Variant report

Variant	nsv536577
Chromosome Location	chr3:60095363-60258108
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:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:60216976..60218581-chr3:60221614..60223794,2	K562	blood:
2	chr3:60251080..60254500-chr3:60254648..60256843,3	K562	blood:
3	chr3:60238823..60240958-chr3:60247675..60249888,2	K562	blood:
4	chr3:60183906..60185619-chr3:60186648..60189161,2	K562	blood:
5	chr3:60250531..60257484-chr3:60260695..60265801,11	K562	blood:
6	chr3:60120417..60123350-chr3:60125419..60128034,2	K562	blood:
7	chr3:60227860..60230033-chr3:60233057..60236236,5	K562	blood:
8	chr3:60227860..60230033-chr3:60233057..60236236,5	K562	blood:
9	chr3:60183906..60185619-chr3:60186648..60189161,2	K562	blood:
10	chr3:60233213..60236039-chr3:60237445..60240033,2	K562	blood:
11	chr3:60256070..60258308-chr3:60290805..60292864,2	K562	blood:
12	chr3:60234763..60239313-chr3:60259101..60264028,5	K562	blood:
13	chr3:60248856..60251161-chr3:60252178..60254260,3	K562	blood:
14	chr3:60120417..60123350-chr3:60125419..60128034,2	K562	blood:
15	chr3:60238823..60240958-chr3:60247675..60249888,2	K562	blood:
16	chr3:60251900..60257769-chr3:60262692..60266340,5	K562	blood:
17	chr3:60165952..60167759-chr3:60170117..60173099,2	K562	blood:
18	chr3:60101310..60104205-chr3:60104357..60107292,2	K562	blood:
19	chr3:60092867..60094612-chr3:60094796..60097247,2	K562	blood:
20	chr3:60200174..60203052-chr3:60295659..60297420,2	K562	blood:
21	chr3:60201561..60203293-chr3:60258409..60260445,2	K562	blood:
22	chr3:60169452..60171383-chr3:60172881..60175585,3	K562	blood:
23	chr3:60243402..60246307-chr3:60248980..60251582,2	K562	blood:
24	chr3:60248856..60251161-chr3:60252178..60254260,3	K562	blood:
25	chr3:60253037..60257484-chr3:60258010..60262494,9	K562	blood:
26	chr3:60187999..60188742-chr3:60417102..60417817,2	MCF-7	breast:
27	chr3:60232635..60234409-chr3:60265559..60267834,2	K562	blood:
28	chr3:60222812..60224764-chr3:60226709..60229125,2	K562	blood:
29	chr3:60101310..60104205-chr3:60104357..60107292,2	K562	blood:
30	chr3:60251080..60254500-chr3:60254648..60256843,3	K562	blood:
31	chr3:60248856..60251063-chr3:60252178..60253698,2	K562	blood:
32	chr3:60255084..60257458-chr3:60258706..60260675,3	K562	blood:
33	chr3:60248856..60251063-chr3:60252178..60253698,2	K562	blood:
34	chr3:60165952..60167759-chr3:60170117..60173099,2	K562	blood:
35	chr3:59988215..59988997-chr3:60152321..60153153,2	MCF-7	breast:
36	chr3:60253037..60257484-chr3:60258010..60262494,9	K562	blood:
37	chr3:60216976..60218581-chr3:60221614..60223794,2	K562	blood:
38	chr3:60169452..60171383-chr3:60172881..60175585,3	K562	blood:
39	chr3:60222812..60224764-chr3:60226709..60229125,2	K562	blood:
40	chr3:60233213..60236039-chr3:60237445..60240033,2	K562	blood:
41	chr3:60244130..60245681-chr3:60258765..60261150,2	K562	blood:
42	chr3:60244807..60248517-chr3:60249578..60252504,4	K562	blood:
43	chr3:60244807..60248517-chr3:60249578..60252504,4	K562	blood:
44	chr3:60243402..60246307-chr3:60248980..60251582,2	K562	blood:

No data

Extended variants
information (count: 7328 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:7328 , 50 per page) page: 1 2 3 4 5 6 7 ... 147

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531843355	chr3:60095370-60095371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536864359	chr3:60098403-60098404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548821514	chr3:60098421-60098422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3887229	chr3:60098433-60098434	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs74860035	chr3:60098441-60098442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534712724	chr3:60098457-60098458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79076279	chr3:60098468-60098469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6794136	chr3:60098501-60098502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538616732	chr3:60098540-60098541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557004905	chr3:60098562-60098563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575517991	chr3:60098565-60098566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145326203	chr3:60098566-60098567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560756515	chr3:60098589-60098590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572652529	chr3:60098598-60098599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201947855	chr3:60098599-60098600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201043990	chr3:60098603-60098604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540372189	chr3:60098610-60098611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565369074	chr3:60098626-60098627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532434990	chr3:60098705-60098706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116834488	chr3:60098722-60098723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75130326	chr3:60098725-60098726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530427283	chr3:60098748-60098749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs734291	chr3:60100207-60100208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201628026	chr3:60100215-60100216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs760318	chr3:60100216-60100217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77032612	chr3:60100241-60100242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368530494	chr3:60100272-60100273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527281881	chr3:60100276-60100277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192630447	chr3:60100286-60100287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376787038	chr3:60100290-60100291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570634323	chr3:60100316-60100317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142798985	chr3:60100327-60100328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7630991	chr3:60100332-60100333	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs201223379	chr3:60100356-60100357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185427548	chr3:60100359-60100360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190331150	chr3:60100404-60100405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6446111	chr3:60100426-60100427	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs572443375	chr3:60100468-60100469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6446112	chr3:60100482-60100483	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs558449538	chr3:60100525-60100526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6801035	chr3:60100531-60100532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112760528	chr3:60100545-60100546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs67221972	chr3:60100560-60100561	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs543674628	chr3:60100562-60100563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561953733	chr3:60100571-60100572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6801047	chr3:60100572-60100573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541566473	chr3:60100604-60100605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559978579	chr3:60100611-60100612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72882706	chr3:60100635-60100636	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs139634362	chr3:60100649-60100650	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Glioblastoma multiforme	21569311	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Cancer	20164919	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60091200-60095400	Weak transcription	Primary T cells from cord blood	blood
2	chr3:60098400-60098800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:60100200-60100800	Enhancers	Brain Substantia Nigra	brain
4	chr3:60105400-60106200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr3:60105400-60106400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:60105600-60106000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:60105600-60106000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:60105600-60106000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:60105600-60106200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:60105600-60106400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr3:60105800-60106200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:60105800-60106400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:60107600-60107800	Enhancers	Brain Substantia Nigra	brain
14	chr3:60107800-60109200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:60107800-60109200	Enhancers	Fetal Kidney	kidney
16	chr3:60107800-60110600	Weak transcription	Brain Substantia Nigra	brain
17	chr3:60108000-60108400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr3:60109200-60119000	Weak transcription	Psoas Muscle	Psoas
19	chr3:60110600-60112800	Enhancers	Brain Substantia Nigra	brain
20	chr3:60110800-60112200	Enhancers	Brain Cingulate Gyrus	brain
21	chr3:60111400-60112600	Enhancers	Brain Anterior Caudate	brain
22	chr3:60111600-60112200	Enhancers	Brain Hippocampus Middle	brain
23	chr3:60112200-60112600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:60117400-60118200	Enhancers	Left Ventricle	heart
25	chr3:60117600-60118200	Enhancers	Fetal Lung	lung
26	chr3:60117800-60120000	Enhancers	Fetal Heart	heart
27	chr3:60118200-60118600	Weak transcription	Left Ventricle	heart
28	chr3:60118200-60119200	Weak transcription	Fetal Lung	lung
29	chr3:60118600-60119400	Enhancers	Left Ventricle	heart
30	chr3:60118800-60119200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:60118800-60119400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:60118800-60119400	Enhancers	Aorta	Aorta
33	chr3:60118800-60120000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:60118800-60120000	Enhancers	NHEK	skin
35	chr3:60119000-60119400	Enhancers	Fetal Stomach	stomach
36	chr3:60119000-60119400	Enhancers	Psoas Muscle	Psoas
37	chr3:60119000-60119400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr3:60119000-60119400	Enhancers	Spleen	Spleen
39	chr3:60119000-60120000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr3:60119000-60120000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:60119000-60120000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr3:60119000-60120400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:60119000-60120600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:60119000-60120800	Enhancers	Adipose Nuclei	Adipose
45	chr3:60119200-60119400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr3:60119200-60120400	Enhancers	Fetal Lung	lung
47	chr3:60119400-60119600	Enhancers	Brain Germinal Matrix	brain
48	chr3:60119400-60123400	Weak transcription	Psoas Muscle	Psoas
49	chr3:60119600-60120400	Enhancers	Primary hematopoietic stem cells	blood
50	chr3:60120400-60126000	Weak transcription	Fetal Lung	lung

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