Variant report

Variant	nsv1014265
Chromosome Location	chr3:68867645-68921748
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 774 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:774 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537079905	chr3:68867697-68867698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114618210	chr3:68867753-68867754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559619193	chr3:68867757-68867758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141879750	chr3:68867770-68867771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559294466	chr3:68867771-68867772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573034257	chr3:68867799-68867800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1602200	chr3:68867842-68867843	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551527443	chr3:68867875-68867876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564274743	chr3:68867905-68867906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183891024	chr3:68867914-68867915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549784234	chr3:68867933-68867934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147104762	chr3:68867937-68867938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188742896	chr3:68867996-68867997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549689244	chr3:68868030-68868031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566238320	chr3:68868041-68868042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28688375	chr3:68868056-68868057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138499010	chr3:68868079-68868080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149608222	chr3:68868086-68868087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571383197	chr3:68868103-68868104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537117935	chr3:68868119-68868120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117455790	chr3:68868136-68868137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6764924	chr3:68868137-68868138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs535862213	chr3:68868182-68868183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553279992	chr3:68868245-68868246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34903671	chr3:68868278-68868279	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs544818786	chr3:68868279-68868280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62254117	chr3:68868283-68868284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144367868	chr3:68868314-68868315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564708981	chr3:68868329-68868330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549594469	chr3:68868335-68868336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143522342	chr3:68868336-68868337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567532971	chr3:68868352-68868353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536415922	chr3:68868353-68868354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112670146	chr3:68868374-68868375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180833950	chr3:68868385-68868386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200304743	chr3:68868426-68868427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149566038	chr3:68868431-68868432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200193931	chr3:68868432-68868433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs59090610	chr3:68868446-68868447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552027514	chr3:68868507-68868508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571824652	chr3:68868538-68868539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537153162	chr3:68868546-68868547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11920714	chr3:68868560-68868561	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs55691267	chr3:68868565-68868566	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs536279504	chr3:68868586-68868587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552659667	chr3:68868623-68868624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148004959	chr3:68868625-68868626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534706236	chr3:68868657-68868658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11920741	chr3:68868665-68868666	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577664307	chr3:68868691-68868692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68866400-68868200	Weak transcription	HUVEC	blood vessel
2	chr3:68867200-68872800	Weak transcription	Aorta	Aorta
3	chr3:68868200-68868400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:68868200-68868400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr3:68868200-68868600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr3:68868200-68869000	Enhancers	HUVEC	blood vessel
7	chr3:68868400-68869400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:68868600-68869000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:68868600-68869200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:68868600-68869400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:68869000-68869200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr3:68869000-68869800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:68869400-68869800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:68871600-68871800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:68875000-68875200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:68875400-68882000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:68881600-68882200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:68882000-68882200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:68882000-68882200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:68882000-68882200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:68882000-68882200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:68882000-68882200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:68882000-68882400	Enhancers	Gastric	stomach
24	chr3:68887800-68888000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:68889000-68889400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:68904600-68905400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:68904600-68905400	Enhancers	HMEC	breast
28	chr3:68904800-68905200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr3:68910200-68912000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:68910800-68911200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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