Variant report

Variant	esv2422232
Chromosome Location	chr3:60192201-60334555
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:96)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:96 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:60313578..60315701-chr3:60317704..60319323,2	K562	blood:
2	chr3:60251080..60254500-chr3:60254648..60256843,3	K562	blood:
3	chr3:60216976..60218581-chr3:60221614..60223794,2	K562	blood:
4	chr3:60265834..60270132-chr3:60272142..60277781,4	K562	blood:
5	chr3:60248856..60251161-chr3:60252178..60254260,3	K562	blood:
6	chr3:60258674..60261438-chr3:60261466..60264109,5	K562	blood:
7	chr3:60324490..60326267-chr3:60328981..60330722,2	K562	blood:
8	chr3:60253037..60257484-chr3:60258010..60262494,9	K562	blood:
9	chr3:60258656..60260421-chr3:60265938..60268428,2	K562	blood:
10	chr3:60233213..60236039-chr3:60237445..60240033,2	K562	blood:
11	chr3:60302553..60304671-chr3:60309983..60311740,2	K562	blood:
12	chr3:60250531..60257484-chr3:60260695..60265801,11	K562	blood:
13	chr3:60238823..60240958-chr3:60247675..60249888,2	K562	blood:
14	chr3:60255084..60257458-chr3:60258706..60260675,3	K562	blood:
15	chr3:60271832..60274094-chr3:60278099..60280290,3	K562	blood:
16	chr3:60314052..60317809-chr3:60320135..60322733,3	K562	blood:
17	chr3:60284006..60286419-chr3:60293595..60296204,2	K562	blood:
18	chr3:60261204..60265514-chr3:60273828..60277768,4	K562	blood:
19	chr3:60244807..60248517-chr3:60249578..60252504,4	K562	blood:
20	chr3:60250531..60257484-chr3:60260695..60265801,11	K562	blood:
21	chr3:60248856..60251063-chr3:60252178..60253698,2	K562	blood:
22	chr3:60264136..60267761-chr3:60268146..60273300,4	K562	blood:
23	chr3:60285656..60288735-chr3:60288891..60292381,4	K562	blood:
24	chr3:60251900..60257769-chr3:60262692..60266340,5	K562	blood:
25	chr3:60269337..60271765-chr3:60281168..60285461,3	K562	blood:
26	chr3:60222812..60224764-chr3:60226709..60229125,2	K562	blood:
27	chr3:60285656..60288735-chr3:60288891..60292381,4	K562	blood:
28	chr3:60238823..60240958-chr3:60247675..60249888,2	K562	blood:
29	chr3:60244807..60248517-chr3:60249578..60252504,4	K562	blood:
30	chr3:60329453..60332321-chr3:60334364..60336807,3	K562	blood:
31	chr3:60328076..60331780-chr3:60331782..60336627,6	K562	blood:
32	chr3:60216976..60218581-chr3:60221614..60223794,2	K562	blood:
33	chr3:60234763..60239313-chr3:60259101..60264028,5	K562	blood:
34	chr3:60261204..60265514-chr3:60273828..60277768,4	K562	blood:
35	chr3:60256070..60258308-chr3:60290805..60292864,2	K562	blood:
36	chr3:60260853..60263177-chr3:60264748..60269648,5	K562	blood:
37	chr3:60253037..60257484-chr3:60258010..60262494,9	K562	blood:
38	chr3:60243402..60246307-chr3:60248980..60251582,2	K562	blood:
39	chr3:60295573..60297345-chr3:60298835..60300684,2	K562	blood:
40	chr3:60328233..60329786-chr3:60331827..60333380,2	K562	blood:
41	chr3:60259045..60261438-chr3:60261640..60264472,4	K562	blood:
42	chr3:60260694..60264724-chr3:60264748..60271403,12	K562	blood:
43	chr3:60302553..60304671-chr3:60309983..60311740,2	K562	blood:
44	chr3:60266321..60268572-chr3:60276329..60278580,2	K562	blood:
45	chr3:60234763..60239313-chr3:60259101..60264028,5	K562	blood:
46	chr3:60320744..60322657-chr3:60325498..60327603,2	K562	blood:
47	chr3:60200174..60203052-chr3:60295659..60297420,2	K562	blood:
48	chr3:60251900..60257769-chr3:60262692..60266340,5	K562	blood:
49	chr3:60313043..60315701-chr3:60317704..60319934,2	K562	blood:
50	chr3:60271832..60274094-chr3:60278099..60280290,3	K562	blood:

No data

Extended variants
information (count: 6521 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:6521 , 50 per page) page: 1 2 3 4 5 6 7 ... 131

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186153	chr3:60192208-60192209	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113955559	chr3:60192209-60192210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533836296	chr3:60192256-60192257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367998558	chr3:60192258-60192259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371634916	chr3:60192285-60192286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17062460	chr3:60192323-60192324	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs17062463	chr3:60192325-60192326	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs113246134	chr3:60192328-60192329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563874309	chr3:60192329-60192330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144357754	chr3:60192339-60192340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374878405	chr3:60192344-60192345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542239090	chr3:60192356-60192357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs213315	chr3:60192395-60192396	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs572362029	chr3:60192397-60192398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546088359	chr3:60192400-60192401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35781602	chr3:60192413-60192414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564408880	chr3:60192418-60192419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115709126	chr3:60192452-60192453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536505140	chr3:60192465-60192466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543593523	chr3:60192490-60192491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34922025	chr3:60192496-60192497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs60528708	chr3:60192497-60192498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397962663	chr3:60192509-60192510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562628987	chr3:60192516-60192517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529749097	chr3:60192550-60192551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548208404	chr3:60192617-60192618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566354104	chr3:60192649-60192650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs213316	chr3:60192651-60192652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs551191570	chr3:60192715-60192716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199738696	chr3:60192716-60192717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs213317	chr3:60192723-60192724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs374900909	chr3:60192771-60192772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145255389	chr3:60192772-60192773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556373263	chr3:60192774-60192775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558647574	chr3:60192777-60192778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9834515	chr3:60192831-60192832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs148735578	chr3:60192852-60192853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144972526	chr3:60192897-60192898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368749836	chr3:60192898-60192899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79256622	chr3:60192914-60192915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183670677	chr3:60192921-60192922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572368399	chr3:60192929-60192930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188046726	chr3:60192945-60192946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182143014	chr3:60192948-60192949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558062490	chr3:60192954-60192955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185535389	chr3:60193057-60193058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543654407	chr3:60193058-60193059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376765711	chr3:60193077-60193078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562132820	chr3:60193118-60193119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142285720	chr3:60193136-60193137	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
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	21248843	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Cancer	20164919	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:474 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60182400-60195000	Weak transcription	Aorta	Aorta
2	chr3:60192000-60192600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr3:60193200-60194200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr3:60193400-60193800	Enhancers	Fetal Heart	heart
5	chr3:60193800-60202000	Weak transcription	Fetal Heart	heart
6	chr3:60194000-60200200	Weak transcription	Fetal Kidney	kidney
7	chr3:60195000-60195200	Enhancers	Aorta	Aorta
8	chr3:60197400-60197800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr3:60199000-60199400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr3:60199200-60200800	Enhancers	Fetal Lung	lung
11	chr3:60199400-60203200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:60200200-60200400	ZNF genes & repeats	Fetal Kidney	kidney
13	chr3:60200400-60203400	Weak transcription	Fetal Kidney	kidney
14	chr3:60200800-60201600	Weak transcription	Fetal Lung	lung
15	chr3:60201600-60202000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr3:60201600-60203400	Enhancers	Fetal Lung	lung
17	chr3:60201800-60202800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:60201800-60202800	Enhancers	Fetal Stomach	stomach
19	chr3:60201800-60203600	Enhancers	K562	blood
20	chr3:60202000-60202400	Enhancers	Fetal Heart	heart
21	chr3:60202000-60203200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:60202200-60202800	Enhancers	Brain Angular Gyrus	brain
23	chr3:60202200-60204800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:60202400-60203600	Enhancers	NHDF-Ad	bronchial
25	chr3:60203000-60203400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr3:60203200-60203600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr3:60203200-60203600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr3:60203200-60203600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:60203400-60203600	Enhancers	Fetal Kidney	kidney
30	chr3:60203600-60211400	Weak transcription	K562	blood
31	chr3:60206600-60207200	Enhancers	Brain Germinal Matrix	brain
32	chr3:60211400-60211800	Enhancers	Primary B cells from peripheral blood	blood
33	chr3:60211400-60212000	Enhancers	K562	blood
34	chr3:60211400-60212800	Enhancers	Primary B cells from cord blood	blood
35	chr3:60212400-60212800	Enhancers	Fetal Kidney	kidney
36	chr3:60212400-60213400	Enhancers	Dnd41	blood
37	chr3:60213400-60213600	Enhancers	GM12878-XiMat	blood
38	chr3:60213400-60214200	Enhancers	Fetal Heart	heart
39	chr3:60213600-60214400	Weak transcription	GM12878-XiMat	blood
40	chr3:60214400-60215400	Enhancers	GM12878-XiMat	blood
41	chr3:60214600-60215000	Enhancers	Right Ventricle	heart
42	chr3:60214600-60215200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:60221200-60222200	Enhancers	Dnd41	blood
44	chr3:60222200-60224000	Weak transcription	Dnd41	blood
45	chr3:60224000-60225200	Enhancers	Dnd41	blood
46	chr3:60224200-60224600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr3:60224200-60224800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:60224200-60224800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:60225200-60226200	Weak transcription	Dnd41	blood
50	chr3:60225600-60227000	Enhancers	Pancreatic Islets	Pancreatic Islet

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