Variant report

Variant	nsv834748
Chromosome Location	chr3:79828668-79985688
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:79852227..79853757-chr3:79856920..79859314,2	MCF-7	breast:
2	chr3:79917063..79919514-chr3:79920813..79923055,2	MCF-7	breast:
3	chr3:79898588..79900974-chr3:79908884..79910528,2	K562	blood:
4	chr3:79925894..79927399-chr3:79928694..79930422,2	MCF-7	breast:
5	chr3:79936013..79938678-chr3:79939132..79941923,2	MCF-7	breast:
6	chr3:79853639..79855426-chr3:79859362..79861187,2	MCF-7	breast:
7	chr3:79936013..79938678-chr3:79939132..79941923,2	MCF-7	breast:
8	chr3:79861656..79863360-chr3:79921900..79923820,2	MCF-7	breast:
9	chr3:79892706..79894533-chr3:79898255..79901019,2	MCF-7	breast:
10	chr12:53846577..53847078-chr3:79971381..79971881,2	Hela-S3	cervix:
11	chr3:79925894..79927399-chr3:79928694..79930422,2	MCF-7	breast:
12	chr3:79861656..79863360-chr3:79921900..79923820,2	MCF-7	breast:
13	chr3:79892706..79894533-chr3:79898255..79901019,2	MCF-7	breast:
14	chr3:79898588..79900974-chr3:79908884..79910528,2	K562	blood:
15	chr3:79836046..79838934-chr3:79839908..79842507,2	MCF-7	breast:
16	chr3:79836046..79838934-chr3:79839908..79842507,2	MCF-7	breast:
17	chr20:50831774..50832427-chr3:79921398..79922155,2	MCF-7	breast:
18	chr3:79985588..79988269-chr3:79997438..79999054,2	MCF-7	breast:
19	chr3:79853639..79855426-chr3:79859362..79861187,2	MCF-7	breast:
20	chr3:79852227..79853757-chr3:79856920..79859314,2	MCF-7	breast:
21	chr3:79917063..79919514-chr3:79920813..79923055,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197111	chromatin interactions

Extended variants
information (count: 1730 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1730 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574461484	chr3:79843208-79843209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144101429	chr3:79843209-79843210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556540295	chr3:79843237-79843238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373164423	chr3:79843271-79843272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557152170	chr3:79843289-79843290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148691664	chr3:79843291-79843292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9989978	chr3:79843294-79843295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546131656	chr3:79843301-79843302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559679180	chr3:79843311-79843312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577039465	chr3:79843324-79843325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34884540	chr3:79843344-79843345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142770886	chr3:79843355-79843356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190233849	chr3:79843359-79843360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550948096	chr3:79843369-79843370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564511970	chr3:79843370-79843371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181097785	chr3:79843382-79843383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9990010	chr3:79843426-79843427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147250398	chr3:79843436-79843437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140801653	chr3:79843460-79843461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369959685	chr3:79843502-79843503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72905662	chr3:79843521-79843522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs369434567	chr3:79843528-79843529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534779326	chr3:79843549-79843550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573456549	chr3:79843574-79843575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185098334	chr3:79843585-79843586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545300694	chr3:79843586-79843587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144752165	chr3:79843604-79843605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147927042	chr3:79843613-79843614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189565687	chr3:79843639-79843640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539726095	chr3:79843648-79843649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140529027	chr3:79843693-79843694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182550608	chr3:79843715-79843716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189246608	chr3:79843723-79843724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377452676	chr3:79843726-79843727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374892405	chr3:79843744-79843745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562148810	chr3:79843802-79843803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575797430	chr3:79843813-79843814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544750772	chr3:79843814-79843815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114204521	chr3:79843827-79843828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191895934	chr3:79843915-79843916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530486615	chr3:79843920-79843921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115230016	chr3:79843933-79843934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115915989	chr3:79843943-79843944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78702625	chr3:79843970-79843971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34633044	chr3:79843986-79843987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568204048	chr3:79844075-79844076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76954570	chr3:79844097-79844098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116093878	chr3:79844160-79844161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183805024	chr3:79844196-79844197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1502287	chr3:79844200-79844201	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

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
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:79843200-79843400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:79843400-79844000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:79844000-79844800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:79846200-79846600	Enhancers	Brain Germinal Matrix	brain
5	chr3:79853000-79853400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr3:79859000-79859400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:79860000-79860800	Enhancers	HUVEC	blood vessel
8	chr3:79885200-79885600	Enhancers	Placenta	Placenta
9	chr3:79891800-79894000	Enhancers	HUVEC	blood vessel
10	chr3:79892200-79893200	Enhancers	Hela-S3	cervix
11	chr3:79892800-79893600	Enhancers	NH-A	brain
12	chr3:79893400-79894200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr3:79893600-79894600	Weak transcription	NH-A	brain
14	chr3:79894600-79895200	Enhancers	NH-A	brain
15	chr3:79895200-79896400	Weak transcription	NH-A	brain
16	chr3:79895400-79895800	Enhancers	Liver	Liver
17	chr3:79895800-79896200	Enhancers	Ovary	ovary
18	chr3:79895800-79896600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr3:79913400-79914000	Enhancers	Fetal Lung	lung
20	chr3:79914000-79918000	Weak transcription	Fetal Lung	lung
21	chr3:79917400-79927400	Weak transcription	Aorta	Aorta
22	chr3:79918000-79921200	Enhancers	Fetal Lung	lung
23	chr3:79918200-79918800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:79919600-79922800	Enhancers	HUVEC	blood vessel
25	chr3:79920200-79920600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr3:79920400-79921200	Enhancers	Ovary	ovary
27	chr3:79920400-79922400	Enhancers	NH-A	brain
28	chr3:79920400-79923000	Enhancers	Hela-S3	cervix
29	chr3:79920400-79925000	Enhancers	Fetal Heart	heart
30	chr3:79920600-79921000	Enhancers	Fetal Brain Female	brain
31	chr3:79921200-79925000	Weak transcription	Fetal Lung	lung
32	chr3:79922800-79928400	Weak transcription	HUVEC	blood vessel
33	chr3:79923000-79927600	Weak transcription	Hela-S3	cervix
34	chr3:79925000-79933400	Weak transcription	Fetal Heart	heart
35	chr3:79927400-79928000	ZNF genes & repeats	Aorta	Aorta
36	chr3:79927600-79928000	ZNF genes & repeats	Adipose Nuclei	Adipose
37	chr3:79927600-79929000	Enhancers	Hela-S3	cervix
38	chr3:79928400-79928600	Enhancers	HUVEC	blood vessel
39	chr3:79933400-79934000	Enhancers	Fetal Brain Female	brain
40	chr3:79933400-79934200	Enhancers	Fetal Brain Male	brain
41	chr3:79933400-79935600	Enhancers	Fetal Heart	heart
42	chr3:79933600-79934000	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr3:79935200-79935600	Enhancers	Fetal Lung	lung
44	chr3:79953000-79953600	Enhancers	Fetal Intestine Small	intestine
45	chr3:79954400-79954600	Enhancers	Ovary	ovary
46	chr3:79955200-79955400	Active TSS	Ovary	ovary
47	chr3:79955400-79955600	Flanking Active TSS	Ovary	ovary
48	chr3:79955600-79959600	Weak transcription	Ovary	ovary
49	chr3:79959600-79959800	Enhancers	Ovary	ovary
50	chr3:79974400-79974600	Enhancers	HUVEC	blood vessel

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