Variant report

Variant	nsv1003779
Chromosome Location	chr3:68470899-68517125
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	chr3:68506304..68508381-chr3:68512161..68513963,2	MCF-7	breast:
2	chr3:68506304..68508381-chr3:68512161..68513963,2	MCF-7	breast:

Extended variants
information (count: 1697 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1697 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533194910	chr3:68470929-68470930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188137633	chr3:68470997-68470998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540188467	chr3:68471090-68471091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142792423	chr3:68471117-68471118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181006361	chr3:68471139-68471140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9842711	chr3:68471185-68471186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs566305568	chr3:68471203-68471204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532193086	chr3:68471217-68471218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528180704	chr3:68471219-68471220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187130458	chr3:68471227-68471228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571193195	chr3:68471235-68471236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77385165	chr3:68471259-68471260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557180323	chr3:68471329-68471330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371401867	chr3:68471348-68471349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567439753	chr3:68471391-68471392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536189809	chr3:68471394-68471395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569014713	chr3:68471404-68471405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147491987	chr3:68471429-68471430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116778844	chr3:68471476-68471477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373956312	chr3:68471484-68471485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561473713	chr3:68471486-68471487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557976015	chr3:68471516-68471517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577930404	chr3:68471571-68471572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192148713	chr3:68471573-68471574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182196177	chr3:68471604-68471605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530356187	chr3:68471618-68471619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185898333	chr3:68471630-68471631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79696026	chr3:68471637-68471638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114392334	chr3:68471648-68471649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559952939	chr3:68471776-68471777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528716411	chr3:68471830-68471831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551409079	chr3:68471877-68471878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568408784	chr3:68471924-68471925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376209847	chr3:68472022-68472023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73835139	chr3:68472073-68472074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs530670073	chr3:68472075-68472076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550300008	chr3:68472076-68472077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34810749	chr3:68472086-68472087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148537642	chr3:68472184-68472185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536123726	chr3:68472190-68472191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546502944	chr3:68472219-68472220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566286339	chr3:68472247-68472248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190664593	chr3:68472271-68472272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558759608	chr3:68472313-68472314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369647833	chr3:68472314-68472315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182634693	chr3:68472340-68472341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554538635	chr3:68472352-68472353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141877250	chr3:68472357-68472358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550490422	chr3:68472371-68472372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560091114	chr3:68472375-68472376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68467200-68472400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:68469800-68477400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:68470400-68472600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:68470400-68472600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:68472400-68472800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr3:68472600-68472800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:68472600-68472800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:68472800-68475000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:68473600-68474600	Enhancers	Colon Smooth Muscle	Colon
10	chr3:68474200-68474600	Enhancers	Placenta	Placenta
11	chr3:68474200-68474800	Enhancers	Rectal Smooth Muscle	rectum
12	chr3:68474400-68475200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr3:68475000-68479400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:68475200-68477400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr3:68477400-68477800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:68477400-68477800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr3:68477800-68487400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:68479400-68479600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:68479600-68480000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:68480000-68482800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:68480400-68480800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr3:68480400-68480800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr3:68480400-68481000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr3:68482800-68483600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:68483200-68483600	Enhancers	Rectal Smooth Muscle	rectum
26	chr3:68483600-68484400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:68483600-68486200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr3:68483800-68486200	Weak transcription	Colon Smooth Muscle	Colon
29	chr3:68484400-68484600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr3:68484400-68485800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:68484600-68486200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr3:68485600-68486800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr3:68485800-68486000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr3:68486200-68486800	Enhancers	Rectal Smooth Muscle	rectum
35	chr3:68486200-68487000	Enhancers	Colon Smooth Muscle	Colon
36	chr3:68486200-68487200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr3:68486800-68489800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr3:68487200-68490200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr3:68487400-68488200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:68487800-68488000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:68489800-68490000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr3:68490000-68490600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr3:68490200-68491000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr3:68490600-68490800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr3:68490800-68497000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr3:68491000-68497000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr3:68494800-68495200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr3:68494800-68495200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr3:68497000-68497200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr3:68497000-68497400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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