Variant report

Variant	nsv470171
Chromosome Location	chr8:3089739-3102207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:32879411..32879983-chr8:3091793..3092520,2	MCF-7	breast:

Extended variants
information (count: 781 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:781 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370986361	chr8:3092001-3092002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534794888	chr8:3092003-3092004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186921550	chr8:3092038-3092039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189763256	chr8:3092044-3092045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145134894	chr8:3092056-3092057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556544386	chr8:3092060-3092061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79391415	chr8:3092082-3092083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181329501	chr8:3092094-3092095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185918335	chr8:3092102-3092103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572620516	chr8:3092109-3092110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117585453	chr8:3092158-3092159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561284007	chr8:3092190-3092191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530213693	chr8:3092241-3092242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189858793	chr8:3092255-3092256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563712979	chr8:3092257-3092258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532537393	chr8:3092259-3092260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182476377	chr8:3092275-3092276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377385121	chr8:3092288-3092289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565986737	chr8:3092314-3092315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372360658	chr8:3092321-3092322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534582211	chr8:3092322-3092323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553393302	chr8:3092326-3092327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573421455	chr8:3092340-3092341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568117917	chr8:3092344-3092345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536799468	chr8:3092347-3092348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572986418	chr8:3092361-3092362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs56363038	chr8:3092362-3092363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1442408	chr8:3092375-3092376	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs539064832	chr8:3092380-3092381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186400977	chr8:3092393-3092394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144510110	chr8:3094427-3094428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73660622	chr8:3094471-3094472	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs186818926	chr8:3094501-3094502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9650504	chr8:3094508-3094509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556442574	chr8:3094513-3094514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113864755	chr8:3094514-3094515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73660623	chr8:3094530-3094531	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs558598364	chr8:3094535-3094536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572017467	chr8:3094551-3094552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571613838	chr8:3094555-3094556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112206717	chr8:3094557-3094558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142535599	chr8:3094589-3094590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542911548	chr8:3094596-3094597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73660624	chr8:3094616-3094617	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs191603801	chr8:3094627-3094628	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs531775970	chr8:3094629-3094630	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs115316473	chr8:3094640-3094641	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs538969583	chr8:3094651-3094652	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs527752145	chr8:3094654-3094655	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs547770880	chr8:3094676-3094677	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	19805367	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3092000-3092400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:3094400-3094600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:3094400-3094600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:3094600-3094800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr8:3094600-3096600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:3094800-3095000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:3095000-3096200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:3095200-3096200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:3095800-3096000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr8:3096200-3096600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:3096200-3096600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr8:3096200-3097200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:3096600-3096800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:3096800-3097600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:3097200-3099800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:3097600-3097800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:3099000-3099200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
18	chr8:3099200-3099800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr8:3099200-3100200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr8:3099600-3099800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr8:3099600-3100000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr8:3099600-3100000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:3099600-3101000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
24	chr8:3099800-3100000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:3099800-3100000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
26	chr8:3099800-3100000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
27	chr8:3099800-3101000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr8:3100000-3100400	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:3100000-3101400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
30	chr8:3100000-3101600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr8:3100200-3100400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:3100200-3100600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
33	chr8:3100200-3101000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
34	chr8:3100400-3100800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:3100400-3101600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
36	chr8:3100800-3101000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
37	chr8:3100800-3101400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:3100800-3102600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:3101000-3101200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
40	chr8:3101000-3101400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
41	chr8:3101000-3101600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
42	chr8:3101000-3101600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr8:3101200-3101400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
44	chr8:3101400-3101600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:3101400-3101800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
46	chr8:3101400-3101800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
47	chr8:3101400-3101800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
48	chr8:3101400-3101800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
49	chr8:3101400-3103800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:3101600-3101800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell

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