Variant report

Variant	nsv967265
Chromosome Location	chr3:503691-510067
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 214 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:214 , 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	rs536345308	chr3:503705-503706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2570020	chr3:503708-503709	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs113427640	chr3:503771-503772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552070213	chr3:503802-503803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76467874	chr3:503819-503820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200409636	chr3:503826-503827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575742955	chr3:503828-503829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9845887	chr3:503858-503859	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556360919	chr3:503865-503866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs578179756	chr3:503915-503916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556345719	chr3:503974-503975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545410411	chr3:504017-504018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546279839	chr3:504054-504055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35042663	chr3:504085-504086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370513512	chr3:504126-504127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139538950	chr3:504132-504133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561324042	chr3:504149-504150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2033523	chr3:504151-504152	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs149493556	chr3:504172-504173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571388121	chr3:504185-504186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185412261	chr3:504211-504212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77033793	chr3:504215-504216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116828566	chr3:504216-504217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115329405	chr3:504217-504218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143868853	chr3:504224-504225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540096663	chr3:504242-504243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569382934	chr3:504281-504282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2033524	chr3:504313-504314	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs556322084	chr3:504341-504342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573236577	chr3:504345-504346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115149284	chr3:504357-504358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111790504	chr3:504378-504379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148624544	chr3:504435-504436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555897857	chr3:504440-504441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142065225	chr3:504451-504452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572304169	chr3:504481-504482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561297657	chr3:504483-504484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9843204	chr3:504538-504539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs3060083	chr3:504550-504551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112263250	chr3:504553-504554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531827632	chr3:504562-504563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74480659	chr3:504572-504573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564057905	chr3:504594-504595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565087003	chr3:504604-504605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563464029	chr3:504615-504616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190310083	chr3:504624-504625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575347221	chr3:504659-504660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182039325	chr3:504683-504684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569305034	chr3:504695-504696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370029898	chr3:504697-504698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Cancer	20164920	CNVD
Lung cancer	16618734	CNVD
Autism	18349135	CNVD
Breast cancer	20409316	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Intellectual disability	22045946	CNVD
Squamous cell cancer	19607727	CNVD
Gastric adenocarcinoma	19115996	CNVD
sporadic birth defects	19047251	CNVD
Mental retardation	17124404	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Sudden cardiac death	19188705	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Autism	22543975	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Tetralogy of Fallot	22912587	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	20685689	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:492000-504600	Weak transcription	Aorta	Aorta
2	chr3:499600-504400	Weak transcription	Psoas Muscle	Psoas
3	chr3:500200-504400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:500600-504600	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:501000-504600	Weak transcription	Ovary	ovary
6	chr3:501600-505400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:501800-505400	Weak transcription	Fetal Brain Male	brain
8	chr3:502000-505000	Weak transcription	Brain Germinal Matrix	brain
9	chr3:502000-505400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:502600-505000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:502600-505200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr3:503200-504400	Weak transcription	Fetal Stomach	stomach
13	chr3:503200-504400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr3:503600-504000	Weak transcription	GM12878-XiMat	blood
15	chr3:504000-505400	Enhancers	GM12878-XiMat	blood
16	chr3:504400-505000	Enhancers	Psoas Muscle	Psoas
17	chr3:504400-505200	Enhancers	Colon Smooth Muscle	Colon
18	chr3:504400-505200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr3:504400-505600	Enhancers	Primary B cells from peripheral blood	blood
20	chr3:504400-505600	Enhancers	Fetal Stomach	stomach
21	chr3:504400-506000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:504600-504800	Enhancers	Aorta	Aorta
23	chr3:504600-504800	Enhancers	Ovary	ovary
24	chr3:504600-505600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:504600-506200	Enhancers	Fetal Muscle Leg	muscle
26	chr3:505000-506000	Weak transcription	Psoas Muscle	Psoas
27	chr3:505000-508000	Enhancers	Brain Germinal Matrix	brain
28	chr3:505400-505800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr3:505400-506200	Enhancers	Fetal Brain Male	brain
30	chr3:505400-506200	Flanking Active TSS	GM12878-XiMat	blood
31	chr3:505400-506400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:505600-505800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:506000-506200	Enhancers	Psoas Muscle	Psoas
34	chr3:506200-506400	Enhancers	GM12878-XiMat	blood

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