Variant report

Variant	esv2647987
Chromosome Location	chr3:160538803-160540188
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	chr3:160395405..160397806-chr3:160539467..160541973,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 57 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548778562	chr3:160538845-160538846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111979020	chr3:160538886-160538887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531680990	chr3:160538894-160538895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551465010	chr3:160538897-160538898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184176996	chr3:160538899-160538900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369015085	chr3:160538910-160538911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs16831516	chr3:160538911-160538912	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567769624	chr3:160538932-160538933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76874930	chr3:160538950-160538951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs36118557	chr3:160538990-160538991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556840953	chr3:160538997-160538998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576639203	chr3:160539002-160539003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545716331	chr3:160539037-160539038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111658067	chr3:160539038-160539039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536892590	chr3:160539142-160539143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558999853	chr3:160539194-160539195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577535257	chr3:160539218-160539219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3907061	chr3:160539238-160539239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs551493811	chr3:160539247-160539248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9881758	chr3:160539256-160539257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs573445474	chr3:160539356-160539357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542412141	chr3:160539440-160539441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138850608	chr3:160539441-160539442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187482974	chr3:160539470-160539471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551619772	chr3:160539479-160539480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141958819	chr3:160539493-160539494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191111356	chr3:160539542-160539543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547852124	chr3:160539554-160539555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567758675	chr3:160539603-160539604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs5853905	chr3:160539641-160539642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182503764	chr3:160539642-160539643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397877057	chr3:160539649-160539650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550379369	chr3:160539674-160539675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146289852	chr3:160539726-160539727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576782809	chr3:160539750-160539751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538880929	chr3:160539754-160539755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568022093	chr3:160539781-160539782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543814264	chr3:160539811-160539812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556466135	chr3:160539825-160539826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572661983	chr3:160539856-160539857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533536828	chr3:160539880-160539881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553401034	chr3:160539951-160539952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187201636	chr3:160539986-160539987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542349005	chr3:160540003-160540004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74384220	chr3:160540007-160540008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530537124	chr3:160540016-160540017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544879706	chr3:160540094-160540095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574633139	chr3:160540115-160540116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527631770	chr3:160540125-160540126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376743290	chr3:160540174-160540175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	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
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160530800-160540800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr3:160530800-160543200	Weak transcription	Psoas Muscle	Psoas
3	chr3:160536400-160540200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:160537800-160543400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:160538800-160539000	Enhancers	Gastric	stomach
6	chr3:160539000-160539200	Weak transcription	Gastric	stomach

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