Variant report

Variant	esv3422104
Chromosome Location	chr3:162307483-162310231
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	chr3:162307801..162310469-chr3:162314134..162316904,3	MCF-7	breast:

Extended variants
information (count: 150 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571212612	chr3:162307499-162307500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533504213	chr3:162307570-162307571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7426960	chr3:162307619-162307620	Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs146189730	chr3:162307654-162307655	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535991873	chr3:162307701-162307702	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138967146	chr3:162307717-162307718	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565788846	chr3:162307753-162307754	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576597207	chr3:162307759-162307760	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548313264	chr3:162307786-162307787	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191650432	chr3:162307814-162307815	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76820134	chr3:162307817-162307818	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75005014	chr3:162307837-162307838	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115548661	chr3:162307848-162307849	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541410322	chr3:162307877-162307878	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561297561	chr3:162307909-162307910	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370843443	chr3:162307921-162307922	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530196925	chr3:162307934-162307935	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75441702	chr3:162307941-162307942	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143815907	chr3:162307993-162307994	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75351074	chr3:162308071-162308072	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537724817	chr3:162308095-162308096	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112526774	chr3:162308106-162308107	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368459801	chr3:162308111-162308112	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564802640	chr3:162308141-162308142	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183533667	chr3:162308169-162308170	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187248847	chr3:162308200-162308201	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191137303	chr3:162308219-162308220	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372482494	chr3:162308233-162308234	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567182688	chr3:162308261-162308262	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182279377	chr3:162308270-162308271	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34813025	chr3:162308276-162308277	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549655468	chr3:162308294-162308295	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186940158	chr3:162308297-162308298	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556458165	chr3:162308301-162308302	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140531383	chr3:162308311-162308312	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191453515	chr3:162308332-162308333	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183073943	chr3:162308351-162308352	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368640597	chr3:162308384-162308385	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188064659	chr3:162308399-162308400	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554939810	chr3:162308442-162308443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35423336	chr3:162308446-162308447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs374135915	chr3:162308455-162308456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201599501	chr3:162308463-162308464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374984088	chr3:162308464-162308465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199922714	chr3:162308465-162308466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538505752	chr3:162308475-162308476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35798209	chr3:162308489-162308490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs66495029	chr3:162308497-162308498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376466957	chr3:162308507-162308508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34108938	chr3:162308510-162308511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162305800-162307600	Weak transcription	Dnd41	blood
2	chr3:162307600-162308400	Genic enhancers	Dnd41	blood
3	chr3:162308400-162308800	Weak transcription	Dnd41	blood
4	chr3:162308800-162310400	Enhancers	Dnd41	blood

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