Variant report

Variant	nsv834708
Chromosome Location	chr3:60156091-60305452
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:86)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:86 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:60261204..60265514-chr3:60273828..60277768,4	K562	blood:
2	chr3:60265834..60270132-chr3:60272142..60277781,4	K562	blood:
3	chr3:60255084..60257458-chr3:60258706..60260675,3	K562	blood:
4	chr3:60260694..60264724-chr3:60264748..60271403,12	K562	blood:
5	chr3:60260853..60263177-chr3:60264748..60269648,5	K562	blood:
6	chr3:60258674..60261438-chr3:60261466..60264109,5	K562	blood:
7	chr3:60261650..60264808-chr3:60273372..60278082,5	K562	blood:
8	chr3:60183906..60185619-chr3:60186648..60189161,2	K562	blood:
9	chr3:60232635..60234409-chr3:60265559..60267834,2	K562	blood:
10	chr3:60271832..60274094-chr3:60278099..60280290,3	K562	blood:
11	chr3:60264136..60267761-chr3:60268146..60273300,4	K562	blood:
12	chr3:60251080..60254500-chr3:60254648..60256843,3	K562	blood:
13	chr3:60295573..60297345-chr3:60298835..60300684,2	K562	blood:
14	chr3:60261650..60264808-chr3:60273372..60278082,5	K562	blood:
15	chr3:60165952..60167759-chr3:60170117..60173099,2	K562	blood:
16	chr3:60244807..60248517-chr3:60249578..60252504,4	K562	blood:
17	chr3:60269337..60271765-chr3:60281168..60285461,3	K562	blood:
18	chr3:60264136..60267761-chr3:60268146..60273300,4	K562	blood:
19	chr3:60251900..60257769-chr3:60262692..60266340,5	K562	blood:
20	chr3:60256070..60258308-chr3:60290805..60292864,2	K562	blood:
21	chr3:60233213..60236039-chr3:60237445..60240033,2	K562	blood:
22	chr3:60295573..60297345-chr3:60298835..60300684,2	K562	blood:
23	chr3:60258674..60261438-chr3:60261466..60264109,5	K562	blood:
24	chr3:60289477..60292078-chr3:60293552..60296063,2	K562	blood:
25	chr3:60222812..60224764-chr3:60226709..60229125,2	K562	blood:
26	chr3:60238823..60240958-chr3:60247675..60249888,2	K562	blood:
27	chr3:60216976..60218581-chr3:60221614..60223794,2	K562	blood:
28	chr3:60269337..60271765-chr3:60281168..60285461,3	K562	blood:
29	chr3:60284006..60286419-chr3:60293595..60296204,2	K562	blood:
30	chr3:60285656..60288735-chr3:60288891..60292381,4	K562	blood:
31	chr3:60244130..60245681-chr3:60258765..60261150,2	K562	blood:
32	chr3:60260694..60264724-chr3:60264748..60271403,12	K562	blood:
33	chr3:60233213..60236039-chr3:60237445..60240033,2	K562	blood:
34	chr3:60255084..60257458-chr3:60258706..60260675,3	K562	blood:
35	chr3:60169452..60171383-chr3:60172881..60175585,3	K562	blood:
36	chr3:60258656..60260421-chr3:60265938..60268428,2	K562	blood:
37	chr3:60250531..60257484-chr3:60260695..60265801,11	K562	blood:
38	chr3:60244130..60245681-chr3:60258765..60261150,2	K562	blood:
39	chr3:60289477..60292078-chr3:60293552..60296063,2	K562	blood:
40	chr3:60256070..60258308-chr3:60290805..60292864,2	K562	blood:
41	chr3:60243402..60246307-chr3:60248980..60251582,2	K562	blood:
42	chr3:60282564..60285388-chr3:60286384..60290912,4	K562	blood:
43	chr3:60253037..60257484-chr3:60258010..60262494,9	K562	blood:
44	chr3:60253037..60257484-chr3:60258010..60262494,9	K562	blood:
45	chr3:60250531..60257484-chr3:60260695..60265801,11	K562	blood:
46	chr3:60169452..60171383-chr3:60172881..60175585,3	K562	blood:
47	chr3:60251900..60257769-chr3:60262692..60266340,5	K562	blood:
48	chr3:60232635..60234409-chr3:60265559..60267834,2	K562	blood:
49	chr3:60222812..60224764-chr3:60226709..60229125,2	K562	blood:
50	chr3:60201561..60203293-chr3:60258409..60260445,2	K562	blood:

No data

Extended variants
information (count: 6766 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:6766 , 50 per page) page: 1 2 3 4 5 6 7 ... 136

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555168995	chr3:60156094-60156095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147733973	chr3:60156146-60156147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571349623	chr3:60156161-60156162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538745880	chr3:60156166-60156167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76967761	chr3:60156184-60156185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1016449	chr3:60156189-60156190	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs577739815	chr3:60156196-60156197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184731366	chr3:60156215-60156216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1016450	chr3:60156248-60156249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs113011371	chr3:60156256-60156257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542511047	chr3:60156258-60156259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370205876	chr3:60156321-60156322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561146093	chr3:60156330-60156331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528264791	chr3:60156397-60156398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189107914	chr3:60156406-60156407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192983078	chr3:60156426-60156427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185260084	chr3:60156431-60156432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575660419	chr3:60156438-60156439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550579446	chr3:60156439-60156440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376059974	chr3:60156451-60156452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189687785	chr3:60156456-60156457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548589465	chr3:60156460-60156461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567098563	chr3:60156492-60156493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534108529	chr3:60156534-60156535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546750280	chr3:60156543-60156544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571379361	chr3:60156556-60156557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538709213	chr3:60156640-60156641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554775132	chr3:60156677-60156678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556999520	chr3:60156698-60156699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376979389	chr3:60156707-60156708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544703079	chr3:60156711-60156712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554565739	chr3:60156752-60156753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181232435	chr3:60156829-60156830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540025206	chr3:60156906-60156907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185132987	chr3:60156929-60156930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1040338	chr3:60156930-60156931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs540572522	chr3:60156931-60156932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544256229	chr3:60156992-60156993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564866416	chr3:60157028-60157029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370239090	chr3:60157042-60157043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527988929	chr3:60157053-60157054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35178232	chr3:60157097-60157098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148331086	chr3:60157117-60157118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564869276	chr3:60157123-60157124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530035339	chr3:60157145-60157146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141457683	chr3:60157195-60157196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73831948	chr3:60157201-60157202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs527951268	chr3:60157209-60157210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115698803	chr3:60157215-60157216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368641435	chr3:60157259-60157260	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:483 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60139600-60161600	Weak transcription	Aorta	Aorta
2	chr3:60155600-60156200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:60162200-60162600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:60162200-60163400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:60162200-60164000	Enhancers	Adipose Nuclei	Adipose
6	chr3:60162400-60162800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:60162400-60162800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr3:60162600-60164400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:60162800-60163600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:60162800-60167800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:60163200-60163800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr3:60163400-60164800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:60163800-60164800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr3:60164000-60165000	Weak transcription	Adipose Nuclei	Adipose
15	chr3:60164600-60164800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:60164800-60165000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr3:60164800-60165400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr3:60164800-60165600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:60164800-60166000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:60165000-60165200	Enhancers	Adipose Nuclei	Adipose
21	chr3:60166000-60166200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:60166000-60166200	Enhancers	Fetal Thymus	thymus
23	chr3:60166200-60174600	Weak transcription	Fetal Thymus	thymus
24	chr3:60167800-60168200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr3:60167800-60168200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr3:60168200-60172200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr3:60170800-60174600	Weak transcription	K562	blood
28	chr3:60171800-60175600	Weak transcription	Aorta	Aorta
29	chr3:60172000-60176000	Enhancers	Fetal Heart	heart
30	chr3:60172200-60173400	Enhancers	H9 Cell Line	embryonic stem cell
31	chr3:60172200-60173400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr3:60172600-60173400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:60172600-60173400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr3:60172600-60173400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr3:60172600-60173600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr3:60172600-60173600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr3:60172800-60173000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr3:60172800-60173200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:60172800-60173200	Enhancers	Brain Germinal Matrix	brain
40	chr3:60173000-60173200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:60173000-60173600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr3:60173000-60175000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr3:60173200-60174600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:60173400-60174400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:60173400-60174400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:60173400-60175000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr3:60173600-60174600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr3:60173600-60175000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr3:60174400-60175000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr3:60174400-60175200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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