Variant report

Variant	nsv1001134
Chromosome Location	chr3:60262617-60344190
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:59)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:59 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:60289477..60292078-chr3:60293552..60296063,2	K562	blood:
2	chr3:60313578..60315701-chr3:60317704..60319323,2	K562	blood:
3	chr3:60328076..60331780-chr3:60331782..60336627,6	K562	blood:
4	chr3:60261204..60265514-chr3:60273828..60277768,4	K562	blood:
5	chr3:60328076..60331780-chr3:60331782..60336627,6	K562	blood:
6	chr3:60302553..60304671-chr3:60309983..60311740,2	K562	blood:
7	chr3:60265834..60270132-chr3:60272142..60277781,4	K562	blood:
8	chr3:60285656..60288735-chr3:60288891..60292381,4	K562	blood:
9	chr3:60259790..60262070-chr3:60293546..60295461,2	K562	blood:
10	chr3:60264136..60267761-chr3:60268146..60273300,4	K562	blood:
11	chr3:60314052..60317809-chr3:60320135..60322733,3	K562	blood:
12	chr3:60313043..60315701-chr3:60317704..60319934,2	K562	blood:
13	chr3:60320744..60322657-chr3:60325498..60327603,2	K562	blood:
14	chr3:60261204..60265514-chr3:60273828..60277768,4	K562	blood:
15	chr3:60265834..60270132-chr3:60272142..60277781,4	K562	blood:
16	chr3:60260694..60264724-chr3:60264748..60271403,12	K562	blood:
17	chr3:60200174..60203052-chr3:60295659..60297420,2	K562	blood:
18	chr3:60260056..60262708-chr3:60388625..60391399,2	K562	blood:
19	chr3:60260853..60263177-chr3:60264748..60269648,5	K562	blood:
20	chr3:60269337..60271765-chr3:60281168..60285461,3	K562	blood:
21	chr3:60295573..60297345-chr3:60298835..60300684,2	K562	blood:
22	chr3:60258674..60261438-chr3:60261466..60264109,5	K562	blood:
23	chr3:60320744..60322657-chr3:60325498..60327603,2	K562	blood:
24	chr3:60234763..60239313-chr3:60259101..60264028,5	K562	blood:
25	chr3:60261650..60264808-chr3:60273372..60278082,5	K562	blood:
26	chr3:60266321..60268572-chr3:60276329..60278580,2	K562	blood:
27	chr3:60295573..60297345-chr3:60298835..60300684,2	K562	blood:
28	chr3:60251900..60257769-chr3:60262692..60266340,5	K562	blood:
29	chr3:60264136..60267761-chr3:60268146..60273300,4	K562	blood:
30	chr3:60269337..60271765-chr3:60281168..60285461,3	K562	blood:
31	chr3:60329453..60332321-chr3:60334364..60336807,3	K562	blood:
32	chr3:60232635..60234409-chr3:60265559..60267834,2	K562	blood:
33	chr3:60302553..60304671-chr3:60309983..60311740,2	K562	blood:
34	chr3:60260853..60263177-chr3:60264748..60269648,5	K562	blood:
35	chr3:60263321..60265309-chr3:60503721..60505576,2	K562	blood:
36	chr3:60324490..60326267-chr3:60328981..60330722,2	K562	blood:
37	chr3:60250531..60257484-chr3:60260695..60265801,11	K562	blood:
38	chr3:60335312..60337513-chr3:60384353..60386284,2	K562	blood:
39	chr3:60266321..60268572-chr3:60276329..60278580,2	K562	blood:
40	chr3:60285656..60288735-chr3:60288891..60292381,4	K562	blood:
41	chr3:60328233..60329786-chr3:60331827..60333380,2	K562	blood:
42	chr3:60259045..60261438-chr3:60261640..60264472,4	K562	blood:
43	chr3:60258656..60260421-chr3:60265938..60268428,2	K562	blood:
44	chr3:60289477..60292078-chr3:60293552..60296063,2	K562	blood:
45	chr3:60313578..60315701-chr3:60317704..60319323,2	K562	blood:
46	chr3:60324490..60326267-chr3:60328981..60330722,2	K562	blood:
47	chr3:60256070..60258308-chr3:60290805..60292864,2	K562	blood:
48	chr3:60271832..60274094-chr3:60278099..60280290,3	K562	blood:
49	chr3:60282564..60285388-chr3:60286384..60290912,4	K562	blood:
50	chr3:60284006..60286419-chr3:60293595..60296204,2	K562	blood:

No data

Extended variants
information (count: 3524 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:3524 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs213352	chr3:60262617-60262618	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147948031	chr3:60262622-60262623	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544875019	chr3:60262626-60262627	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs193000333	chr3:60262698-60262699	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374956039	chr3:60262715-60262716	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575249535	chr3:60262728-60262729	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542229561	chr3:60262742-60262743	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75331333	chr3:60262761-60262762	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34262673	chr3:60262793-60262794	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17399247	chr3:60262800-60262801	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs114692621	chr3:60262801-60262802	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs213353	chr3:60262842-60262843	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs532170884	chr3:60262917-60262918	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs12636197	chr3:60262943-60262944	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs368715750	chr3:60262944-60262945	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs568794813	chr3:60262981-60262982	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs75185459	chr3:60263000-60263001	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs529962329	chr3:60263011-60263012	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs183635325	chr3:60263027-60263028	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs188028913	chr3:60263075-60263076	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs566476974	chr3:60263115-60263116	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs533609309	chr3:60263163-60263164	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs535713885	chr3:60263240-60263241	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs111678555	chr3:60263251-60263252	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs538434480	chr3:60263267-60263268	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs556832721	chr3:60263303-60263304	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs575164250	chr3:60263322-60263323	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs541546247	chr3:60263324-60263325	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs372108227	chr3:60263376-60263377	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs542562373	chr3:60263377-60263378	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs192825832	chr3:60263378-60263379	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs140108321	chr3:60263379-60263380	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs532146196	chr3:60263403-60263404	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs545923267	chr3:60263410-60263411	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs34244389	chr3:60263411-60263412	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs531724828	chr3:60263428-60263429	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs555547586	chr3:60263431-60263432	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs529901483	chr3:60263438-60263439	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs569061460	chr3:60263439-60263440	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs566300184	chr3:60263455-60263456	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs555965819	chr3:60263468-60263469	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs139798728	chr3:60263482-60263483	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs527277503	chr3:60263486-60263487	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs184436308	chr3:60263532-60263533	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs148900202	chr3:60263533-60263534	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs73835239	chr3:60263537-60263538	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs537967926	chr3:60263582-60263583	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs2173055	chr3:60263620-60263621	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs113364027	chr3:60263637-60263638	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs568687243	chr3:60263649-60263650	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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

Chromatin state (count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60254200-60263800	Weak transcription	Aorta	Aorta
2	chr3:60261600-60263400	Active TSS	K562	blood
3	chr3:60262400-60262800	Enhancers	Brain Hippocampus Middle	brain
4	chr3:60262600-60263400	Active TSS	Brain Angular Gyrus	brain
5	chr3:60262600-60263400	Active TSS	Brain Anterior Caudate	brain
6	chr3:60262600-60263400	Active TSS	Brain Substantia Nigra	brain
7	chr3:60262800-60263400	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr3:60262800-60263600	Active TSS	Brain Hippocampus Middle	brain
9	chr3:60263000-60263800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:60263400-60264400	Flanking Active TSS	K562	blood
11	chr3:60263600-60264400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:60263800-60264400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr3:60263800-60268400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:60264400-60264600	Active TSS	K562	blood
15	chr3:60264600-60265800	Weak transcription	K562	blood
16	chr3:60265800-60267400	Enhancers	K562	blood
17	chr3:60268000-60269400	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr3:60268600-60268800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:60274200-60277200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr3:60274600-60276200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:60274600-60276600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:60275000-60276600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:60275000-60276600	Enhancers	Fetal Heart	heart
24	chr3:60275200-60275800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:60275200-60276600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:60275200-60276800	Enhancers	Brain Anterior Caudate	brain
27	chr3:60275200-60277000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:60275400-60275800	Enhancers	Fetal Brain Female	brain
29	chr3:60275400-60276400	Enhancers	Aorta	Aorta
30	chr3:60275400-60276600	Enhancers	Brain Angular Gyrus	brain
31	chr3:60275600-60276400	Enhancers	Brain Hippocampus Middle	brain
32	chr3:60275600-60276400	Enhancers	Small Intestine	intestine
33	chr3:60275600-60276600	Enhancers	K562	blood
34	chr3:60275800-60276600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:60275800-60277200	Enhancers	Brain Substantia Nigra	brain
36	chr3:60275800-60279800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:60276000-60277000	Enhancers	Brain Cingulate Gyrus	brain
38	chr3:60276200-60276400	Enhancers	Dnd41	blood
39	chr3:60276200-60276600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:60276200-60276800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:60276400-60287800	Weak transcription	Aorta	Aorta
42	chr3:60276600-60276800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:60276600-60277800	Weak transcription	Dnd41	blood
44	chr3:60276600-60279000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:60276600-60279200	Weak transcription	K562	blood
46	chr3:60276600-60279600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:60276800-60279600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:60277800-60281600	Enhancers	Dnd41	blood
49	chr3:60279000-60281400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:60279200-60280600	Enhancers	K562	blood

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