Variant report

Variant	nsv979851
Chromosome Location	chr3:79138392-79143025
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 173 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368359552	chr3:79138469-79138470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566586210	chr3:79138530-79138531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139182386	chr3:79138532-79138533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192770333	chr3:79138576-79138577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145297762	chr3:79138583-79138584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545207234	chr3:79138657-79138658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557484858	chr3:79138673-79138674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577639434	chr3:79138749-79138750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147875276	chr3:79138830-79138831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554333765	chr3:79138832-79138833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75586398	chr3:79138858-79138859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141584450	chr3:79138907-79138908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556854930	chr3:79138923-79138924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370604475	chr3:79138924-79138925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116670048	chr3:79138952-79138953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545390453	chr3:79138954-79138955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565161179	chr3:79138977-79138978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147057406	chr3:79138979-79138980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147700815	chr3:79138996-79138997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541210223	chr3:79139002-79139003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560294297	chr3:79139007-79139008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560163020	chr3:79139030-79139031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149170541	chr3:79139031-79139032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374846760	chr3:79139040-79139041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548778542	chr3:79139063-79139064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200482791	chr3:79139089-79139090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72074754	chr3:79139090-79139091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201979118	chr3:79139091-79139092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72026557	chr3:79139092-79139093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs33965182	chr3:79139093-79139094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201700709	chr3:79139094-79139095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28415144	chr3:79139095-79139096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185492709	chr3:79139113-79139114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143323386	chr3:79139136-79139137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367948098	chr3:79139161-79139162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571194780	chr3:79139189-79139190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533700200	chr3:79139192-79139193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533881700	chr3:79139235-79139236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553541039	chr3:79139242-79139243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567377724	chr3:79139298-79139299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369000870	chr3:79139309-79139310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373273198	chr3:79139329-79139330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375305680	chr3:79139377-79139378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536805152	chr3:79139378-79139379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556814409	chr3:79139383-79139384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566901525	chr3:79139397-79139398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148352976	chr3:79139412-79139413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190792112	chr3:79139423-79139424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558904521	chr3:79139494-79139495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572397352	chr3:79139514-79139515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:79136000-79138400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:79137800-79139600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr3:79138000-79139200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:79138000-79140800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr3:79138000-79147200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:79138400-79141000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:79139600-79140000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:79139800-79140000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr3:79140000-79141200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:79140800-79141400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:79141000-79141200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:79141200-79141400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:79141400-79157200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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