Variant report

Variant	esv3476683
Chromosome Location	chr7:119728555-119731144
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:118910028..118911067-chr7:119729751..119730686,4	MCF-7	breast:
2	chr7:119575273..119576130-chr7:119729584..119730323,3	MCF-7	breast:
3	chr7:119725916..119728795-chr7:119761662..119763458,2	K562	blood:
4	chr7:119575213..119576061-chr7:119729704..119730242,2	MCF-7	breast:

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

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79458267	chr7:119729218-119729219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs140718393	chr7:119729352-119729353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs563757267	chr7:119729360-119729361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs557826931	chr7:119729375-119729376	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs577655333	chr7:119729382-119729383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs200283210	chr7:119729395-119729396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs201118823	chr7:119729400-119729401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs369145726	chr7:119729411-119729412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs138587667	chr7:119729412-119729413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs144662294	chr7:119729413-119729414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs142595747	chr7:119729414-119729415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs151107896	chr7:119729415-119729416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs78625085	chr7:119729416-119729417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs146063929	chr7:119729417-119729418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs142188052	chr7:119729418-119729419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs141082568	chr7:119729419-119729420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs145444394	chr7:119729420-119729421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs372032408	chr7:119729421-119729422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs373150905	chr7:119729422-119729423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs150586558	chr7:119729424-119729425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs570166684	chr7:119729425-119729426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs140614027	chr7:119729426-119729427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs145046559	chr7:119729427-119729428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs142907100	chr7:119729428-119729429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs149656520	chr7:119729429-119729430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs146646071	chr7:119729430-119729431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs150393260	chr7:119729431-119729432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs143624245	chr7:119729432-119729433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs142395913	chr7:119729433-119729434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs145821087	chr7:119729434-119729435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs146451929	chr7:119729435-119729436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs149307420	chr7:119729436-119729437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs141586947	chr7:119729437-119729438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs140819409	chr7:119729438-119729439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs112711721	chr7:119729439-119729440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs142213655	chr7:119729440-119729441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs140921865	chr7:119729441-119729442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs148178920	chr7:119729442-119729443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs147493151	chr7:119729443-119729444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs144079578	chr7:119729444-119729445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs140088154	chr7:119729445-119729446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs139230168	chr7:119729446-119729447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs150619372	chr7:119729447-119729448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs117311362	chr7:119729452-119729453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs140742686	chr7:119729455-119729456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs138190594	chr7:119729469-119729470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs146664505	chr7:119729519-119729520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs140322872	chr7:119729524-119729525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs376033572	chr7:119729525-119729526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs59447974	chr7:119729547-119729548	ZNF genes & repeats	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
Autism	22495311	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
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	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
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119729200-119729600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:119729600-119730200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:119730200-119730400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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