Variant report

Variant	nsv1004976
Chromosome Location	chr3:76098108-76218646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3215 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:3215 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111765566	chr3:76098110-76098111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149866083	chr3:76098129-76098130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372681616	chr3:76098134-76098135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182201302	chr3:76098158-76098159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557222899	chr3:76098160-76098161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184380005	chr3:76098174-76098175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367593879	chr3:76098182-76098183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377749197	chr3:76098187-76098188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371448279	chr3:76098188-76098189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73113006	chr3:76098273-76098274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564275351	chr3:76098329-76098330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528397690	chr3:76098464-76098465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540562277	chr3:76098518-76098519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138348207	chr3:76098533-76098534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2035698	chr3:76098536-76098537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2035699	chr3:76098538-76098539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78323676	chr3:76098554-76098555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2171640	chr3:76098556-76098557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2035700	chr3:76098557-76098558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2035701	chr3:76098559-76098560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112321094	chr3:76098636-76098637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116928921	chr3:76098661-76098662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117273382	chr3:76098681-76098682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2035702	chr3:76098687-76098688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs371116454	chr3:76098716-76098717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs59826747	chr3:76098779-76098780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58849107	chr3:76098806-76098807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181423958	chr3:76098810-76098811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78527871	chr3:76098813-76098814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568859409	chr3:76098842-76098843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546927499	chr3:76098884-76098885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540508399	chr3:76098965-76098966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200062665	chr3:76099069-76099070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17013699	chr3:76099080-76099081	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs557284846	chr3:76099118-76099119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575667994	chr3:76099147-76099148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73841097	chr3:76099167-76099168	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs185617948	chr3:76099184-76099185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547888102	chr3:76099211-76099212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190770803	chr3:76099219-76099220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568260426	chr3:76099230-76099231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540420775	chr3:76099231-76099232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77838699	chr3:76099290-76099291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79311496	chr3:76099327-76099328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79065457	chr3:76099367-76099368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562476909	chr3:76099402-76099403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532767348	chr3:76099429-76099430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181808281	chr3:76099505-76099506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559980759	chr3:76099579-76099580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539025330	chr3:76099605-76099606	Enhancers 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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:76090400-76099600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:76090600-76099800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:76094200-76099000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:76094200-76099600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:76094200-76101200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:76094600-76099600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:76094800-76099600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:76095000-76111000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:76095400-76099400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:76096800-76099800	Weak transcription	Aorta	Aorta
11	chr3:76097400-76099000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr3:76097800-76098200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:76098000-76099800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr3:76099000-76099200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:76099000-76100000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr3:76099200-76099600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr3:76099400-76100200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:76099600-76100000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr3:76099600-76100000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:76099600-76100200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr3:76099600-76100200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr3:76099600-76100800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:76099800-76100000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:76099800-76100000	Enhancers	Aorta	Aorta
25	chr3:76099800-76100200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr3:76099800-76100200	Enhancers	Fetal Intestine Large	intestine
27	chr3:76100000-76100600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:76100200-76100800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:76100600-76100800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:76100600-76101000	Enhancers	HMEC	breast
31	chr3:76100800-76101000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr3:76101200-76101400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr3:76105800-76106600	Enhancers	Stomach Mucosa	stomach
34	chr3:76106600-76111800	Weak transcription	Stomach Mucosa	stomach
35	chr3:76108600-76111800	Weak transcription	NH-A	brain
36	chr3:76109800-76110400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr3:76109800-76113400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr3:76110400-76110800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
39	chr3:76110400-76112200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr3:76110800-76111800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr3:76111000-76111400	Enhancers	H9 Cell Line	embryonic stem cell
42	chr3:76111000-76113400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr3:76111200-76111400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:76111400-76111800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr3:76111400-76113200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:76111600-76113600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr3:76111600-76113600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr3:76111800-76112000	Enhancers	H9 Cell Line	embryonic stem cell
49	chr3:76111800-76112000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:76111800-76112400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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