Variant report

Variant	nsv590413
Chromosome Location	chr3:61124257-61128132
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	chr3:61125383..61126228-chr3:61279414..61279942,2	MCF-7	breast:
2	chr3:61125268..61126228-chr3:61279400..61279942,3	MCF-7	breast:

Extended variants
information (count: 145 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11130818	chr3:61124257-61124258	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113472348	chr3:61124271-61124272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146267789	chr3:61124283-61124284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534733768	chr3:61124296-61124297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552967807	chr3:61124297-61124298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79355808	chr3:61124327-61124328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11720347	chr3:61124333-61124334	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs369355507	chr3:61124344-61124345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539352085	chr3:61124351-61124352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557894750	chr3:61124360-61124361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543632297	chr3:61124380-61124381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575580520	chr3:61124384-61124385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576198134	chr3:61124466-61124467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186591390	chr3:61124471-61124472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191141648	chr3:61124541-61124542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573564459	chr3:61124546-61124547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144202313	chr3:61124579-61124580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559413378	chr3:61124634-61124635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568004053	chr3:61124644-61124645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533616513	chr3:61124670-61124671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545722102	chr3:61124686-61124687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117289093	chr3:61124697-61124698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368329092	chr3:61124703-61124704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs397874669	chr3:61124720-61124721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372617269	chr3:61124721-61124722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9883535	chr3:61124724-61124725	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs375974124	chr3:61124766-61124767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567621880	chr3:61124822-61124823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528588444	chr3:61124834-61124835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1967348	chr3:61124848-61124849	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs182295654	chr3:61124879-61124880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539339933	chr3:61124892-61124893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530405997	chr3:61124948-61124949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557815616	chr3:61124954-61124955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555926525	chr3:61125003-61125004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569812492	chr3:61125040-61125041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186611102	chr3:61125044-61125045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199838757	chr3:61125102-61125103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376198955	chr3:61125149-61125150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565247397	chr3:61125207-61125208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149803803	chr3:61125211-61125212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145794474	chr3:61125242-61125243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199579174	chr3:61125251-61125252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs59911261	chr3:61125252-61125253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368207326	chr3:61125253-61125254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148976407	chr3:61125263-61125264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191146847	chr3:61125279-61125280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78931185	chr3:61125332-61125333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577750904	chr3:61125354-61125355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545711499	chr3:61125367-61125368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	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
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61107800-61128000	Weak transcription	Primary T cells from cord blood	blood
2	chr3:61122400-61125400	Weak transcription	Psoas Muscle	Psoas
3	chr3:61123200-61124400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr3:61123400-61125000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr3:61124000-61124400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:61124200-61125400	Enhancers	Fetal Lung	lung
7	chr3:61124400-61126200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:61124400-61126200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:61125000-61125200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:61125000-61126600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:61125000-61126600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:61125000-61126800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr3:61125200-61126200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:61125400-61126600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:61125400-61126600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:61126200-61127200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr3:61126200-61127200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr3:61126200-61128200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:61126200-61128200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:61126200-61129200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:61126400-61126600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr3:61126600-61126800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:61126600-61126800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr3:61126600-61127000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr3:61126600-61127000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:61126600-61127000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:61126600-61127200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:61126600-61127600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr3:61126600-61127600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr3:61126600-61127600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr3:61126800-61127000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr3:61126800-61127200	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr3:61126800-61127600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:61126800-61127800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:61126800-61127800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:61126800-61128200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr3:61126800-61128200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:61127000-61127200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr3:61127000-61127200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr3:61127000-61127800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr3:61127200-61127400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr3:61127200-61127600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
43	chr3:61127200-61127600	Active TSS	H9 Cell Line	embryonic stem cell
44	chr3:61127200-61127600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr3:61127200-61127600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr3:61127200-61127800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:61127400-61127600	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr3:61127600-61128200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr3:61127600-61128200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr3:61127600-61128400	Enhancers	H1 Cell Line	embryonic stem cell

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