Variant report

Variant	nsv876852
Chromosome Location	chr3:60399322-60458838
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:60418409..60420748-chr3:60421749..60423425,2	MCF-7	breast:
2	chr3:60187999..60188742-chr3:60417102..60417817,2	MCF-7	breast:
3	chr3:60435518..60437406-chr3:60439396..60441037,2	K562	blood:
4	chr3:60418409..60420748-chr3:60421749..60423425,2	MCF-7	breast:
5	chr3:60404994..60406496-chr3:60413046..60414548,2	K562	blood:
6	chr3:60404994..60406496-chr3:60413046..60414548,2	K562	blood:
7	chr3:60435518..60437406-chr3:60439396..60441037,2	K562	blood:

Extended variants
information (count: 2099 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:2099 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12489848	chr3:60399322-60399323	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550688564	chr3:60399342-60399343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs5849359	chr3:60399384-60399385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200217192	chr3:60399385-60399386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578001813	chr3:60399386-60399387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188301788	chr3:60399401-60399402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368791956	chr3:60399403-60399404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74358734	chr3:60399405-60399406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs199670754	chr3:60399407-60399408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574366115	chr3:60399457-60399458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541689812	chr3:60399472-60399473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560028036	chr3:60399480-60399481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113353085	chr3:60399487-60399488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6791776	chr3:60399497-60399498	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs533128891	chr3:60399504-60399505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564205037	chr3:60399531-60399532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531345422	chr3:60399561-60399562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145886847	chr3:60399571-60399572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1380465	chr3:60399599-60399600	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs192963220	chr3:60399600-60399601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72876846	chr3:60399613-60399614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184735937	chr3:60399624-60399625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566381332	chr3:60399685-60399686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149028342	chr3:60399722-60399723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs67430163	chr3:60399785-60399786	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs36101680	chr3:60399793-60399794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570122429	chr3:60399799-60399800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2611410	chr3:60399848-60399849	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs544206361	chr3:60399849-60399850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376254364	chr3:60399878-60399879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555849974	chr3:60399931-60399932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567876487	chr3:60399975-60399976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535275145	chr3:60399989-60399990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553603390	chr3:60400007-60400008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73094294	chr3:60400034-60400035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs180707521	chr3:60400038-60400039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557501138	chr3:60400059-60400060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576010873	chr3:60400065-60400066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74819100	chr3:60400070-60400071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561758972	chr3:60400075-60400076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574415195	chr3:60400085-60400086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184935466	chr3:60400096-60400097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541694772	chr3:60400109-60400110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11715925	chr3:60400158-60400159	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs189366483	chr3:60400272-60400273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567443603	chr3:60400287-60400288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530405100	chr3:60400340-60400341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181659914	chr3:60400341-60400342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142075438	chr3:60400373-60400374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146686369	chr3:60400374-60400375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Cancer	18162546	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
Schizophrenia	23813976	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Schizophrenia	20967226	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Gastric cancer	22315472	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60385000-60399800	Weak transcription	K562	blood
2	chr3:60397400-60400000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:60398000-60403400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:60399000-60400200	Enhancers	Fetal Lung	lung
5	chr3:60399800-60400200	Enhancers	K562	blood
6	chr3:60400200-60403000	Weak transcription	Fetal Lung	lung
7	chr3:60403200-60403400	Enhancers	Fetal Lung	lung
8	chr3:60403400-60403600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:60404800-60405000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:60406600-60407600	Enhancers	Liver	Liver
11	chr3:60407600-60408000	Flanking Active TSS	Liver	Liver
12	chr3:60407600-60408200	Enhancers	Gastric	stomach
13	chr3:60407800-60408200	Enhancers	Small Intestine	intestine
14	chr3:60407800-60410600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:60408000-60408600	Enhancers	Liver	Liver
16	chr3:60408600-60413800	Weak transcription	Liver	Liver
17	chr3:60410600-60411000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr3:60410800-60411000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr3:60410800-60411000	Enhancers	K562	blood
20	chr3:60411000-60416400	Weak transcription	K562	blood
21	chr3:60411600-60411800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr3:60413800-60414200	Enhancers	Liver	Liver
23	chr3:60415000-60417600	Enhancers	Primary T cells from cord blood	blood
24	chr3:60415200-60415400	Enhancers	Primary T cells fromperipheralblood	blood
25	chr3:60415200-60415800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr3:60415200-60415800	Enhancers	Psoas Muscle	Psoas
27	chr3:60415200-60416000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr3:60415200-60417200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr3:60415200-60417800	Enhancers	Fetal Thymus	thymus
30	chr3:60415600-60416600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr3:60415600-60416800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr3:60415600-60417600	Enhancers	Thymus	Thymus
33	chr3:60415800-60416800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr3:60416400-60417600	Enhancers	Fetal Heart	heart
35	chr3:60416400-60417800	Enhancers	K562	blood
36	chr3:60416600-60417000	Enhancers	Primary T cells fromperipheralblood	blood
37	chr3:60417400-60417600	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr3:60419600-60420200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr3:60419600-60420400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:60420200-60420600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:60420200-60421200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:60420400-60430600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr3:60420600-60421000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr3:60420600-60421000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr3:60420600-60421200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:60420600-60421200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:60420800-60421200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:60425400-60426000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr3:60425400-60426000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr3:60425400-60426000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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