Variant report

Variant	esv3349996
Chromosome Location	chr7:137954312-137957510
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	chr7:137956498..137958305-chr7:137960190..137962007,2	K562	blood:
2	chr7:137947555..137949067-chr7:137952751..137956382,3	K562	blood:

Extended variants
information (count: 140 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546644798	chr7:137954404-137954405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144325053	chr7:137954416-137954417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6963140	chr7:137954419-137954420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs193089053	chr7:137954447-137954448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538524350	chr7:137954465-137954466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146575975	chr7:137954469-137954470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546858265	chr7:137954506-137954507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs56183485	chr7:137954513-137954514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs184718542	chr7:137954514-137954515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555720145	chr7:137954525-137954526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188994988	chr7:137954536-137954537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537855852	chr7:137954537-137954538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181379867	chr7:137954540-137954541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35393612	chr7:137954554-137954555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs398111936	chr7:137954555-137954556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539179843	chr7:137954564-137954565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577712293	chr7:137954595-137954596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113349038	chr7:137954603-137954604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553180703	chr7:137954611-137954612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573125461	chr7:137954635-137954636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541986189	chr7:137954654-137954655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562055583	chr7:137954679-137954680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576011678	chr7:137954686-137954687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148728779	chr7:137954700-137954701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34981371	chr7:137954711-137954712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184226817	chr7:137954730-137954731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78603440	chr7:137954739-137954740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533500916	chr7:137954749-137954750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142278594	chr7:137954753-137954754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566942042	chr7:137954759-137954760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529115502	chr7:137954763-137954764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114623611	chr7:137954775-137954776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569134044	chr7:137954884-137954885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116951027	chr7:137954928-137954929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75001499	chr7:137954933-137954934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568724270	chr7:137954976-137954977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533520530	chr7:137954996-137954997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553468489	chr7:137955003-137955004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6943784	chr7:137955031-137955032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs535454174	chr7:137955108-137955109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572729888	chr7:137955119-137955120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555539280	chr7:137955135-137955136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369078990	chr7:137955170-137955171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146311428	chr7:137955171-137955172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71177965	chr7:137955200-137955201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189446619	chr7:137955222-137955223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544563946	chr7:137955235-137955236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180899174	chr7:137955252-137955253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372782995	chr7:137955311-137955312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377422331	chr7:137955312-137955313	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
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
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
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137947600-137961600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:137953000-137974000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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