Variant report

Variant	nsv3718
Chromosome Location	chr3:19520852-19565669
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:19525585..19527422-chr3:19576707..19579689,2	MCF-7	breast:

Extended variants
information (count: 1982 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1982 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367785544	chr3:19520937-19520938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376216448	chr3:19520954-19520955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528095927	chr3:19520975-19520976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545224735	chr3:19520986-19520987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142260321	chr3:19521025-19521026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs193228043	chr3:19521027-19521028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542942446	chr3:19521034-19521035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369218226	chr3:19521079-19521080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561004628	chr3:19521125-19521126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531753573	chr3:19521130-19521131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549732533	chr3:19521171-19521172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs151241328	chr3:19521173-19521174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184985133	chr3:19521204-19521205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547484842	chr3:19521230-19521231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188041436	chr3:19521254-19521255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191341599	chr3:19521261-19521262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183964330	chr3:19521312-19521313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79863204	chr3:19521320-19521321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140402568	chr3:19521322-19521323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556147139	chr3:19521333-19521334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530609200	chr3:19521349-19521350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77655087	chr3:19521366-19521367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538777925	chr3:19521381-19521382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373350984	chr3:19521470-19521471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570634901	chr3:19521473-19521474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555970953	chr3:19521475-19521476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189812378	chr3:19521478-19521479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542429703	chr3:19521528-19521529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561251813	chr3:19521637-19521638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575893387	chr3:19521638-19521639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149947627	chr3:19521680-19521681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114410568	chr3:19521702-19521703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532364617	chr3:19521706-19521707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368161644	chr3:19521709-19521710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559573595	chr3:19521712-19521713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181316344	chr3:19521725-19521726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548450195	chr3:19521794-19521795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570329322	chr3:19521803-19521804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547094729	chr3:19521812-19521813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531276416	chr3:19521889-19521890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377505525	chr3:19521982-19521983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571297300	chr3:19522015-19522016	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs185090281	chr3:19522047-19522048	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs190072132	chr3:19522060-19522061	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs181771492	chr3:19522061-19522062	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs186196569	chr3:19522081-19522082	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs189423771	chr3:19522084-19522085	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs370681982	chr3:19522087-19522088	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs535888474	chr3:19522127-19522128	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs536457493	chr3:19522151-19522152	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	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
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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19513000-19532400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:19514600-19530200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:19516400-19521800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:19518000-19522000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:19518000-19523200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:19518000-19531600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:19518200-19535400	Weak transcription	Primary B cells from cord blood	blood
8	chr3:19518600-19521400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:19518600-19521800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:19518800-19522000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:19518800-19523000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:19519200-19521000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:19521000-19522600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:19521400-19522600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr3:19521600-19521800	Enhancers	Brain Angular Gyrus	brain
16	chr3:19521600-19522000	Enhancers	Brain Substantia Nigra	brain
17	chr3:19521800-19522200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:19521800-19522400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:19522000-19522200	Active TSS	Primary hematopoietic stem cells	blood
20	chr3:19522000-19522400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr3:19522000-19523000	Weak transcription	Brain Substantia Nigra	brain
22	chr3:19522600-19525200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:19523000-19523800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:19523200-19523400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:19523800-19535000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:19525200-19525800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:19526000-19526200	Enhancers	Lung	lung
28	chr3:19527000-19527200	Enhancers	Lung	lung
29	chr3:19527600-19528000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr3:19529400-19530400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:19530200-19530600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr3:19530200-19530800	Enhancers	Primary B cells from peripheral blood	blood
33	chr3:19530800-19538200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr3:19531600-19531800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:19531600-19531800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:19535000-19535800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:19535400-19535800	ZNF genes & repeats	Primary B cells from cord blood	blood
38	chr3:19535800-19538800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:19537400-19537800	Weak transcription	Primary B cells from cord blood	blood
40	chr3:19538200-19538600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr3:19538200-19539000	Enhancers	Primary B cells from peripheral blood	blood
42	chr3:19538400-19538800	Enhancers	Primary B cells from cord blood	blood
43	chr3:19538800-19539000	Weak transcription	Primary B cells from cord blood	blood
44	chr3:19538800-19540000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:19539000-19540200	ZNF genes & repeats	Primary B cells from cord blood	blood
46	chr3:19540200-19557200	Weak transcription	Primary B cells from cord blood	blood
47	chr3:19542200-19552800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:19547600-19548600	Enhancers	Primary B cells from peripheral blood	blood
49	chr3:19547600-19548600	Enhancers	GM12878-XiMat	blood
50	chr3:19548000-19549200	Enhancers	Brain Inferior Temporal Lobe	brain

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