Variant report

Variant	nsv965387
Chromosome Location	chr3:98802936-98808444
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	chr3:98798943..98801248-chr3:98801311..98803997,2	K562	blood:

Extended variants
information (count: 230 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575830379	chr3:98802941-98802942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544619797	chr3:98802942-98802943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188680192	chr3:98802969-98802970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73857894	chr3:98802990-98802991	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs367832631	chr3:98803076-98803077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191589085	chr3:98803079-98803080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536590359	chr3:98803106-98803107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184490019	chr3:98803140-98803141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551633947	chr3:98803149-98803150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79459436	chr3:98803150-98803151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145780847	chr3:98803151-98803152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569672447	chr3:98803158-98803159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188892652	chr3:98803164-98803165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537016285	chr3:98803182-98803183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367874341	chr3:98803200-98803201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181384289	chr3:98803229-98803230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571381629	chr3:98803236-98803237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573352097	chr3:98803252-98803253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535942674	chr3:98803285-98803286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552593150	chr3:98803301-98803302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185693724	chr3:98803302-98803303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572308218	chr3:98803320-98803321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190281784	chr3:98803324-98803325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200120327	chr3:98803357-98803358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564773710	chr3:98803361-98803362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73141956	chr3:98803372-98803373	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs375485844	chr3:98803379-98803380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200109321	chr3:98803399-98803400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543993493	chr3:98803403-98803404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563868259	chr3:98803453-98803454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529448487	chr3:98803459-98803460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76812533	chr3:98803464-98803465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138234920	chr3:98803487-98803488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528455966	chr3:98803508-98803509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376718021	chr3:98803509-98803510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551400481	chr3:98803511-98803512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9847148	chr3:98803513-98803514	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs73857895	chr3:98803529-98803530	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs550411173	chr3:98803540-98803541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567116616	chr3:98803607-98803608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371773849	chr3:98803618-98803619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535978979	chr3:98803675-98803676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553012403	chr3:98803682-98803683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553576357	chr3:98803689-98803690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78409969	chr3:98803704-98803705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs180977780	chr3:98803746-98803747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185902875	chr3:98803750-98803751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs60112138	chr3:98803758-98803759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9828104	chr3:98803792-98803793	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs73857896	chr3:98803793-98803794	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98802200-98804400	Enhancers	HMEC	breast
2	chr3:98802600-98803800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:98802800-98804200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:98803000-98804200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:98803000-98804400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:98803000-98804400	Enhancers	Osteobl	bone
7	chr3:98803800-98804200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:98804200-98804400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:98804400-98806200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:98804400-98812800	Weak transcription	Osteobl	bone
11	chr3:98806200-98806400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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