Variant report

Variant	nsv1026098
Chromosome Location	chr8:5990270-6000754
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4919533..4920406-chr8:5997153..5998101,2	MCF-7	breast:
2	chr8:5543604..5544126-chr8:5997197..5997756,2	MCF-7	breast:
3	chr8:5990205..5992800-chr8:5992973..5994775,2	K562	blood:
4	chr8:4919838..4920394-chr8:5997449..5998189,2	K562	blood:
5	chr8:5917249..5917976-chr8:5997130..5997653,2	MCF-7	breast:
6	chr8:5990205..5992800-chr8:5992973..5994775,2	K562	blood:

Extended variants
information (count: 777 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:777 , 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	rs2570704	chr8:5990270-5990271	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183778014	chr8:5990274-5990275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114493595	chr8:5990283-5990284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561653734	chr8:5990286-5990287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573314720	chr8:5990291-5990292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs62503549	chr8:5990316-5990317	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs564393453	chr8:5990321-5990322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571471685	chr8:5990326-5990327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555727417	chr8:5990327-5990328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1971079	chr8:5990329-5990330	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs536100991	chr8:5990355-5990356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549650106	chr8:5990373-5990374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566385163	chr8:5990384-5990385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189446886	chr8:5990404-5990405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553780993	chr8:5990405-5990406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181426831	chr8:5990429-5990430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79383568	chr8:5990431-5990432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2552209	chr8:5990440-5990441	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs116095753	chr8:5990441-5990442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142760586	chr8:5990447-5990448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542257775	chr8:5990452-5990453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2700824	chr8:5990456-5990457	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs576242425	chr8:5990470-5990471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185099423	chr8:5990474-5990475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146074216	chr8:5990487-5990488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2570654	chr8:5990511-5990512	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs563633341	chr8:5990527-5990528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190345241	chr8:5990543-5990544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182086837	chr8:5990559-5990560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186425188	chr8:5990577-5990578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190926402	chr8:5990579-5990580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551828468	chr8:5990587-5990588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371667098	chr8:5990600-5990601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539067604	chr8:5990610-5990611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576119022	chr8:5990632-5990633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148686882	chr8:5990647-5990648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535241253	chr8:5990658-5990659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543136379	chr8:5990671-5990672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571947278	chr8:5990678-5990679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34729645	chr8:5990681-5990682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540919961	chr8:5990682-5990683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11787000	chr8:5990684-5990685	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs142235127	chr8:5990692-5990693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541235519	chr8:5990693-5990694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11787023	chr8:5990708-5990709	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs180684581	chr8:5990714-5990715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550282670	chr8:5990715-5990716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150764347	chr8:5990741-5990742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559977074	chr8:5990746-5990747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139156671	chr8:5990751-5990752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	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
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
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5983400-5991800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:5990200-5994400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:5990600-5990800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:5990600-5991200	Enhancers	Fetal Muscle Trunk	muscle
5	chr8:5990800-5991400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:5990800-5992400	Enhancers	Fetal Muscle Leg	muscle
7	chr8:5991400-5991600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:5991400-5991600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:5991400-5991600	Enhancers	Brain Hippocampus Middle	brain
10	chr8:5991400-5991800	Enhancers	Brain Anterior Caudate	brain
11	chr8:5991400-5992200	Enhancers	Fetal Kidney	kidney
12	chr8:5991400-5992800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:5991400-5993400	Enhancers	Brain Angular Gyrus	brain
14	chr8:5991400-5993800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr8:5991400-5994000	Enhancers	Brain Cingulate Gyrus	brain
16	chr8:5991400-5994400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:5991400-5994400	Enhancers	Brain Substantia Nigra	brain
18	chr8:5991600-5991800	Enhancers	Fetal Brain Female	brain
19	chr8:5991600-5992200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:5991600-5992200	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr8:5991600-5992800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:5991600-5994400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:5991600-5994600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr8:5991800-5992000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:5991800-5992200	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr8:5991800-5992400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:5991800-5992400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr8:5991800-5992400	Flanking Active TSS	Fetal Brain Female	brain
29	chr8:5991800-5992600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:5991800-5993200	Enhancers	Brain Germinal Matrix	brain
31	chr8:5991800-5993400	Enhancers	Fetal Brain Male	brain
32	chr8:5991800-5993800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr8:5991800-5994400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:5992000-5992600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr8:5992000-5994400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr8:5992200-5992600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:5992200-5992600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:5992200-5992600	Enhancers	Brain Hippocampus Middle	brain
39	chr8:5992200-5993000	Enhancers	Brain Anterior Caudate	brain
40	chr8:5992200-5993600	Enhancers	Placenta Amnion	Placenta Amnion
41	chr8:5992200-5994400	Enhancers	H1 Cell Line	embryonic stem cell
42	chr8:5992400-5992600	Enhancers	H9 Cell Line	embryonic stem cell
43	chr8:5992400-5992600	Enhancers	Fetal Brain Female	brain
44	chr8:5992400-5994400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr8:5992400-6007800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:5992600-5993600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:5992600-5996200	Weak transcription	Brain Hippocampus Middle	brain
48	chr8:5992600-5996600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:5992800-5993400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:5992800-5993800	Weak transcription	H9 Cell Line	embryonic stem cell

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