Variant report

Variant	nsv592441
Chromosome Location	chr3:163962485-164016016
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:163988892..163990964-chr3:163991912..163993953,2	K562	blood:
2	chr3:163995585..163997750-chr3:164093655..164096327,2	K562	blood:
3	chr3:163968485..163970197-chr3:163971709..163973734,2	MCF-7	breast:
4	chr3:163988892..163990964-chr3:163991912..163993953,2	K562	blood:
5	chr3:163968485..163970197-chr3:163971709..163973734,2	MCF-7	breast:

Extended variants
information (count: 2016 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2016 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13096857	chr3:163962485-163962486	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546852803	chr3:163962507-163962508	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34097582	chr3:163962535-163962536	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562823632	chr3:163962671-163962672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567059712	chr3:163962743-163962744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538621224	chr3:163962751-163962752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531628000	chr3:163962764-163962765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551815490	chr3:163962765-163962766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571682666	chr3:163962852-163962853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534378913	chr3:163962866-163962867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35115472	chr3:163962869-163962870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75907741	chr3:163962892-163962893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528209707	chr3:163963013-163963014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540408501	chr3:163963047-163963048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547634840	chr3:163963060-163963061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567613035	chr3:163963074-163963075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536510441	chr3:163963149-163963150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138308447	chr3:163963166-163963167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149600579	chr3:163963174-163963175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538272168	chr3:163963193-163963194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191489773	chr3:163963225-163963226	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184346111	chr3:163963279-163963280	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61434093	chr3:163963280-163963281	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs189096509	chr3:163963292-163963293	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568977360	chr3:163963361-163963362	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144287049	chr3:163963403-163963404	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs60239393	chr3:163963413-163963414	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs532420826	chr3:163963421-163963422	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542296235	chr3:163963426-163963427	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563448136	chr3:163963458-163963459	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531714665	chr3:163963498-163963499	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369686732	chr3:163963527-163963528	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368641315	chr3:163963588-163963589	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565378821	chr3:163963608-163963609	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75279338	chr3:163963612-163963613	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547497239	chr3:163963621-163963622	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192986624	chr3:163963637-163963638	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142410780	chr3:163963638-163963639	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545748123	chr3:163963677-163963678	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550027234	chr3:163963725-163963726	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562856119	chr3:163963761-163963762	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536325648	chr3:163963801-163963802	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570288798	chr3:163963823-163963824	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538608661	chr3:163963829-163963830	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556012612	chr3:163963835-163963836	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572015946	chr3:163963856-163963857	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184721962	chr3:163963879-163963880	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554727157	chr3:163963924-163963925	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189129315	chr3:163963925-163963926	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543674191	chr3:163963981-163963982	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Alcoholism	21790672	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute myeloid leukemia	19651600	CNVD
Autism	19287141	CNVD
Incontinentia Pigmenti	22033527	CNVD
Rett syndrome	21593744	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glioma	20126413	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163962000-163962600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:163962600-163963200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:163963200-163995200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:163979000-163996200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:163982400-163983200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:163990800-163993200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:163994400-163995200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr3:163995200-164000600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:163996200-163997000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr3:164000600-164002200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:164002200-164003000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:164003000-164005600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:164005600-164006800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:164006800-164007200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:164007200-164007600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:164007600-164009400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:164009400-164009800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr3:164009400-164009800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr3:164009400-164009800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:164009800-164014200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:164014200-164015400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:164015400-164017000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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