Variant report

Variant	nsv963404
Chromosome Location	chr3:75379294-75381426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543710423	chr3:75379297-75379298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565198954	chr3:75379360-75379361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146913769	chr3:75379383-75379384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541613327	chr3:75379430-75379431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs80276138	chr3:75379449-75379450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529782448	chr3:75379473-75379474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547942000	chr3:75379483-75379484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563292726	chr3:75379507-75379508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530468399	chr3:75379511-75379512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76779067	chr3:75379575-75379576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528321817	chr3:75379665-75379666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192048297	chr3:75379676-75379677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531724406	chr3:75379684-75379685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527688156	chr3:75379689-75379690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62259066	chr3:75379745-75379746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566075337	chr3:75379776-75379777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139220290	chr3:75379787-75379788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554598886	chr3:75379794-75379795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569724214	chr3:75379852-75379853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183421232	chr3:75379853-75379854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558872449	chr3:75379888-75379889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186446697	chr3:75379894-75379895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532960923	chr3:75379904-75379905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139504087	chr3:75379905-75379906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577447769	chr3:75379943-75379944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76471945	chr3:75380028-75380029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528273047	chr3:75380063-75380064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553544011	chr3:75380181-75380182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574904798	chr3:75380245-75380246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28415035	chr3:75380286-75380287	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs147514627	chr3:75380293-75380294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545137698	chr3:75380297-75380298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536781456	chr3:75380332-75380333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190867375	chr3:75380338-75380339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138188235	chr3:75380344-75380345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182343957	chr3:75380452-75380453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28379742	chr3:75380453-75380454	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs546550851	chr3:75380471-75380472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149589866	chr3:75380478-75380479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144233822	chr3:75380486-75380487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548317570	chr3:75380504-75380505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186672148	chr3:75380519-75380520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537077312	chr3:75380523-75380524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535516996	chr3:75380538-75380539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558515409	chr3:75380560-75380561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570725154	chr3:75380566-75380567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543880818	chr3:75380598-75380599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560519580	chr3:75380624-75380625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148725672	chr3:75380671-75380672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144136695	chr3:75380689-75380690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	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
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75375000-75382400	Weak transcription	Gastric	stomach
2	chr3:75376000-75382800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:75376600-75379400	Enhancers	Fetal Lung	lung
4	chr3:75376800-75381600	Weak transcription	Right Atrium	heart
5	chr3:75377800-75380400	Weak transcription	Spleen	Spleen
6	chr3:75378200-75379400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr3:75378600-75379400	Enhancers	Fetal Stomach	stomach
8	chr3:75378600-75379800	Enhancers	Fetal Muscle Trunk	muscle
9	chr3:75378600-75380000	Enhancers	Fetal Muscle Leg	muscle
10	chr3:75378800-75379800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:75378800-75380400	Weak transcription	Pancreas	Pancrea
12	chr3:75379000-75379400	Enhancers	Brain Germinal Matrix	brain
13	chr3:75379200-75380600	Weak transcription	Colon Smooth Muscle	Colon
14	chr3:75379200-75380600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr3:75379400-75381400	Weak transcription	Fetal Lung	lung
16	chr3:75379800-75381200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:75380000-75381400	Weak transcription	Fetal Muscle Leg	muscle
18	chr3:75380400-75380800	Enhancers	HepG2	liver
19	chr3:75380400-75381000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:75380400-75381000	Enhancers	Pancreas	Pancrea
21	chr3:75380400-75382600	Enhancers	Spleen	Spleen
22	chr3:75380600-75381400	Enhancers	Stomach Smooth Muscle	stomach
23	chr3:75380600-75382800	Enhancers	Colon Smooth Muscle	Colon
24	chr3:75380800-75381800	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr3:75381000-75382400	Weak transcription	Pancreas	Pancrea
26	chr3:75381000-75382600	Enhancers	Fetal Stomach	stomach
27	chr3:75381000-75382600	Enhancers	NHLF	lung
28	chr3:75381200-75383200	Enhancers	Fetal Muscle Trunk	muscle
29	chr3:75381200-75383600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:75381400-75381800	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr3:75381400-75382600	Enhancers	Fetal Lung	lung
32	chr3:75381400-75382800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:75381400-75382800	Enhancers	Fetal Muscle Leg	muscle

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