Variant report

Variant	esv3436248
Chromosome Location	chr7:152807719-152811917
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:152810422..152812239-chr7:153097689..153099428,2	K562	blood:
2	chr21:15652023..15652746-chr7:152811109..152812098,2	MCF-7	breast:
3	chr7:152786648..152788875-chr7:152810703..152813051,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544292023	chr7:152807750-152807751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562579680	chr7:152807841-152807842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189074495	chr7:152807852-152807853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192514062	chr7:152807868-152807869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560471558	chr7:152807884-152807885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527549941	chr7:152807892-152807893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138635775	chr7:152807946-152807947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183946807	chr7:152807955-152807956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561290778	chr7:152807961-152807962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2735623	chr7:152808010-152808011	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs527379587	chr7:152808223-152808224	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369922537	chr7:152808228-152808229	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571543324	chr7:152808229-152808230	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113549420	chr7:152808238-152808239	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188228058	chr7:152808264-152808265	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541355746	chr7:152808318-152808319	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566041168	chr7:152808319-152808320	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554888574	chr7:152808339-152808340	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556693070	chr7:152808360-152808361	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536500574	chr7:152808371-152808372	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372303117	chr7:152808390-152808391	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555115208	chr7:152808394-152808395	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573570305	chr7:152808418-152808419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548804858	chr7:152808447-152808448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114678874	chr7:152808538-152808539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556200027	chr7:152808539-152808540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577782202	chr7:152808540-152808541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571506006	chr7:152810603-152810604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs685255	chr7:152810607-152810608	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs111898182	chr7:152810695-152810696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139588446	chr7:152810696-152810697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190024939	chr7:152810722-152810723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192673046	chr7:152810740-152810741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567356828	chr7:152810747-152810748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185415728	chr7:152810788-152810789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149683900	chr7:152810804-152810805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577896284	chr7:152810869-152810870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs686562	chr7:152810890-152810891	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs554057902	chr7:152810908-152810909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558988	chr7:152810916-152810917	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs145523795	chr7:152810917-152810918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561082184	chr7:152810918-152810919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531740934	chr7:152810953-152810954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74588648	chr7:152810992-152810993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs80262178	chr7:152810993-152810994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532587591	chr7:152811020-152811021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547639488	chr7:152811059-152811060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148811120	chr7:152811127-152811128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538983881	chr7:152811155-152811156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559579650	chr7:152811157-152811158	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152789200-152808400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:152808000-152808400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:152808400-152808600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:152810600-152811600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:152810600-152811800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:152810800-152811400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:152811000-152811400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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