Variant report

Variant	nsv590400
Chromosome Location	chr3:60405004-60447369
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 1546 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1546 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553556123	chr3:60406606-60406607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs578123872	chr3:60406613-60406614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545646825	chr3:60406626-60406627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557240152	chr3:60406668-60406669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575193899	chr3:60406710-60406711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192283500	chr3:60406733-60406734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372143250	chr3:60406737-60406738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397874462	chr3:60406764-60406765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555561980	chr3:60406780-60406781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528614633	chr3:60406805-60406806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531566650	chr3:60406846-60406847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540393239	chr3:60406850-60406851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559465420	chr3:60406861-60406862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35561334	chr3:60406880-60406881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185693837	chr3:60406889-60406890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551657151	chr3:60406896-60406897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190269576	chr3:60406963-60406964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148715686	chr3:60406977-60406978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530511700	chr3:60407016-60407017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561854125	chr3:60407019-60407020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529137493	chr3:60407021-60407022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144793447	chr3:60407030-60407031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567225615	chr3:60407076-60407077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547084176	chr3:60407079-60407080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193169588	chr3:60407109-60407110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558856658	chr3:60407115-60407116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571770543	chr3:60407116-60407117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143058316	chr3:60407132-60407133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557228048	chr3:60407134-60407135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs61367627	chr3:60407157-60407158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542596512	chr3:60407182-60407183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146166250	chr3:60407347-60407348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573172371	chr3:60407363-60407364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540682972	chr3:60407437-60407438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565239103	chr3:60407457-60407458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577767031	chr3:60407466-60407467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545265813	chr3:60407507-60407508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184458260	chr3:60407560-60407561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530857147	chr3:60407569-60407570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139081009	chr3:60407594-60407595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560903237	chr3:60407605-60407606	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373544802	chr3:60407614-60407615	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377303131	chr3:60407615-60407616	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528082968	chr3:60407640-60407641	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575620114	chr3:60407664-60407665	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539042308	chr3:60407667-60407668	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370910752	chr3:60407691-60407692	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146445483	chr3:60407728-60407729	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34927902	chr3:60407761-60407762	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538838414	chr3:60407771-60407772	Flanking Active TSS Enhancers	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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60406600-60407600	Enhancers	Liver	Liver
2	chr3:60407600-60408000	Flanking Active TSS	Liver	Liver
3	chr3:60407600-60408200	Enhancers	Gastric	stomach
4	chr3:60407800-60408200	Enhancers	Small Intestine	intestine
5	chr3:60407800-60410600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:60408000-60408600	Enhancers	Liver	Liver
7	chr3:60408600-60413800	Weak transcription	Liver	Liver
8	chr3:60410600-60411000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr3:60410800-60411000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr3:60410800-60411000	Enhancers	K562	blood
11	chr3:60411000-60416400	Weak transcription	K562	blood
12	chr3:60411600-60411800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr3:60413800-60414200	Enhancers	Liver	Liver
14	chr3:60415000-60417600	Enhancers	Primary T cells from cord blood	blood
15	chr3:60415200-60415400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr3:60415200-60415800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr3:60415200-60415800	Enhancers	Psoas Muscle	Psoas
18	chr3:60415200-60416000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr3:60415200-60417200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr3:60415200-60417800	Enhancers	Fetal Thymus	thymus
21	chr3:60415600-60416600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr3:60415600-60416800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr3:60415600-60417600	Enhancers	Thymus	Thymus
24	chr3:60415800-60416800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr3:60416400-60417600	Enhancers	Fetal Heart	heart
26	chr3:60416400-60417800	Enhancers	K562	blood
27	chr3:60416600-60417000	Enhancers	Primary T cells fromperipheralblood	blood
28	chr3:60417400-60417600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr3:60419600-60420200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr3:60419600-60420400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr3:60420200-60420600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:60420200-60421200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:60420400-60430600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:60420600-60421000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr3:60420600-60421000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr3:60420600-60421200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:60420600-60421200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:60420800-60421200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:60425400-60426000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr3:60425400-60426000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr3:60425400-60426000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:60425600-60426000	Enhancers	H9 Cell Line	embryonic stem cell
43	chr3:60426400-60427000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr3:60426600-60427200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr3:60430600-60430800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:60430600-60431000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:60430600-60431800	Enhancers	NHEK	skin
48	chr3:60430800-60431000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr3:60430800-60431200	Enhancers	Placenta Amnion	Placenta Amnion
50	chr3:60430800-60431400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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