Variant report

Variant	esv3528116
Chromosome Location	chr7:152573619-152581717
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	chr7:152579764..152582618-chr7:152582965..152586038,3	K562	blood:

Extended variants
information (count: 373 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370598407	chr7:152573640-152573641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373964576	chr7:152573643-152573644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182074894	chr7:152573646-152573647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186890884	chr7:152573648-152573649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558598745	chr7:152573692-152573693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571480041	chr7:152573698-152573699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115342903	chr7:152573714-152573715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556370310	chr7:152573728-152573729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541211402	chr7:152573741-152573742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189010436	chr7:152573744-152573745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182057652	chr7:152573812-152573813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574687175	chr7:152573889-152573890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536647321	chr7:152573896-152573897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1880124	chr7:152573935-152573936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs374422565	chr7:152573936-152573937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117413916	chr7:152573942-152573943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59653945	chr7:152573967-152573968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs535908230	chr7:152573973-152573974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564586964	chr7:152573998-152573999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147847479	chr7:152574056-152574057	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs547076421	chr7:152574057-152574058	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs558805254	chr7:152574084-152574085	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs117204154	chr7:152574088-152574089	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs139801669	chr7:152574158-152574159	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs555167288	chr7:152574174-152574175	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs371205966	chr7:152574184-152574185	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs186432307	chr7:152574218-152574219	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs569238386	chr7:152574229-152574230	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs536634413	chr7:152574238-152574239	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs558310413	chr7:152574250-152574251	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs113793200	chr7:152574257-152574258	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs534372926	chr7:152574317-152574318	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs147620733	chr7:152574358-152574359	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs149049395	chr7:152574386-152574387	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs6943923	chr7:152574391-152574392	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs557271421	chr7:152574430-152574431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575643172	chr7:152574530-152574531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541320462	chr7:152574567-152574568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117822040	chr7:152574638-152574639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567998955	chr7:152574664-152574665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111582937	chr7:152574687-152574688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200337285	chr7:152574763-152574764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528497096	chr7:152574802-152574803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376481469	chr7:152574826-152574827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2948961	chr7:152574929-152574930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs531228307	chr7:152574948-152574949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189879263	chr7:152574966-152574967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201665710	chr7:152575002-152575003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116543623	chr7:152575051-152575052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2966497	chr7:152575075-152575076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	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
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152562400-152574000	Weak transcription	Pancreas	Pancrea
2	chr7:152567200-152584200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:152567600-152574800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:152573600-152573800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:152573800-152581200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:152574000-152574400	ZNF genes & repeats	Pancreas	Pancrea
7	chr7:152578000-152591200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:152580600-152581600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:152580600-152581800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:152580800-152581000	Enhancers	Stomach Smooth Muscle	stomach
11	chr7:152580800-152581600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr7:152580800-152581800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr7:152580800-152582400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:152581200-152581600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:152581200-152581800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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