Variant report

Variant	esv3367822
Chromosome Location	chr7:126271684-126278372
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	chr5:5431864..5432633-chr7:126274991..126275821,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141015114	chr7:126274463-126274464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs180817382	chr7:126274478-126274479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117512599	chr7:126274514-126274515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555384200	chr7:126274569-126274570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573770087	chr7:126274583-126274584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569986653	chr7:126274588-126274589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537678662	chr7:126274613-126274614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78943796	chr7:126274623-126274624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143112603	chr7:126274644-126274645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77326558	chr7:126274645-126274646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560452989	chr7:126274723-126274724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1544331	chr7:126274731-126274732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs3831570	chr7:126274732-126274733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376180828	chr7:126274733-126274734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141905242	chr7:126274798-126274799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2299482	chr7:126274822-126274823	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs2299483	chr7:126274836-126274837	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs550428353	chr7:126274860-126274861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377498448	chr7:126274891-126274892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369048216	chr7:126274961-126274962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528636892	chr7:126275059-126275060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533029496	chr7:126275063-126275064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2299484	chr7:126275064-126275065	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs569507699	chr7:126275078-126275079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566420651	chr7:126275081-126275082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533592747	chr7:126275235-126275236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539715030	chr7:126275271-126275272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139916797	chr7:126275292-126275293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371999362	chr7:126275293-126275294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72574981	chr7:126275295-126275296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs3831571	chr7:126275296-126275297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79919164	chr7:126275297-126275298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558256200	chr7:126275301-126275302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200894771	chr7:126275302-126275303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370865362	chr7:126275305-126275306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374317983	chr7:126275306-126275307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2299485	chr7:126275318-126275319	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs73224997	chr7:126275326-126275327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550574234	chr7:126275342-126275343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371689596	chr7:126275386-126275387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555913753	chr7:126275438-126275439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567243088	chr7:126275499-126275500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574853731	chr7:126275500-126275501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187418512	chr7:126275521-126275522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536272344	chr7:126275655-126275656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75089958	chr7:126275663-126275664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539085306	chr7:126275682-126275683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370093910	chr7:126275691-126275692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552755686	chr7:126275701-126275702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572900221	chr7:126275753-126275754	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126274400-126276200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr7:126274800-126276200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:126275000-126275200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:126275600-126276200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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