Variant report

Variant	nsv590411
Chromosome Location	chr3:61122318-61128132
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	chr3:61125268..61126228-chr3:61279400..61279942,3	MCF-7	breast:
2	chr3:61125383..61126228-chr3:61279414..61279942,2	MCF-7	breast:

Extended variants
information (count: 217 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:217 , 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	rs9830950	chr3:61122318-61122319	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs36004430	chr3:61122342-61122343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371143659	chr3:61122359-61122360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147364543	chr3:61122363-61122364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529834347	chr3:61122435-61122436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372865607	chr3:61122441-61122442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559935283	chr3:61122457-61122458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141019288	chr3:61122481-61122482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190303148	chr3:61122509-61122510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545556790	chr3:61122519-61122520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551863902	chr3:61122582-61122583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192852376	chr3:61122589-61122590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139548883	chr3:61122598-61122599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76286571	chr3:61122630-61122631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9831698	chr3:61122632-61122633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs535794440	chr3:61122640-61122641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554360835	chr3:61122662-61122663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377702694	chr3:61122686-61122687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34749460	chr3:61122703-61122704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377648974	chr3:61122734-61122735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570240935	chr3:61122766-61122767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566287114	chr3:61122787-61122788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9855480	chr3:61122804-61122805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs542641436	chr3:61122827-61122828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558329668	chr3:61122828-61122829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184908579	chr3:61122834-61122835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528629031	chr3:61122843-61122844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543832892	chr3:61122905-61122906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74705459	chr3:61122917-61122918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12632702	chr3:61122922-61122923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs67142172	chr3:61122955-61122956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541758804	chr3:61123103-61123104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143991207	chr3:61123146-61123147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571957882	chr3:61123154-61123155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12715564	chr3:61123177-61123178	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs563874888	chr3:61123219-61123220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531325412	chr3:61123247-61123248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547378699	chr3:61123280-61123281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561531236	chr3:61123320-61123321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12715565	chr3:61123402-61123403	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs548151232	chr3:61123403-61123404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189416054	chr3:61123455-61123456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181061056	chr3:61123518-61123519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185292602	chr3:61123554-61123555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373757769	chr3:61123590-61123591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570099816	chr3:61123591-61123592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538753335	chr3:61123619-61123620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555683954	chr3:61123644-61123645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573958670	chr3:61123652-61123653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569206819	chr3:61123694-61123695	Enhancers Weak transcription	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:61 , 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	chr3:61123000-61123400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:61123200-61124400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr3:61123400-61123800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:61123400-61125000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:61123800-61124000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:61124000-61124400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:61124200-61125400	Enhancers	Fetal Lung	lung
10	chr3:61124400-61126200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:61124400-61126200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:61125000-61125200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:61125000-61126600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr3:61125000-61126600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:61125000-61126800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:61125200-61126200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr3:61125400-61126600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:61125400-61126600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr3:61126200-61127200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr3:61126200-61127200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr3:61126200-61128200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:61126200-61128200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:61126200-61129200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr3:61126400-61126600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr3:61126600-61126800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:61126600-61126800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr3:61126600-61127000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr3:61126600-61127000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:61126600-61127000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:61126600-61127200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:61126600-61127600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr3:61126600-61127600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr3:61126600-61127600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr3:61126800-61127000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr3:61126800-61127200	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr3:61126800-61127600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:61126800-61127800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:61126800-61127800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:61126800-61128200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr3:61126800-61128200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr3:61127000-61127200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr3:61127000-61127200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr3:61127000-61127800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:61127200-61127400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr3:61127200-61127600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr3:61127200-61127600	Active TSS	H9 Cell Line	embryonic stem cell
47	chr3:61127200-61127600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr3:61127200-61127600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr3:61127200-61127800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:61127400-61127600	Active TSS	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links