Variant report

Variant	nsv591269
Chromosome Location	chr3:109447463-109496029
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:109450505..109451071-chr3:111255623..111256423,2	MCF-7	breast:
2	chr11:63952505..63954555-chr3:109463070..109465225,2	MCF-7	breast:
3	chr3:109470837..109472436-chr3:109472571..109474577,2	MCF-7	breast:
4	chr3:109470837..109472436-chr3:109472571..109474577,2	MCF-7	breast:
5	chr3:109450507..109451352-chr3:110033129..110033977,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168439	chromatin interactions

Extended variants
information (count: 443 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:443 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528697732	chr3:109447824-109447825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73218592	chr3:109447837-109447838	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs145038834	chr3:109448004-109448005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530399203	chr3:109448042-109448043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111435299	chr3:109448053-109448054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114662984	chr3:109448115-109448116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115838395	chr3:109448126-109448127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73853552	chr3:109448191-109448192	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566284535	chr3:109448224-109448225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79279406	chr3:109448276-109448277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190620630	chr3:109448288-109448289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145073291	chr3:109448319-109448320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139323350	chr3:109448370-109448371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548216129	chr3:109448373-109448374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146810025	chr3:109448395-109448396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370443702	chr3:109448430-109448431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140586771	chr3:109448437-109448438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116707455	chr3:109448449-109448450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377074878	chr3:109448456-109448457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181442488	chr3:109448480-109448481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543405397	chr3:109448515-109448516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537263449	chr3:109448517-109448518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187423400	chr3:109448534-109448535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573320844	chr3:109448560-109448561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558564264	chr3:109448587-109448588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568230039	chr3:109448603-109448604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145646903	chr3:109448604-109448605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191838100	chr3:109448633-109448634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148075989	chr3:109448643-109448644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563738378	chr3:109448677-109448678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532768200	chr3:109448706-109448707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546249253	chr3:109448769-109448770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536868506	chr3:109448787-109448788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199576415	chr3:109448807-109448808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200860766	chr3:109448808-109448809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201201118	chr3:109448809-109448810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76699949	chr3:109448815-109448816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541539265	chr3:109448872-109448873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142010329	chr3:109448876-109448877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549145394	chr3:109448892-109448893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568997359	chr3:109448913-109448914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559246481	chr3:109448956-109448957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538140493	chr3:109449005-109449006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558084449	chr3:109449061-109449062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72944359	chr3:109449150-109449151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs201058623	chr3:109449160-109449161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73853553	chr3:109449171-109449172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376783633	chr3:109449181-109449182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367604759	chr3:109449183-109449184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4989132	chr3:109449185-109449186	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
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109447800-109448400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:109448000-109448400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr3:109448200-109448600	Enhancers	Pancreas	Pancrea
4	chr3:109448600-109452000	Weak transcription	Pancreas	Pancrea
5	chr3:109450600-109452000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:109451000-109451400	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr3:109451000-109451400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr3:109451000-109451400	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr3:109451000-109451600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:109451000-109451600	Enhancers	Dnd41	blood
11	chr3:109451000-109451800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr3:109451000-109452200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:109451200-109452200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr3:109452800-109453000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:109453000-109453800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:109453800-109454600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:109455400-109456000	Weak transcription	Pancreas	Pancrea
18	chr3:109455800-109456600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:109456000-109456200	ZNF genes & repeats	Pancreas	Pancrea
20	chr3:109456000-109456600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:109463000-109463400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr3:109463200-109463400	Enhancers	Fetal Brain Male	brain
23	chr3:109463200-109463600	Enhancers	Fetal Heart	heart
24	chr3:109463200-109463800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:109464000-109464200	Enhancers	Fetal Brain Male	brain
26	chr3:109472200-109472800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr3:109472200-109472800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr3:109472400-109473200	Enhancers	H9 Cell Line	embryonic stem cell
29	chr3:109472400-109473200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr3:109472600-109473000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr3:109478000-109478200	ZNF genes & repeats	Dnd41	blood
32	chr3:109491800-109493200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr3:109491800-109493600	Enhancers	Dnd41	blood
34	chr3:109492000-109493000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr3:109492400-109493000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr3:109492400-109493000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr3:109492400-109493600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:109492400-109493800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:109492600-109493000	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr3:109492600-109493200	Enhancers	Primary T helper cells PMA-I stimulated	--

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