Variant report

Variant	nsv1014601
Chromosome Location	chr3:59666609-59888166
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:59560988..59561827-chr3:59795202..59795948,3	MCF-7	breast:
2	chr3:59810076..59812679-chr3:59815097..59816735,2	K562	blood:
3	chr3:59692251..59693930-chr3:59694566..59696970,2	K562	blood:
4	chr3:59561232..59561846-chr3:59795242..59795895,3	MCF-7	breast:
5	chr3:59593056..59594000-chr3:59795106..59795983,2	MCF-7	breast:
6	chr3:59560813..59561442-chr3:59843559..59844061,2	MCF-7	breast:
7	chr3:59804428..59805355-chr7:5013730..5014289,2	HCT-116	colon:
8	chr3:59560849..59562291-chr3:59843175..59844082,5	MCF-7	breast:
9	chr3:59736699..59738413-chr3:59739398..59742016,2	K562	blood:
10	chr3:59593238..59594045-chr3:59842694..59843779,3	MCF-7	breast:
11	chr3:59692251..59693930-chr3:59694566..59696970,2	K562	blood:
12	chr3:59810076..59812679-chr3:59815097..59816735,2	K562	blood:
13	chr3:59736699..59738413-chr3:59739398..59742016,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCTD6-8	chr3:59846047-59846080	NONHSAT090156
2	lnc-KCTD6-8	chr3:59846693-59846897	NONHSAT090156

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	FHIT	hsa-miR-217	chr3:59737257-59737279
2	FHIT	hsa-miR-217	chr3:59736043-59736065
3	FHIT	hsa-miR-217	chr3:59735200-59735223
4	FHIT	hsa-miR-143-3p	chr3:59735189-59735210

Variant related genes	Relation type
ENSG00000196204	chromatin interactions

Extended variants
information (count: 9824 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:9824 , 50 per page) page: 1 2 3 4 5 6 7 ... 197

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1281469	chr3:59666609-59666610	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs142412021	chr3:59666627-59666628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72882847	chr3:59666629-59666630	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs371212553	chr3:59666668-59666669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539729387	chr3:59666734-59666735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548751291	chr3:59666738-59666739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576533166	chr3:59666743-59666744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537252846	chr3:59666766-59666767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555801333	chr3:59666772-59666773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574187381	chr3:59666778-59666779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145942763	chr3:59666805-59666806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183954418	chr3:59666830-59666831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553606968	chr3:59666837-59666838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571818365	chr3:59666854-59666855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148609648	chr3:59666902-59666903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572038113	chr3:59666946-59666947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143000173	chr3:59666956-59666957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116306443	chr3:59666961-59666962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115884973	chr3:59666969-59666970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113728799	chr3:59666983-59666984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186863422	chr3:59666991-59666992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62249680	chr3:59667020-59667021	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs73092416	chr3:59667062-59667063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11925087	chr3:59667093-59667094	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs200136113	chr3:59667135-59667136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190758267	chr3:59667142-59667143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565900925	chr3:59667169-59667170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530542354	chr3:59667208-59667209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144838241	chr3:59667238-59667239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527950228	chr3:59667244-59667245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147922601	chr3:59667245-59667246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570337034	chr3:59667264-59667265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141648476	chr3:59667286-59667287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1666072	chr3:59667313-59667314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs73092419	chr3:59667385-59667386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs535165274	chr3:59667404-59667405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553849945	chr3:59667406-59667407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182629597	chr3:59667414-59667415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545789650	chr3:59667425-59667426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73092421	chr3:59667443-59667444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576397000	chr3:59667482-59667483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543787276	chr3:59667514-59667515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191785367	chr3:59667534-59667535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561843568	chr3:59667565-59667566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372722238	chr3:59667568-59667569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145406110	chr3:59667590-59667591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76549361	chr3:59667603-59667604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1374857	chr3:59667639-59667640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs145215672	chr3:59667666-59667667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77387227	chr3:59667732-59667733	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1829 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59663200-59667200	Enhancers	Fetal Muscle Leg	muscle
2	chr3:59666600-59667000	Enhancers	Esophagus	oesophagus
3	chr3:59666600-59667000	Enhancers	Fetal Muscle Trunk	muscle
4	chr3:59666800-59667000	Enhancers	Fetal Brain Female	brain
5	chr3:59667000-59667400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:59667200-59668200	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:59668200-59668600	Enhancers	Fetal Muscle Leg	muscle
8	chr3:59668600-59689400	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:59670000-59676200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:59670400-59671600	Enhancers	Fetal Heart	heart
11	chr3:59671200-59671600	Enhancers	Right Atrium	heart
12	chr3:59674000-59675400	Enhancers	Fetal Lung	lung
13	chr3:59674200-59674600	Enhancers	Fetal Brain Female	brain
14	chr3:59674200-59674800	Enhancers	Fetal Stomach	stomach
15	chr3:59676000-59676200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr3:59676400-59677400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr3:59677400-59679200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr3:59677600-59678000	Enhancers	Primary B cells from peripheral blood	blood
19	chr3:59677600-59678000	Enhancers	Spleen	Spleen
20	chr3:59677600-59678600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr3:59677800-59678600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr3:59677800-59678600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr3:59678800-59679200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:59683800-59684800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr3:59684800-59685000	Weak transcription	Fetal Heart	heart
26	chr3:59685000-59686400	Enhancers	Fetal Heart	heart
27	chr3:59686400-59695200	Weak transcription	Fetal Heart	heart
28	chr3:59689000-59690200	Enhancers	Fetal Lung	lung
29	chr3:59689400-59690600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:59689400-59692600	Enhancers	Fetal Muscle Leg	muscle
31	chr3:59689600-59691200	Weak transcription	Fetal Brain Male	brain
32	chr3:59690000-59690400	Enhancers	HSMMtube	muscle
33	chr3:59691200-59691400	Enhancers	Fetal Brain Male	brain
34	chr3:59691400-59695800	Weak transcription	Fetal Brain Male	brain
35	chr3:59691600-59692200	Enhancers	Primary T cells from cord blood	blood
36	chr3:59692000-59692200	Enhancers	Thymus	Thymus
37	chr3:59692200-59692400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr3:59692200-59695000	Weak transcription	Primary T cells from cord blood	blood
39	chr3:59692200-59695600	Weak transcription	Thymus	Thymus
40	chr3:59692400-59697000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr3:59692600-59694200	Weak transcription	Fetal Muscle Leg	muscle
42	chr3:59694200-59694400	Enhancers	Fetal Muscle Leg	muscle
43	chr3:59694200-59695200	Enhancers	Dnd41	blood
44	chr3:59694600-59695400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:59694800-59695400	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr3:59694800-59696400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr3:59694800-59696400	Enhancers	Fetal Thymus	thymus
48	chr3:59694800-59696600	Enhancers	Primary hematopoietic stem cells	blood
49	chr3:59694800-59697200	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr3:59695000-59695600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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