Variant report

Variant	nsv590401
Chromosome Location	chr3:60418362-60465139
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	chr3:60418409..60420748-chr3:60421749..60423425,2	MCF-7	breast:
3	chr3:60435518..60437406-chr3:60439396..60441037,2	K562	blood:
4	chr3:60435518..60437406-chr3:60439396..60441037,2	K562	blood:

Extended variants
information (count: 1649 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1649 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143456607	chr3:60419614-60419615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568988947	chr3:60419622-60419623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529887205	chr3:60419627-60419628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548072124	chr3:60419665-60419666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566455822	chr3:60419666-60419667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533854930	chr3:60419667-60419668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115534058	chr3:60419681-60419682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570359739	chr3:60419714-60419715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145851566	chr3:60419717-60419718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74319501	chr3:60419727-60419728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575076627	chr3:60419736-60419737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534038122	chr3:60419750-60419751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141241010	chr3:60419756-60419757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150774142	chr3:60419761-60419762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187227028	chr3:60419765-60419766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546195722	chr3:60419784-60419785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377255790	chr3:60419809-60419810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117231859	chr3:60419820-60419821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543896672	chr3:60419828-60419829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139175215	chr3:60419841-60419842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79108518	chr3:60419855-60419856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149535968	chr3:60419896-60419897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79096395	chr3:60419915-60419916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs578144220	chr3:60419941-60419942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527537898	chr3:60419948-60419949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552191451	chr3:60419983-60419984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570424072	chr3:60419999-60420000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115036043	chr3:60420020-60420021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537827225	chr3:60420040-60420041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556021100	chr3:60420047-60420048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549830582	chr3:60420055-60420056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568190555	chr3:60420073-60420074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9815504	chr3:60420118-60420119	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs191598765	chr3:60420131-60420132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75349049	chr3:60420168-60420169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572688006	chr3:60420181-60420182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540080648	chr3:60420190-60420191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558216461	chr3:60420204-60420205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576377733	chr3:60420277-60420278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536730759	chr3:60420293-60420294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543488418	chr3:60420319-60420320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561765905	chr3:60420354-60420355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573761460	chr3:60420390-60420391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183562495	chr3:60420398-60420399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs409484	chr3:60420417-60420418	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs454914	chr3:60420420-60420421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116462455	chr3:60420435-60420436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540568954	chr3:60420446-60420447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187459424	chr3:60420480-60420481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552437848	chr3:60420515-60420516	Weak transcription Enhancers	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60419600-60420200	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr3:60419600-60420400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:60420200-60420600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:60420200-60421200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:60420400-60430600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:60420600-60421000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:60420600-60421000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:60420600-60421200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:60420600-60421200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:60420800-60421200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:60425400-60426000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:60425400-60426000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:60425400-60426000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:60425600-60426000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr3:60426400-60427000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr3:60426600-60427200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr3:60430600-60430800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:60430600-60431000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:60430600-60431800	Enhancers	NHEK	skin
20	chr3:60430800-60431000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr3:60430800-60431200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr3:60430800-60431400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:60430800-60431400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:60430800-60431600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:60430800-60432200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr3:60431000-60431400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:60431000-60431800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:60431000-60434800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:60431400-60431600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:60432000-60432400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:60434200-60435000	Enhancers	Fetal Stomach	stomach
32	chr3:60434200-60435000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr3:60434800-60435200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr3:60434800-60435200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr3:60439000-60439400	Enhancers	Fetal Intestine Large	intestine
36	chr3:60441800-60442400	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr3:60442000-60442400	Enhancers	Primary T cells from cord blood	blood
38	chr3:60446400-60448000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:60446600-60447600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:60446800-60447600	Enhancers	Adipose Nuclei	Adipose
41	chr3:60447200-60447800	Enhancers	Fetal Muscle Leg	muscle
42	chr3:60448400-60448600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr3:60448400-60448800	Enhancers	Pancreas	Pancrea
44	chr3:60449200-60449600	Enhancers	Fetal Intestine Large	intestine
45	chr3:60449200-60450000	Enhancers	Duodenum Mucosa	Duodenum
46	chr3:60449200-60450000	Enhancers	Fetal Intestine Small	intestine
47	chr3:60449200-60450000	Enhancers	Stomach Mucosa	stomach
48	chr3:60454600-60455400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr3:60454600-60455400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr3:60454800-60455400	Enhancers	HUES48 Cell Line	embryonic stem cell

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