Variant report

Variant	esv3433766
Chromosome Location	chr3:162246108-162248206
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	chr3:162247272..162249136-chr3:162250613..162253202,3	MCF-7	breast:
2	chr3:162248022..162250123-chr3:162255012..162257585,2	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554312402	chr3:162246144-162246145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574170369	chr3:162246190-162246191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548559186	chr3:162246203-162246204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34620462	chr3:162246246-162246247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35731138	chr3:162246257-162246258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527551305	chr3:162246269-162246270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1478145	chr3:162246284-162246285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs577976165	chr3:162246322-162246323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534503300	chr3:162246337-162246338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1478144	chr3:162246345-162246346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs571008226	chr3:162246358-162246359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186088262	chr3:162246400-162246401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559955279	chr3:162246409-162246410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573499655	chr3:162246486-162246487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79873441	chr3:162246516-162246517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1471415	chr3:162246544-162246545	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs531011836	chr3:162246565-162246566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544685390	chr3:162246571-162246572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs997688	chr3:162246607-162246608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs189235415	chr3:162246655-162246656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552099513	chr3:162246691-162246692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181753962	chr3:162246693-162246694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528400992	chr3:162246714-162246715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6803728	chr3:162246756-162246757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537317396	chr3:162246783-162246784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142526968	chr3:162246784-162246785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567682477	chr3:162246789-162246790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536668786	chr3:162246829-162246830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs3885626	chr3:162246897-162246898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs3885636	chr3:162246898-162246899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs187202261	chr3:162246922-162246923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370794503	chr3:162246944-162246945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376080724	chr3:162246945-162246946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545350816	chr3:162246946-162246947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs58831226	chr3:162246987-162246988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13060465	chr3:162246988-162246989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143255977	chr3:162246990-162246991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201430614	chr3:162247036-162247037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9827825	chr3:162247037-162247038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs369087007	chr3:162247038-162247039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200530961	chr3:162247039-162247040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs202139898	chr3:162247042-162247043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12631640	chr3:162247043-162247044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13080404	chr3:162247044-162247045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12629216	chr3:162247049-162247050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs556112505	chr3:162247059-162247060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9866048	chr3:162247075-162247076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs544622280	chr3:162247087-162247088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371071153	chr3:162247106-162247107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536445705	chr3:162247144-162247145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162237800-162248200	Weak transcription	Dnd41	blood
2	chr3:162243400-162246400	Weak transcription	Psoas Muscle	Psoas
3	chr3:162244200-162246400	Weak transcription	HSMM	muscle
4	chr3:162246400-162246600	Enhancers	Psoas Muscle	Psoas
5	chr3:162248200-162248800	ZNF genes & repeats	Dnd41	blood

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