561403930	chr7:153486848-153486849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543123643	chr7:153486874-153486875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531687826	chr7:153486891-153486892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117436189	chr7:153486897-153486898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs71278486	chr7:153486904-153486905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2622166	chr7:153486905-153486906	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs532714180	chr7:153486975-153486976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547637163	chr7:153486976-153486977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376544926	chr7:153486989-153486990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530197066	chr7:153486999-153487000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531813909	chr7:153497201-153497202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551429084	chr7:153497204-153497205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs71545622	chr7:153497217-153497218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111848796	chr7:153497220-153497221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71545623	chr7:153497225-153497226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568648987	chr7:153497258-153497259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs71545624	chr7:153497266-153497267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548056047	chr7:153497302-153497303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71545625	chr7:153497321-153497322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs71545626	chr7:153497334-153497335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2622105	chr7:153497337-153497338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533807543	chr7:153497372-153497373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552963736	chr7:153497385-153497386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566306373	chr7:153497401-153497402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534112300	chr7:153497423-153497424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183655384	chr7:153497455-153497456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186475920	chr7:153497467-153497468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538073551	chr7:153497477-153497478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191782813	chr7:153497492-153497493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556389673	chr7:153497523-153497524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Breast cancer	21509527	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Autism	22102821	CNVD
Attention deficit hyperactivity disorder	22138692	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:153486400-153487000	Enhancers	Colon Smooth Muscle	Colon
2	chr7:153497200-153497400	Enhancers	Colon Smooth Muscle	Colon
3	chr7:153497400-153505200	Weak transcription	Colon Smooth Muscle	Colon

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