Variant report

Variant	nsv876845
Chromosome Location	chr3:60256485-60367607
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:78)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:78 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:60269337..60271765-chr3:60281168..60285461,3	K562	blood:
2	chr3:60269337..60271765-chr3:60281168..60285461,3	K562	blood:
3	chr3:60253037..60257484-chr3:60258010..60262494,9	K562	blood:
4	chr3:60258656..60260421-chr3:60265938..60268428,2	K562	blood:
5	chr3:60266321..60268572-chr3:60276329..60278580,2	K562	blood:
6	chr3:60259790..60262070-chr3:60293546..60295461,2	K562	blood:
7	chr3:60328233..60329786-chr3:60331827..60333380,2	K562	blood:
8	chr3:60261204..60265514-chr3:60273828..60277768,4	K562	blood:
9	chr3:60284006..60286419-chr3:60293595..60296204,2	K562	blood:
10	chr3:60314052..60317809-chr3:60320135..60322733,3	K562	blood:
11	chr3:60328233..60329786-chr3:60331827..60333380,2	K562	blood:
12	chr3:60295573..60297345-chr3:60298835..60300684,2	K562	blood:
13	chr3:60261650..60264808-chr3:60273372..60278082,5	K562	blood:
14	chr3:60358149..60359978-chr3:60360609..60362627,2	K562	blood:
15	chr3:60289477..60292078-chr3:60293552..60296063,2	K562	blood:
16	chr3:60250531..60257484-chr3:60260695..60265801,11	K562	blood:
17	chr3:60329453..60332321-chr3:60334364..60336807,3	K562	blood:
18	chr3:60353725..60356090-chr3:60357671..60359254,2	K562	blood:
19	chr3:60265834..60270132-chr3:60272142..60277781,4	K562	blood:
20	chr3:60271832..60274094-chr3:60278099..60280290,3	K562	blood:
21	chr3:60258656..60260421-chr3:60265938..60268428,2	K562	blood:
22	chr3:60259045..60261438-chr3:60261640..60264472,4	K562	blood:
23	chr3:60335312..60337513-chr3:60384353..60386284,2	K562	blood:
24	chr3:60244130..60245681-chr3:60258765..60261150,2	K562	blood:
25	chr3:60328076..60331780-chr3:60331782..60336627,6	K562	blood:
26	chr3:60313043..60315701-chr3:60317704..60319934,2	K562	blood:
27	chr3:60200174..60203052-chr3:60295659..60297420,2	K562	blood:
28	chr3:60313578..60315701-chr3:60317704..60319323,2	K562	blood:
29	chr3:60258674..60261438-chr3:60261466..60264109,5	K562	blood:
30	chr3:60285656..60288735-chr3:60288891..60292381,4	K562	blood:
31	chr3:60313578..60315701-chr3:60317704..60319323,2	K562	blood:
32	chr3:60353725..60356090-chr3:60357671..60359254,2	K562	blood:
33	chr3:60358149..60359978-chr3:60360609..60362627,2	K562	blood:
34	chr3:60259790..60262070-chr3:60293546..60295461,2	K562	blood:
35	chr3:60264136..60267761-chr3:60268146..60273300,4	K562	blood:
36	chr3:60324490..60326267-chr3:60328981..60330722,2	K562	blood:
37	chr3:60234763..60239313-chr3:60259101..60264028,5	K562	blood:
38	chr3:60261204..60265514-chr3:60273828..60277768,4	K562	blood:
39	chr3:60251900..60257769-chr3:60262692..60266340,5	K562	blood:
40	chr3:60320744..60322657-chr3:60325498..60327603,2	K562	blood:
41	chr3:60285656..60288735-chr3:60288891..60292381,4	K562	blood:
42	chr3:60284006..60286419-chr3:60293595..60296204,2	K562	blood:
43	chr3:60264136..60267761-chr3:60268146..60273300,4	K562	blood:
44	chr3:60251080..60254500-chr3:60254648..60256843,3	K562	blood:
45	chr3:60258674..60261438-chr3:60261466..60264109,5	K562	blood:
46	chr3:60261650..60264808-chr3:60273372..60278082,5	K562	blood:
47	chr3:60251900..60257769-chr3:60262692..60266340,5	K562	blood:
48	chr3:60260694..60264724-chr3:60264748..60271403,12	K562	blood:
49	chr3:60232635..60234409-chr3:60265559..60267834,2	K562	blood:
50	chr3:60255084..60257458-chr3:60258706..60260675,3	K562	blood:

No data

Extended variants
information (count: 4378 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:4378 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs213339	chr3:60256485-60256486	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192336401	chr3:60256495-60256496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528368196	chr3:60256496-60256497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371425321	chr3:60256514-60256515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77127316	chr3:60256541-60256542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550929752	chr3:60256546-60256547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368230737	chr3:60256564-60256565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536713983	chr3:60256565-60256566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542062707	chr3:60256583-60256584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372057705	chr3:60256587-60256588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150578669	chr3:60256608-60256609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139579098	chr3:60256614-60256615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534810576	chr3:60256655-60256656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553246776	chr3:60256660-60256661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184495207	chr3:60256693-60256694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143348894	chr3:60256714-60256715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146222740	chr3:60256715-60256716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575148198	chr3:60256799-60256800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542268813	chr3:60256852-60256853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs213340	chr3:60256857-60256858	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs543741165	chr3:60256863-60256864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113143050	chr3:60256868-60256869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540410836	chr3:60256874-60256875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565363909	chr3:60256879-60256880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532809495	chr3:60256883-60256884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551004133	chr3:60256886-60256887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569188169	chr3:60256889-60256890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139180594	chr3:60256897-60256898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555618979	chr3:60256898-60256899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11130761	chr3:60256907-60256908	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs534325905	chr3:60256949-60256950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553183598	chr3:60256970-60256971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144009215	chr3:60256982-60256983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181077238	chr3:60256998-60256999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556984491	chr3:60257028-60257029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575542088	chr3:60257038-60257039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144890493	chr3:60257087-60257088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542206160	chr3:60257088-60257089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12330818	chr3:60257143-60257144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572580506	chr3:60257154-60257155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541382663	chr3:60257156-60257157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142979169	chr3:60257167-60257168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2132608	chr3:60257178-60257179	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs533513778	chr3:60257209-60257210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545161855	chr3:60257214-60257215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs62238538	chr3:60257251-60257252	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs563038893	chr3:60257280-60257281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530460335	chr3:60257299-60257300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374314364	chr3:60257322-60257323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs151107032	chr3:60257346-60257347	Weak transcription 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
Acute lymphoblastic leukemia	19100363	CNVD
Cancer	20164919	CNVD
Schizophrenia	20967226	CNVD
Glioma	20126413	CNVD

Chromatin state (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60254200-60263800	Weak transcription	Aorta	Aorta
2	chr3:60256200-60257400	Enhancers	K562	blood
3	chr3:60257400-60258600	Genic enhancers	K562	blood
4	chr3:60258600-60259800	Weak transcription	K562	blood
5	chr3:60259800-60260400	ZNF genes & repeats	K562	blood
6	chr3:60260400-60261400	Weak transcription	K562	blood
7	chr3:60261400-60261600	Flanking Active TSS	K562	blood
8	chr3:60261600-60263400	Active TSS	K562	blood
9	chr3:60262400-60262800	Enhancers	Brain Hippocampus Middle	brain
10	chr3:60262600-60263400	Active TSS	Brain Angular Gyrus	brain
11	chr3:60262600-60263400	Active TSS	Brain Anterior Caudate	brain
12	chr3:60262600-60263400	Active TSS	Brain Substantia Nigra	brain
13	chr3:60262800-60263400	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr3:60262800-60263600	Active TSS	Brain Hippocampus Middle	brain
15	chr3:60263000-60263800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:60263400-60264400	Flanking Active TSS	K562	blood
17	chr3:60263600-60264400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:60263800-60264400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr3:60263800-60268400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:60264400-60264600	Active TSS	K562	blood
21	chr3:60264600-60265800	Weak transcription	K562	blood
22	chr3:60265800-60267400	Enhancers	K562	blood
23	chr3:60268000-60269400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr3:60268600-60268800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:60274200-60277200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr3:60274600-60276200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:60274600-60276600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:60275000-60276600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:60275000-60276600	Enhancers	Fetal Heart	heart
30	chr3:60275200-60275800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:60275200-60276600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:60275200-60276800	Enhancers	Brain Anterior Caudate	brain
33	chr3:60275200-60277000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:60275400-60275800	Enhancers	Fetal Brain Female	brain
35	chr3:60275400-60276400	Enhancers	Aorta	Aorta
36	chr3:60275400-60276600	Enhancers	Brain Angular Gyrus	brain
37	chr3:60275600-60276400	Enhancers	Brain Hippocampus Middle	brain
38	chr3:60275600-60276400	Enhancers	Small Intestine	intestine
39	chr3:60275600-60276600	Enhancers	K562	blood
40	chr3:60275800-60276600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr3:60275800-60277200	Enhancers	Brain Substantia Nigra	brain
42	chr3:60275800-60279800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:60276000-60277000	Enhancers	Brain Cingulate Gyrus	brain
44	chr3:60276200-60276400	Enhancers	Dnd41	blood
45	chr3:60276200-60276600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:60276200-60276800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr3:60276400-60287800	Weak transcription	Aorta	Aorta
48	chr3:60276600-60276800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:60276600-60277800	Weak transcription	Dnd41	blood
50	chr3:60276600-60279000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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