Variant report

Variant	nsv965349
Chromosome Location	chr3:163254024-163262494
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:163252335..163254174-chr3:163256755..163258981,2	MCF-7	breast:
2	chr3:163259280..163261541-chr3:163262492..163264749,2	K562	blood:
3	chr3:163259280..163261541-chr3:163262492..163264749,2	K562	blood:
4	chr3:163250811..163253608-chr3:163262373..163264339,2	K562	blood:
5	chr3:163261473..163265718-chr3:163265860..163268345,3	K562	blood:
6	chr3:163252335..163254174-chr3:163256755..163258981,2	MCF-7	breast:

Extended variants
information (count: 117 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563342259	chr3:163254034-163254035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74436028	chr3:163254099-163254100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371561359	chr3:163254130-163254131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566651936	chr3:163254159-163254160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534071006	chr3:163254187-163254188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558230737	chr3:163254194-163254195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547294822	chr3:163254226-163254227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184625372	chr3:163254231-163254232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576756434	chr3:163254238-163254239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567421827	chr3:163254247-163254248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536364300	chr3:163254261-163254262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544001877	chr3:163254410-163254411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576202995	chr3:163254446-163254447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141299411	chr3:163254469-163254470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs720112	chr3:163254535-163254536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572679749	chr3:163254545-163254546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188891467	chr3:163254562-163254563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561330133	chr3:163254564-163254565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574643938	chr3:163254633-163254634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143320149	chr3:163254659-163254660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567242536	chr3:163254674-163254675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575472474	chr3:163254695-163254696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367877981	chr3:163254710-163254711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368328099	chr3:163254760-163254761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183812100	chr3:163259600-163259601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563075186	chr3:163259651-163259652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370776018	chr3:163259683-163259684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146549455	chr3:163259696-163259697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553672488	chr3:163259707-163259708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551940956	chr3:163259716-163259717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377415997	chr3:163259744-163259745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376215984	chr3:163259852-163259853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544293576	chr3:163259933-163259934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562902418	chr3:163259979-163259980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10548702	chr3:163260029-163260030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9870814	chr3:163260077-163260078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs567289630	chr3:163260139-163260140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535372652	chr3:163260159-163260160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115192424	chr3:163260175-163260176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188249149	chr3:163260228-163260229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201265872	chr3:163260239-163260240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77939755	chr3:163260244-163260245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71154487	chr3:163260245-163260246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537689265	chr3:163260252-163260253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566562303	chr3:163260259-163260260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13086756	chr3:163260372-163260373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs533849169	chr3:163260388-163260389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373443130	chr3:163260401-163260402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553811319	chr3:163260456-163260457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532228476	chr3:163260479-163260480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163253400-163254600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:163254600-163254800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:163259600-163260000	Enhancers	Hela-S3	cervix
4	chr3:163260000-163262000	Weak transcription	Hela-S3	cervix
5	chr3:163262000-163262600	Enhancers	Hela-S3	cervix

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