Variant report

Variant	nsv590393
Chromosome Location	chr3:60217330-60276722
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:61)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:60251900..60257769-chr3:60262692..60266340,5	K562	blood:
2	chr3:60243402..60246307-chr3:60248980..60251582,2	K562	blood:
3	chr3:60244130..60245681-chr3:60258765..60261150,2	K562	blood:
4	chr3:60222812..60224764-chr3:60226709..60229125,2	K562	blood:
5	chr3:60263321..60265309-chr3:60503721..60505576,2	K562	blood:
6	chr3:60260056..60262708-chr3:60388625..60391399,2	K562	blood:
7	chr3:60251080..60254500-chr3:60254648..60256843,3	K562	blood:
8	chr3:60261204..60265514-chr3:60273828..60277768,4	K562	blood:
9	chr3:60260694..60264724-chr3:60264748..60271403,12	K562	blood:
10	chr3:60216976..60218581-chr3:60221614..60223794,2	K562	blood:
11	chr3:60234763..60239313-chr3:60259101..60264028,5	K562	blood:
12	chr3:60261650..60264808-chr3:60273372..60278082,5	K562	blood:
13	chr3:60260694..60264724-chr3:60264748..60271403,12	K562	blood:
14	chr3:60222812..60224764-chr3:60226709..60229125,2	K562	blood:
15	chr3:60227860..60230033-chr3:60233057..60236236,5	K562	blood:
16	chr3:60233213..60236039-chr3:60237445..60240033,2	K562	blood:
17	chr3:60244807..60248517-chr3:60249578..60252504,4	K562	blood:
18	chr3:60258674..60261438-chr3:60261466..60264109,5	K562	blood:
19	chr3:60253037..60257484-chr3:60258010..60262494,9	K562	blood:
20	chr3:60266321..60268572-chr3:60276329..60278580,2	K562	blood:
21	chr3:60201561..60203293-chr3:60258409..60260445,2	K562	blood:
22	chr3:60234763..60239313-chr3:60259101..60264028,5	K562	blood:
23	chr3:60248856..60251063-chr3:60252178..60253698,2	K562	blood:
24	chr3:60244807..60248517-chr3:60249578..60252504,4	K562	blood:
25	chr3:60265834..60270132-chr3:60272142..60277781,4	K562	blood:
26	chr3:60259790..60262070-chr3:60293546..60295461,2	K562	blood:
27	chr3:60243402..60246307-chr3:60248980..60251582,2	K562	blood:
28	chr3:60260853..60263177-chr3:60264748..60269648,5	K562	blood:
29	chr3:60266321..60268572-chr3:60276329..60278580,2	K562	blood:
30	chr3:60269337..60271765-chr3:60281168..60285461,3	K562	blood:
31	chr3:60232635..60234409-chr3:60265559..60267834,2	K562	blood:
32	chr3:60248856..60251161-chr3:60252178..60254260,3	K562	blood:
33	chr3:60227860..60230033-chr3:60233057..60236236,5	K562	blood:
34	chr3:60251080..60254500-chr3:60254648..60256843,3	K562	blood:
35	chr3:60238823..60240958-chr3:60247675..60249888,2	K562	blood:
36	chr3:60258656..60260421-chr3:60265938..60268428,2	K562	blood:
37	chr3:60261650..60264808-chr3:60273372..60278082,5	K562	blood:
38	chr3:60238823..60240958-chr3:60247675..60249888,2	K562	blood:
39	chr3:60248856..60251161-chr3:60252178..60254260,3	K562	blood:
40	chr3:60258674..60261438-chr3:60261466..60264109,5	K562	blood:
41	chr3:60259045..60261438-chr3:60261640..60264472,4	K562	blood:
42	chr3:60244130..60245681-chr3:60258765..60261150,2	K562	blood:
43	chr3:60248856..60251063-chr3:60252178..60253698,2	K562	blood:
44	chr3:60256070..60258308-chr3:60290805..60292864,2	K562	blood:
45	chr3:60255084..60257458-chr3:60258706..60260675,3	K562	blood:
46	chr3:60216976..60218581-chr3:60221614..60223794,2	K562	blood:
47	chr3:60260853..60263177-chr3:60264748..60269648,5	K562	blood:
48	chr3:60264136..60267761-chr3:60268146..60273300,4	K562	blood:
49	chr3:60250531..60257484-chr3:60260695..60265801,11	K562	blood:
50	chr3:60271832..60274094-chr3:60278099..60280290,3	K562	blood:

No data

Extended variants
information (count: 2520 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:2520 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184730127	chr3:60221243-60221244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554897063	chr3:60221276-60221277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573124271	chr3:60221299-60221300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116279701	chr3:60221320-60221321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565050542	chr3:60221326-60221327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570024970	chr3:60221334-60221335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370651042	chr3:60221336-60221337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77027938	chr3:60221346-60221347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544670683	chr3:60221359-60221360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112179157	chr3:60221365-60221366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114170227	chr3:60221398-60221399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530026783	chr3:60221407-60221408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13096724	chr3:60221445-60221446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144584477	chr3:60221450-60221451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541877437	chr3:60221477-60221478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527943106	chr3:60221495-60221496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552510851	chr3:60221512-60221513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10510834	chr3:60221516-60221517	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs147855758	chr3:60221537-60221538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550637483	chr3:60221547-60221548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141413951	chr3:60221564-60221565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536253866	chr3:60221572-60221573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145267364	chr3:60221625-60221626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189546611	chr3:60221629-60221630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150983253	chr3:60221634-60221635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567556872	chr3:60221639-60221640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs60739535	chr3:60221651-60221652	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs576951336	chr3:60221655-60221656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377418226	chr3:60221658-60221659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552243289	chr3:60221661-60221662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544418402	chr3:60221681-60221682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376074105	chr3:60221694-60221695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562639532	chr3:60221703-60221704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17397398	chr3:60221728-60221729	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs541828593	chr3:60221758-60221759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183571400	chr3:60221768-60221769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527997221	chr3:60221776-60221777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189378243	chr3:60221806-60221807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561796177	chr3:60221812-60221813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181788761	chr3:60221814-60221815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564561021	chr3:60221816-60221817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140805073	chr3:60221823-60221824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553297863	chr3:60221886-60221887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9311754	chr3:60221953-60221954	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568979518	chr3:60221959-60221960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114960774	chr3:60221980-60221981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150116718	chr3:60221986-60221987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75080311	chr3:60222004-60222005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553649655	chr3:60222021-60222022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs13082004	chr3:60222035-60222036	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60221200-60222200	Enhancers	Dnd41	blood
2	chr3:60222200-60224000	Weak transcription	Dnd41	blood
3	chr3:60224000-60225200	Enhancers	Dnd41	blood
4	chr3:60224200-60224600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr3:60224200-60224800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:60224200-60224800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:60225200-60226200	Weak transcription	Dnd41	blood
8	chr3:60225600-60227000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr3:60225600-60227600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:60225800-60227600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:60225800-60227600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:60226000-60226400	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr3:60226000-60226400	Enhancers	HepG2	liver
14	chr3:60226000-60226600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr3:60226000-60226800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:60226000-60226800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr3:60226000-60227000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:60226000-60227000	Enhancers	Fetal Intestine Large	intestine
19	chr3:60226000-60227400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr3:60226000-60227600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr3:60226200-60226600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:60226200-60226600	Enhancers	Brain Germinal Matrix	brain
23	chr3:60226200-60226800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:60226200-60226800	Enhancers	Liver	Liver
25	chr3:60226200-60226800	Enhancers	Fetal Intestine Small	intestine
26	chr3:60226200-60227000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:60226200-60227400	Enhancers	Dnd41	blood
28	chr3:60226400-60226600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr3:60226800-60229200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:60227000-60228600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:60227200-60227400	Enhancers	K562	blood
32	chr3:60227400-60228000	Weak transcription	K562	blood
33	chr3:60227400-60235800	Weak transcription	Dnd41	blood
34	chr3:60228000-60229000	Enhancers	K562	blood
35	chr3:60228600-60229000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:60229000-60229200	Flanking Active TSS	K562	blood
37	chr3:60229200-60229400	Enhancers	K562	blood
38	chr3:60229400-60229600	Flanking Active TSS	K562	blood
39	chr3:60229600-60230400	Enhancers	K562	blood
40	chr3:60230400-60232600	Weak transcription	K562	blood
41	chr3:60232600-60237800	Enhancers	K562	blood
42	chr3:60235600-60236600	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr3:60235800-60237200	Enhancers	Dnd41	blood
44	chr3:60237200-60242200	Weak transcription	Dnd41	blood
45	chr3:60237800-60241200	Weak transcription	K562	blood
46	chr3:60241200-60242400	Enhancers	K562	blood
47	chr3:60242000-60242800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr3:60242200-60243400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr3:60242200-60248600	Enhancers	Dnd41	blood
50	chr3:60242400-60242800	Enhancers	Primary B cells from cord blood	blood

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