Variant report

Variant	nsv877064
Chromosome Location	chr3:83124229-83251399
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:83118932..83120993-chr3:83127067..83129361,2	MCF-7	breast:
2	chr3:83218573..83221000-chr3:83236194..83238608,2	MCF-7	breast:
3	chr3:83214717..83216507-chr3:83229248..83232091,2	MCF-7	breast:
4	chr3:83218573..83221000-chr3:83236194..83238608,2	MCF-7	breast:
5	chr3:83214717..83216507-chr3:83229248..83232091,2	MCF-7	breast:
6	chr3:83241662..83244183-chr3:83266254..83267831,2	MCF-7	breast:
7	chr3:83141093..83143297-chr3:83147179..83148923,2	MCF-7	breast:
8	chr3:83141093..83143297-chr3:83147179..83148923,2	MCF-7	breast:

No data

Extended variants
information (count: 586 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:586 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558485673	chr3:83124627-83124628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79407049	chr3:83124629-83124630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181488225	chr3:83124655-83124656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77772685	chr3:83124719-83124720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142764346	chr3:83124758-83124759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374604816	chr3:83124761-83124762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537075093	chr3:83124777-83124778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539935207	chr3:83124810-83124811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367579301	chr3:83124812-83124813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371460684	chr3:83124824-83124825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556907340	chr3:83124844-83124845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573232568	chr3:83124867-83124868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541873025	chr3:83124868-83124869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561988851	chr3:83124898-83124899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187018981	chr3:83124899-83124900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544535832	chr3:83124905-83124906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563936530	chr3:83124960-83124961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374894021	chr3:83124975-83124976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190250564	chr3:83124990-83124991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575752467	chr3:83125026-83125027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546249460	chr3:83125031-83125032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114625887	chr3:83125032-83125033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565748672	chr3:83125064-83125065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9882315	chr3:83125097-83125098	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs548682616	chr3:83125109-83125110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568871457	chr3:83125113-83125114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547965072	chr3:83125125-83125126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78605452	chr3:83125164-83125165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375664006	chr3:83125193-83125194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375251383	chr3:83125204-83125205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571007889	chr3:83125281-83125282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540046594	chr3:83125344-83125345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368265509	chr3:83125373-83125374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150710188	chr3:83125383-83125384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369881223	chr3:83125417-83125418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573277938	chr3:83125450-83125451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78678598	chr3:83125467-83125468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371860753	chr3:83125468-83125469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555460209	chr3:83125571-83125572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575642242	chr3:83125600-83125601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145280648	chr3:83138709-83138710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112266030	chr3:83138739-83138740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546963210	chr3:83138741-83138742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570058925	chr3:83138750-83138751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs398082242	chr3:83138751-83138752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57953557	chr3:83138752-83138753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573232857	chr3:83138787-83138788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566573440	chr3:83138790-83138791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535320592	chr3:83138839-83138840	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555253579	chr3:83138910-83138911	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Splenic marginal zone lymphoma	21957467	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
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83124600-83125600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:83138600-83138800	Weak transcription	Pancreas	Pancrea
3	chr3:83138800-83139200	Genic enhancers	Pancreas	Pancrea
4	chr3:83139200-83142000	Weak transcription	Pancreas	Pancrea
5	chr3:83140800-83142200	Enhancers	Liver	Liver
6	chr3:83141600-83142600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:83142200-83142600	Flanking Active TSS	Liver	Liver
8	chr3:83142200-83143200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:83142600-83142800	Enhancers	Liver	Liver
10	chr3:83145600-83145800	Enhancers	Pancreas	Pancrea
11	chr3:83163000-83163200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:83163200-83164200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:83164200-83165400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:83193600-83194200	Enhancers	Dnd41	blood
15	chr3:83200000-83200400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr3:83215600-83216000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr3:83215600-83216200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr3:83215800-83216400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr3:83230400-83231000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:83230600-83231400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:83238600-83239200	Enhancers	Dnd41	blood
22	chr3:83240400-83241400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:83241400-83241600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:83241600-83241800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:83241800-83242200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr3:83241800-83242400	Enhancers	H9 Cell Line	embryonic stem cell
27	chr3:83241800-83242400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr3:83247800-83249200	Enhancers	Dnd41	blood
29	chr3:83249800-83250000	Enhancers	Dnd41	blood

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