Variant report

Variant	nsv1008585
Chromosome Location	chr3:50936180-50955418
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 574 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:574 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534892646	chr3:50936189-50936190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369754934	chr3:50936243-50936244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540816388	chr3:50936252-50936253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186633301	chr3:50936258-50936259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149076172	chr3:50936273-50936274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535500328	chr3:50936283-50936284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556896834	chr3:50936290-50936291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575338405	chr3:50936291-50936292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539894182	chr3:50936338-50936339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557684609	chr3:50936354-50936355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573020171	chr3:50936356-50936357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577384453	chr3:50936364-50936365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544597384	chr3:50936380-50936381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540050352	chr3:50936392-50936393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374497737	chr3:50936474-50936475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562054677	chr3:50936479-50936480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143142517	chr3:50936480-50936481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199633805	chr3:50936503-50936504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151209464	chr3:50936517-50936518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191527731	chr3:50936541-50936542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533073304	chr3:50936576-50936577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542601659	chr3:50936595-50936596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112843459	chr3:50936603-50936604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560826922	chr3:50936607-50936608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559972562	chr3:50936618-50936619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12485524	chr3:50936687-50936688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs182914146	chr3:50936773-50936774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372806200	chr3:50936822-50936823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546351643	chr3:50936928-50936929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147020800	chr3:50936975-50936976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535704463	chr3:50937006-50937007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188018180	chr3:50937061-50937062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568878947	chr3:50937101-50937102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564660125	chr3:50937167-50937168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539427435	chr3:50937195-50937196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62257814	chr3:50937196-50937197	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs13085320	chr3:50937219-50937220	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs150105468	chr3:50937225-50937226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555551044	chr3:50937309-50937310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574004039	chr3:50937310-50937311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4446201	chr3:50937416-50937417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562754500	chr3:50937433-50937434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191404543	chr3:50937445-50937446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544678258	chr3:50937454-50937455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560236873	chr3:50937468-50937469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527355981	chr3:50937475-50937476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540827148	chr3:50937478-50937479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149602926	chr3:50937494-50937495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536224255	chr3:50937525-50937526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529560917	chr3:50937540-50937541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50931400-50938200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:50936800-50937000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr3:50936800-50937800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:50937000-50938400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr3:50937200-50937400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr3:50937400-50938000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:50937800-50938200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:50938000-50938400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr3:50938000-50939200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr3:50938200-50938400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr3:50938200-50938600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr3:50938200-50938600	Enhancers	Stomach Mucosa	stomach
13	chr3:50938200-50939000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:50938200-50939200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:50938200-50939200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr3:50938200-50939200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:50938200-50939200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:50938200-50939200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr3:50938200-50939200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr3:50938200-50939200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:50938200-50939400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr3:50938200-50939400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:50938200-50939400	Enhancers	Esophagus	oesophagus
24	chr3:50938400-50938600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr3:50938400-50938600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr3:50938400-50939200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr3:50938400-50939200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr3:50938400-50939200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr3:50938400-50939200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:50938600-50938800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr3:50938800-50939000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:50938800-50939000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr3:50938800-50939200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr3:50939000-50939400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr3:50939000-50940000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:50939200-50939400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr3:50940000-50940400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:50942200-50946600	Weak transcription	Fetal Heart	heart
39	chr3:50946600-50947000	Active TSS	Fetal Heart	heart
40	chr3:50947600-50948200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:50947800-50948000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:50947800-50948000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:50948000-50949800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:50948000-50949800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr3:50948200-50949800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:50949800-50950000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr3:50949800-50950200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:50949800-50950400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:50949800-50950400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:50949800-50950600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links