Variant report

Variant	nsv1000793
Chromosome Location	chr3:85020452-85051839
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:85023240..85023756-chr3:85409642..85410352,2	MCF-7	breast:
2	chr3:85038561..85040690-chr3:85042508..85045093,2	MCF-7	breast:
3	chr3:85029590..85031359-chr3:85035312..85037118,2	K562	blood:
4	chr3:85038561..85040690-chr3:85042508..85045093,2	MCF-7	breast:
5	chr3:85029590..85031359-chr3:85035312..85037118,2	K562	blood:

Extended variants
information (count: 1076 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1076 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17022138	chr3:85020452-85020453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577751150	chr3:85020459-85020460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545198695	chr3:85020460-85020461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187410142	chr3:85020550-85020551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375388243	chr3:85020583-85020584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530826134	chr3:85020740-85020741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs66579362	chr3:85020747-85020748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370387989	chr3:85020749-85020750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549313051	chr3:85020754-85020755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560943666	chr3:85020795-85020796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528801185	chr3:85020819-85020820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191874159	chr3:85020845-85020846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571537234	chr3:85020892-85020893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs60523596	chr3:85020984-85020985	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs551206457	chr3:85021005-85021006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182911943	chr3:85021022-85021023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187716068	chr3:85021080-85021081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555445424	chr3:85021081-85021082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562757215	chr3:85021100-85021101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190942926	chr3:85021125-85021126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182838512	chr3:85021253-85021254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148821727	chr3:85021277-85021278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72917438	chr3:85021292-85021293	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs187121269	chr3:85021363-85021364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192188628	chr3:85021388-85021389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534065767	chr3:85021390-85021391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575740300	chr3:85021393-85021394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542703004	chr3:85021400-85021401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560982393	chr3:85021407-85021408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575972572	chr3:85021433-85021434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528447877	chr3:85021487-85021488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546913108	chr3:85021509-85021510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561197066	chr3:85021553-85021554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565205415	chr3:85021554-85021555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12489021	chr3:85021664-85021665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs551109937	chr3:85021812-85021813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143424751	chr3:85021938-85021939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375539776	chr3:85021977-85021978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184350856	chr3:85021998-85021999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562504941	chr3:85022012-85022013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs80053109	chr3:85022028-85022029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534570828	chr3:85022029-85022030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561480336	chr3:85022043-85022044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553318411	chr3:85022121-85022122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113414903	chr3:85022159-85022160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527363817	chr3:85022175-85022176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571478413	chr3:85022194-85022195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546837569	chr3:85022238-85022239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114391341	chr3:85022259-85022260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115039549	chr3:85022279-85022280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Autism	22102821	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85017600-85021000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:85018000-85021000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr3:85018000-85027600	Weak transcription	Brain Substantia Nigra	brain
4	chr3:85018200-85022600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:85018200-85029200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:85018400-85025800	Weak transcription	Brain Angular Gyrus	brain
7	chr3:85018400-85027800	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:85018400-85028000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:85018400-85029200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:85019000-85028000	Weak transcription	Brain Anterior Caudate	brain
11	chr3:85019200-85026200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:85019600-85029200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr3:85019800-85020800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:85019800-85029200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:85020000-85030400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:85020000-85030600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:85020200-85022600	Weak transcription	Fetal Kidney	kidney
18	chr3:85020200-85027600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr3:85020200-85032200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:85020800-85021000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:85021000-85021400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:85022600-85022800	Enhancers	Fetal Kidney	kidney
23	chr3:85022800-85028000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:85025800-85029000	Enhancers	Brain Angular Gyrus	brain
25	chr3:85026200-85026400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:85027600-85028200	Enhancers	Brain Cingulate Gyrus	brain
27	chr3:85027600-85030800	Enhancers	Brain Substantia Nigra	brain
28	chr3:85027800-85028600	Enhancers	Brain Hippocampus Middle	brain
29	chr3:85027800-85030000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr3:85028000-85028400	Enhancers	Brain Germinal Matrix	brain
31	chr3:85028000-85028400	Enhancers	Fetal Lung	lung
32	chr3:85028000-85028400	Enhancers	Fetal Muscle Leg	muscle
33	chr3:85028000-85028600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:85028000-85028800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr3:85028000-85029000	Enhancers	Brain Anterior Caudate	brain
36	chr3:85028200-85029000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr3:85028400-85029200	Weak transcription	Fetal Lung	lung
38	chr3:85028400-85033800	Weak transcription	Brain Germinal Matrix	brain
39	chr3:85028600-85029000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:85028600-85029000	Weak transcription	Brain Hippocampus Middle	brain
41	chr3:85028600-85030800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:85028800-85029200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr3:85029000-85029200	Enhancers	Brain Cingulate Gyrus	brain
44	chr3:85029000-85029200	Enhancers	Brain Hippocampus Middle	brain
45	chr3:85029000-85029400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:85029000-85029400	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr3:85029000-85029600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:85029000-85029600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr3:85029000-85029800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr3:85029000-85029800	Flanking Active TSS	Brain Anterior Caudate	brain

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