Variant report

Variant	nsv590739
Chromosome Location	chr3:79704831-79756484
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:79708743..79711096-chr3:79711481..79714388,3	MCF-7	breast:
2	chr3:79733600..79735105-chr3:79743459..79746281,2	MCF-7	breast:
3	chr3:79708743..79711096-chr3:79711481..79714388,3	MCF-7	breast:
4	chr3:79733600..79735105-chr3:79743459..79746281,2	MCF-7	breast:
5	chr3:79751071..79751988-chr6:4044472..4045061,2	MCF-7	breast:

Extended variants
information (count: 162 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184523867	chr3:79711010-79711011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530547750	chr3:79711024-79711025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145183744	chr3:79711027-79711028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189393679	chr3:79711031-79711032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182239684	chr3:79711036-79711037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371630778	chr3:79711057-79711058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200727152	chr3:79711077-79711078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531778699	chr3:79711101-79711102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550890477	chr3:79711131-79711132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35686616	chr3:79711156-79711157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140250941	chr3:79711177-79711178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78413157	chr3:79711263-79711264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539241244	chr3:79711381-79711382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375389812	chr3:79711539-79711540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567604187	chr3:79711559-79711560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77439636	chr3:79711567-79711568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540845186	chr3:79711589-79711590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186154868	chr3:79711597-79711598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536053122	chr3:79711649-79711650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574884913	chr3:79711714-79711715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537496720	chr3:79711730-79711731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558009444	chr3:79711751-79711752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578223842	chr3:79711792-79711793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540441113	chr3:79711793-79711794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189005756	chr3:79711804-79711805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574006881	chr3:79711836-79711837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149146419	chr3:79711860-79711861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553132919	chr3:79711869-79711870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181368308	chr3:79711874-79711875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368399503	chr3:79711888-79711889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185847249	chr3:79711899-79711900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369051945	chr3:79711914-79711915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531715209	chr3:79711928-79711929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545452124	chr3:79711930-79711931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191336010	chr3:79711941-79711942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532596596	chr3:79711949-79711950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117499389	chr3:79711972-79711973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559372215	chr3:79720866-79720867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532582438	chr3:79720882-79720883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528582195	chr3:79720883-79720884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552891068	chr3:79720899-79720900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555586778	chr3:79720930-79720931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34254787	chr3:79720949-79720950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9809381	chr3:79720962-79720963	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs374403516	chr3:79721019-79721020	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs537502462	chr3:79721099-79721100	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs538438786	chr3:79721109-79721110	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs549799062	chr3:79721114-79721115	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs569942473	chr3:79721119-79721120	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs554869616	chr3:79721213-79721214	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
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
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
Acute myeloid leukemia	21251322	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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	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
Colorectal cancer	16912164	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:79711000-79712000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:79711200-79712000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr3:79711600-79712000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:79711600-79712000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr3:79720800-79721000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr3:79721000-79721400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr3:79721000-79721600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:79721000-79722000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:79721000-79722000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr3:79721000-79722200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:79721000-79722200	Enhancers	Brain Germinal Matrix	brain
12	chr3:79734200-79734600	Enhancers	HepG2	liver
13	chr3:79744600-79745000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:79753400-79753800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:79753400-79754200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:79753400-79754200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:79753800-79754200	Enhancers	HUES64 Cell Line	embryonic stem cell

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