Variant report

Variant	esv3404915
Chromosome Location	chr7:109303316-109304514
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	chr7:109302932..109305473-chr7:109306477..109308301,2	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187767990	chr7:109303350-109303351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540716188	chr7:109303368-109303369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191081945	chr7:109303374-109303375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145807646	chr7:109303392-109303393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74520004	chr7:109303445-109303446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142962490	chr7:109303462-109303463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569124716	chr7:109303501-109303502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531844748	chr7:109303522-109303523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552057312	chr7:109303530-109303531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571895560	chr7:109303550-109303551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369391971	chr7:109303615-109303616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369868045	chr7:109303642-109303643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201443188	chr7:109303646-109303647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62473342	chr7:109303650-109303651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377075166	chr7:109303654-109303655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377308750	chr7:109303655-109303656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139143704	chr7:109303658-109303659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550366534	chr7:109303662-109303663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182107701	chr7:109303667-109303668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186978565	chr7:109303690-109303691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372997069	chr7:109303721-109303722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28454499	chr7:109303727-109303728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28588434	chr7:109303735-109303736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72543045	chr7:109303738-109303739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574822050	chr7:109303740-109303741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28482108	chr7:109303741-109303742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs28413062	chr7:109303743-109303744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs375828320	chr7:109303750-109303751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200677110	chr7:109303755-109303756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201155252	chr7:109303757-109303758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28444373	chr7:109303761-109303762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28371899	chr7:109303763-109303764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28398958	chr7:109303769-109303770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28521871	chr7:109303771-109303772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28522621	chr7:109303789-109303790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28548102	chr7:109303791-109303792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28520547	chr7:109303797-109303798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577489347	chr7:109303798-109303799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184757326	chr7:109303814-109303815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28680307	chr7:109303818-109303819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371224087	chr7:109303824-109303825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71542773	chr7:109303825-109303826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550965130	chr7:109303828-109303829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71141679	chr7:109303844-109303845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527373564	chr7:109303934-109303935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188562617	chr7:109303937-109303938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560703212	chr7:109303944-109303945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34709209	chr7:109303976-109303977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535984050	chr7:109303985-109303986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536763118	chr7:109304079-109304080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Acute myeloid leukemia	16864856	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109298000-109305400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:109303000-109303600	Enhancers	Dnd41	blood

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