Variant report

Variant	nsv1001270
Chromosome Location	chr3:60136017-60218582
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:60183906..60185619-chr3:60186648..60189161,2	K562	blood:
2	chr3:60187999..60188742-chr3:60417102..60417817,2	MCF-7	breast:
3	chr3:60169452..60171383-chr3:60172881..60175585,3	K562	blood:
4	chr3:60165952..60167759-chr3:60170117..60173099,2	K562	blood:
5	chr3:59988215..59988997-chr3:60152321..60153153,2	MCF-7	breast:
6	chr3:60183906..60185619-chr3:60186648..60189161,2	K562	blood:
7	chr3:60201561..60203293-chr3:60258409..60260445,2	K562	blood:
8	chr3:60200174..60203052-chr3:60295659..60297420,2	K562	blood:
9	chr3:60165952..60167759-chr3:60170117..60173099,2	K562	blood:
10	chr3:60216976..60218581-chr3:60221614..60223794,2	K562	blood:
11	chr3:60169452..60171383-chr3:60172881..60175585,3	K562	blood:

No data

Extended variants
information (count: 3879 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:3879 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373316797	chr3:60136020-60136021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537600932	chr3:60136021-60136022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139177023	chr3:60136036-60136037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553859128	chr3:60136040-60136041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141777207	chr3:60136044-60136045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150569412	chr3:60136045-60136046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558403312	chr3:60136076-60136077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576715230	chr3:60136079-60136080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574247606	chr3:60136107-60136108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138822675	chr3:60136125-60136126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556337092	chr3:60136134-60136135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377689761	chr3:60136135-60136136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556607794	chr3:60136146-60136147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62240254	chr3:60136190-60136191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs541835209	chr3:60136194-60136195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142772724	chr3:60136196-60136197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185487378	chr3:60136265-60136266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553316718	chr3:60136284-60136285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs80122920	chr3:60136308-60136309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563992034	chr3:60136319-60136320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113050733	chr3:60136377-60136378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13094560	chr3:60136401-60136402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs568261853	chr3:60136425-60136426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529354829	chr3:60136444-60136445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115210865	chr3:60136494-60136495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565964402	chr3:60136515-60136516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539775191	chr3:60136536-60136537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373941794	chr3:60136596-60136597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570356142	chr3:60136633-60136634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542381461	chr3:60136636-60136637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147380671	chr3:60136641-60136642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575320319	chr3:60136646-60136647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75681197	chr3:60136647-60136648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397796662	chr3:60136659-60136660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560952105	chr3:60136665-60136666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189103676	chr3:60136668-60136669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139511224	chr3:60136701-60136702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553800736	chr3:60136735-60136736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112123229	chr3:60136744-60136745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545742602	chr3:60136763-60136764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143854669	chr3:60136797-60136798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181722627	chr3:60136801-60136802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61650100	chr3:60136809-60136810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs561561438	chr3:60136864-60136865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529057815	chr3:60136869-60136870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546616066	chr3:60136875-60136876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77233951	chr3:60136884-60136885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148594762	chr3:60136893-60136894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6788677	chr3:60136927-60136928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs544722600	chr3:60136955-60136956	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
Glioblastoma multiforme	21569311	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Cancer	20164919	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60123400-60141200	Weak transcription	Pancreas	Pancrea
2	chr3:60124800-60145400	Weak transcription	Thymus	Thymus
3	chr3:60135400-60139200	Weak transcription	Brain Substantia Nigra	brain
4	chr3:60139200-60139600	Enhancers	Brain Substantia Nigra	brain
5	chr3:60139600-60140200	Enhancers	Fetal Heart	heart
6	chr3:60139600-60161600	Weak transcription	Aorta	Aorta
7	chr3:60140200-60146600	Weak transcription	Fetal Heart	heart
8	chr3:60141200-60141400	Enhancers	Pancreas	Pancrea
9	chr3:60143000-60144000	Enhancers	Fetal Lung	lung
10	chr3:60143200-60143600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:60143400-60143800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr3:60143800-60144000	Enhancers	Adipose Nuclei	Adipose
13	chr3:60144000-60146000	Weak transcription	Fetal Lung	lung
14	chr3:60145400-60146600	Enhancers	Dnd41	blood
15	chr3:60145400-60148000	Enhancers	Thymus	Thymus
16	chr3:60145800-60146200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr3:60145800-60146400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr3:60145800-60147200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:60145800-60147400	Enhancers	Fetal Brain Male	brain
20	chr3:60145800-60148200	Enhancers	Fetal Thymus	thymus
21	chr3:60146000-60146400	Enhancers	Fetal Muscle Leg	muscle
22	chr3:60146000-60147000	Enhancers	Fetal Lung	lung
23	chr3:60146000-60147600	Enhancers	Fetal Brain Female	brain
24	chr3:60146200-60147200	Enhancers	Adipose Nuclei	Adipose
25	chr3:60146400-60146800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:60146400-60147000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:60146600-60147000	Enhancers	Fetal Heart	heart
28	chr3:60146800-60147200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:60147000-60147400	Enhancers	Left Ventricle	heart
30	chr3:60147000-60149600	Weak transcription	Fetal Heart	heart
31	chr3:60148000-60148800	Weak transcription	Thymus	Thymus
32	chr3:60148200-60148600	Weak transcription	Fetal Thymus	thymus
33	chr3:60148600-60150200	Enhancers	Fetal Thymus	thymus
34	chr3:60148800-60149800	Enhancers	Thymus	Thymus
35	chr3:60149400-60149800	Enhancers	Right Atrium	heart
36	chr3:60149600-60150000	Enhancers	Fetal Heart	heart
37	chr3:60150000-60152600	Weak transcription	Fetal Heart	heart
38	chr3:60150200-60155400	Weak transcription	Fetal Thymus	thymus
39	chr3:60152600-60153600	Enhancers	Fetal Heart	heart
40	chr3:60153600-60154200	Weak transcription	Fetal Heart	heart
41	chr3:60154200-60155600	Enhancers	Fetal Heart	heart
42	chr3:60154600-60155200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:60155400-60155600	Enhancers	Fetal Thymus	thymus
44	chr3:60155600-60156200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:60162200-60162600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:60162200-60163400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:60162200-60164000	Enhancers	Adipose Nuclei	Adipose
48	chr3:60162400-60162800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:60162400-60162800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr3:60162600-60164400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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