Variant report

Variant	nsv1010969
Chromosome Location	chr3:60124962-60425297
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:121)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:121 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr3:60269337..60271765-chr3:60281168..60285461,3	K562	blood:
2	chr3:60264136..60267761-chr3:60268146..60273300,4	K562	blood:
3	chr3:60251900..60257769-chr3:60262692..60266340,5	K562	blood:
4	chr3:60251080..60254500-chr3:60254648..60256843,3	K562	blood:
5	chr3:60259045..60261438-chr3:60261640..60264472,4	K562	blood:
6	chr3:60253037..60257484-chr3:60258010..60262494,9	K562	blood:
7	chr3:60234763..60239313-chr3:60259101..60264028,5	K562	blood:
8	chr3:60250531..60257484-chr3:60260695..60265801,11	K562	blood:
9	chr3:60243402..60246307-chr3:60248980..60251582,2	K562	blood:
10	chr3:60256070..60258308-chr3:60290805..60292864,2	K562	blood:
11	chr3:60251900..60257769-chr3:60262692..60266340,5	K562	blood:
12	chr3:60364373..60366879-chr3:60368723..60370826,2	K562	blood:
13	chr3:60314052..60317809-chr3:60320135..60322733,3	K562	blood:
14	chr3:60261650..60264808-chr3:60273372..60278082,5	K562	blood:
15	chr3:60259790..60262070-chr3:60293546..60295461,2	K562	blood:
16	chr3:60295573..60297345-chr3:60298835..60300684,2	K562	blood:
17	chr3:60227860..60230033-chr3:60233057..60236236,5	K562	blood:
18	chr3:60282564..60285388-chr3:60286384..60290912,4	K562	blood:
19	chr3:60260056..60262708-chr3:60388625..60391399,2	K562	blood:
20	chr3:60183906..60185619-chr3:60186648..60189161,2	K562	blood:
21	chr3:60282564..60285388-chr3:60286384..60290912,4	K562	blood:
22	chr3:60244130..60245681-chr3:60258765..60261150,2	K562	blood:
23	chr3:60265834..60270132-chr3:60272142..60277781,4	K562	blood:
24	chr3:60364373..60366879-chr3:60368723..60370826,2	K562	blood:
25	chr3:60169452..60171383-chr3:60172881..60175585,3	K562	blood:
26	chr3:60324490..60326267-chr3:60328981..60330722,2	K562	blood:
27	chr3:60260694..60264724-chr3:60264748..60271403,12	K562	blood:
28	chr3:60313578..60315701-chr3:60317704..60319323,2	K562	blood:
29	chr3:60284006..60286419-chr3:60293595..60296204,2	K562	blood:
30	chr3:60260853..60263177-chr3:60264748..60269648,5	K562	blood:
31	chr3:60320744..60322657-chr3:60325498..60327603,2	K562	blood:
32	chr3:60260853..60263177-chr3:60264748..60269648,5	K562	blood:
33	chr3:60295573..60297345-chr3:60298835..60300684,2	K562	blood:
34	chr3:60120417..60123350-chr3:60125419..60128034,2	K562	blood:
35	chr3:60233213..60236039-chr3:60237445..60240033,2	K562	blood:
36	chr3:60200174..60203052-chr3:60295659..60297420,2	K562	blood:
37	chr3:60313043..60315701-chr3:60317704..60319934,2	K562	blood:
38	chr3:60216976..60218581-chr3:60221614..60223794,2	K562	blood:
39	chr3:60271832..60274094-chr3:60278099..60280290,3	K562	blood:
40	chr3:60289477..60292078-chr3:60293552..60296063,2	K562	blood:
41	chr3:60328076..60331780-chr3:60331782..60336627,6	K562	blood:
42	chr3:60183906..60185619-chr3:60186648..60189161,2	K562	blood:
43	chr3:60243402..60246307-chr3:60248980..60251582,2	K562	blood:
44	chr3:60404994..60406496-chr3:60413046..60414548,2	K562	blood:
45	chr3:60260694..60264724-chr3:60264748..60271403,12	K562	blood:
46	chr3:60265834..60270132-chr3:60272142..60277781,4	K562	blood:
47	chr3:60328076..60331780-chr3:60331782..60336627,6	K562	blood:
48	chr3:60165952..60167759-chr3:60170117..60173099,2	K562	blood:
49	chr3:60251080..60254500-chr3:60254648..60256843,3	K562	blood:
50	chr3:59988215..59988997-chr3:60152321..60153153,2	MCF-7	breast:

No data

Extended variants
information (count: 12480 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:12480 , 50 per page) page: 1 2 3 4 5 6 7 ... 250

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376788502	chr3:60124962-60124963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560629318	chr3:60124998-60124999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527968542	chr3:60125004-60125005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147270637	chr3:60125016-60125017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184659595	chr3:60125027-60125028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367977878	chr3:60125041-60125042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538017215	chr3:60125090-60125091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189847221	chr3:60125101-60125102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575626707	chr3:60125109-60125110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372727012	chr3:60125125-60125126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376027909	chr3:60125126-60125127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77006086	chr3:60125128-60125129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377119203	chr3:60125129-60125130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369246619	chr3:60125130-60125131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568889655	chr3:60125140-60125141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535881381	chr3:60125149-60125150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554540458	chr3:60125172-60125173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140764914	chr3:60125173-60125174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7624360	chr3:60125182-60125183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs558822396	chr3:60125183-60125184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536726468	chr3:60125197-60125198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181467631	chr3:60125225-60125226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544366386	chr3:60125230-60125231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77876659	chr3:60125244-60125245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566221115	chr3:60125255-60125256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78549885	chr3:60125291-60125292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574834261	chr3:60125295-60125296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570825412	chr3:60125302-60125303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541897416	chr3:60125305-60125306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7615352	chr3:60125348-60125349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76044636	chr3:60125368-60125369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528003890	chr3:60125383-60125384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150814729	chr3:60125385-60125386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76181783	chr3:60125386-60125387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531794640	chr3:60125396-60125397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61323946	chr3:60125403-60125404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550310596	chr3:60125434-60125435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574721486	chr3:60125452-60125453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139218323	chr3:60125456-60125457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149951663	chr3:60125465-60125466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566460747	chr3:60125473-60125474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533736266	chr3:60125474-60125475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186156282	chr3:60125477-60125478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56977213	chr3:60125498-60125499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570712401	chr3:60125501-60125502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537652747	chr3:60125516-60125517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556312708	chr3:60125544-60125545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10680391	chr3:60125548-60125549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397716997	chr3:60125560-60125561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7626928	chr3:60125570-60125571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

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
Glioma	20126413	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:847 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60120400-60126000	Weak transcription	Fetal Lung	lung
2	chr3:60121400-60127400	Weak transcription	Adipose Nuclei	Adipose
3	chr3:60123400-60141200	Weak transcription	Pancreas	Pancrea
4	chr3:60124800-60145400	Weak transcription	Thymus	Thymus
5	chr3:60126000-60128400	Enhancers	Fetal Lung	lung
6	chr3:60126600-60128200	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr3:60126800-60128000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:60127200-60127800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:60127400-60128000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:60127400-60128000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:60127400-60128000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr3:60127400-60128200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr3:60127400-60128200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:60127400-60128200	Enhancers	Adipose Nuclei	Adipose
15	chr3:60127600-60128000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr3:60127600-60128000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:60127800-60131800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr3:60128000-60131000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:60128000-60131600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr3:60128000-60132000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:60128000-60132000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:60128200-60132200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr3:60128400-60132400	Weak transcription	Psoas Muscle	Psoas
24	chr3:60130600-60131400	Enhancers	Brain Substantia Nigra	brain
25	chr3:60131000-60131600	Enhancers	Brain Angular Gyrus	brain
26	chr3:60131000-60132400	Enhancers	Brain Anterior Caudate	brain
27	chr3:60131000-60133600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:60131000-60133600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr3:60131200-60132000	Enhancers	Brain Cingulate Gyrus	brain
30	chr3:60131200-60133600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr3:60131200-60133800	Enhancers	Brain Hippocampus Middle	brain
32	chr3:60131400-60132200	Weak transcription	Brain Substantia Nigra	brain
33	chr3:60131400-60133200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr3:60131600-60132000	Weak transcription	Brain Angular Gyrus	brain
35	chr3:60131600-60132400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr3:60131600-60133200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr3:60131600-60133400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr3:60131600-60133800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:60131800-60132000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr3:60131800-60132200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:60131800-60132800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:60131800-60133400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:60132000-60132200	Enhancers	Brain Germinal Matrix	brain
44	chr3:60132000-60132400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:60132000-60132400	Active TSS	Brain Cingulate Gyrus	brain
46	chr3:60132000-60132600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:60132000-60132600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:60132000-60132600	Enhancers	Brain Angular Gyrus	brain
49	chr3:60132000-60133400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr3:60132200-60132400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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