Variant report

Variant	nsv1007745
Chromosome Location	chr3:60414407-60434882
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	chr3:60404994..60406496-chr3:60413046..60414548,2	K562	blood:
4	chr3:60418409..60420748-chr3:60421749..60423425,2	MCF-7	breast:

Extended variants
information (count: 1043 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1043 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17063100	chr3:60414407-60414408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546161242	chr3:60414466-60414467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573059741	chr3:60414467-60414468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562647259	chr3:60414512-60414513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141303394	chr3:60414525-60414526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188601012	chr3:60414541-60414542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560743712	chr3:60414546-60414547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145084362	chr3:60414616-60414617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552921881	chr3:60414639-60414640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs241689	chr3:60414686-60414687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78995444	chr3:60414713-60414714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564436626	chr3:60414737-60414738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370958404	chr3:60414748-60414749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531743888	chr3:60414790-60414791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564637662	chr3:60414808-60414809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192761548	chr3:60414830-60414831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534754842	chr3:60414920-60414921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541974750	chr3:60414924-60414925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373976670	chr3:60414925-60414926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs741753	chr3:60414930-60414931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs75010044	chr3:60414940-60414941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77656486	chr3:60414941-60414942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536044319	chr3:60414960-60414961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140684780	chr3:60414974-60414975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551760655	chr3:60415029-60415030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143809030	chr3:60415048-60415049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148174278	chr3:60415053-60415054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141135393	chr3:60415054-60415055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184883710	chr3:60415067-60415068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150722153	chr3:60415090-60415091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537884850	chr3:60415092-60415093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189347393	chr3:60415093-60415094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574501728	chr3:60415095-60415096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs137966781	chr3:60415198-60415199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560636062	chr3:60415202-60415203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572690065	chr3:60415275-60415276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546474763	chr3:60415317-60415318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143525760	chr3:60415340-60415341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367780446	chr3:60415387-60415388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114866734	chr3:60415395-60415396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76336759	chr3:60415404-60415405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529353818	chr3:60415415-60415416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547493165	chr3:60415449-60415450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566284291	chr3:60415450-60415451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527529292	chr3:60415477-60415478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372180053	chr3:60415511-60415512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570445365	chr3:60415513-60415514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147178261	chr3:60415532-60415533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556093864	chr3:60415563-60415564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184933677	chr3:60415564-60415565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60411000-60416400	Weak transcription	K562	blood
2	chr3:60415000-60417600	Enhancers	Primary T cells from cord blood	blood
3	chr3:60415200-60415400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr3:60415200-60415800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:60415200-60415800	Enhancers	Psoas Muscle	Psoas
6	chr3:60415200-60416000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr3:60415200-60417200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr3:60415200-60417800	Enhancers	Fetal Thymus	thymus
9	chr3:60415600-60416600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr3:60415600-60416800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr3:60415600-60417600	Enhancers	Thymus	Thymus
12	chr3:60415800-60416800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr3:60416400-60417600	Enhancers	Fetal Heart	heart
14	chr3:60416400-60417800	Enhancers	K562	blood
15	chr3:60416600-60417000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr3:60417400-60417600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr3:60419600-60420200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr3:60419600-60420400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:60420200-60420600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:60420200-60421200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:60420400-60430600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:60420600-60421000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:60420600-60421000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr3:60420600-60421200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:60420600-60421200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:60420800-60421200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:60425400-60426000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr3:60425400-60426000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr3:60425400-60426000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:60425600-60426000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr3:60426400-60427000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr3:60426600-60427200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr3:60430600-60430800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:60430600-60431000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:60430600-60431800	Enhancers	NHEK	skin
36	chr3:60430800-60431000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr3:60430800-60431200	Enhancers	Placenta Amnion	Placenta Amnion
38	chr3:60430800-60431400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr3:60430800-60431400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:60430800-60431600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:60430800-60432200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr3:60431000-60431400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:60431000-60431800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:60431000-60434800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr3:60431400-60431600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:60432000-60432400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:60434200-60435000	Enhancers	Fetal Stomach	stomach
48	chr3:60434200-60435000	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr3:60434800-60435200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr3:60434800-60435200	Enhancers	H9 Cell Line	embryonic stem cell

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