Variant report

Variant	nsv982095
Chromosome Location	chr8:5954078-6011850
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

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

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANGPT2-3	chr8:5957850-5957973	ENSG00000253880

No data

Extended variants
information (count: 3677 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:3677 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139543762	chr8:5954094-5954095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550462569	chr8:5954113-5954114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570350340	chr8:5954127-5954128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537398661	chr8:5954128-5954129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187544894	chr8:5954133-5954134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568006531	chr8:5954136-5954137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115882237	chr8:5954155-5954156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376402601	chr8:5954161-5954162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7011308	chr8:5954166-5954167	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs191384730	chr8:5954170-5954171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183973124	chr8:5954184-5954185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187158050	chr8:5954192-5954193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62494452	chr8:5954213-5954214	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs191708479	chr8:5954214-5954215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375062868	chr8:5954218-5954219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149718369	chr8:5954238-5954239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527715025	chr8:5954246-5954247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184993566	chr8:5954247-5954248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528244153	chr8:5954253-5954254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370492073	chr8:5954254-5954255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4875225	chr8:5954258-5954259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139601119	chr8:5954267-5954268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147834616	chr8:5954289-5954290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367570105	chr8:5954292-5954293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530146713	chr8:5954293-5954294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550353652	chr8:5954317-5954318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs207468930	chr8:5954361-5954362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570214272	chr8:5954427-5954428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs207468931	chr8:5954435-5954436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190335049	chr8:5954449-5954450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78826981	chr8:5954450-5954451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201409849	chr8:5954499-5954500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568029871	chr8:5954513-5954514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181972060	chr8:5954523-5954524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533579977	chr8:5954524-5954525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7822829	chr8:5954536-5954537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs185831975	chr8:5954544-5954545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375336904	chr8:5954557-5954558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569756681	chr8:5954559-5954560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570212770	chr8:5954561-5954562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188205298	chr8:5954562-5954563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556312833	chr8:5954589-5954590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576202220	chr8:5954592-5954593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62494453	chr8:5954595-5954596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs372030187	chr8:5954596-5954597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552482839	chr8:5954616-5954617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181073815	chr8:5954617-5954618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77377674	chr8:5954620-5954621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540251013	chr8:5954646-5954647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564525292	chr8:5954649-5954650	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:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5952800-5954400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:5953400-5954200	Enhancers	Brain Substantia Nigra	brain
3	chr8:5954000-5954200	Enhancers	Fetal Brain Male	brain
4	chr8:5954200-5954400	Enhancers	Fetal Brain Female	brain
5	chr8:5954200-5955400	Weak transcription	Fetal Brain Male	brain
6	chr8:5962200-5979000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:5973000-5973600	Enhancers	Brain Anterior Caudate	brain
8	chr8:5973000-5973800	Enhancers	Brain Hippocampus Middle	brain
9	chr8:5973000-5974000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:5973200-5973600	Enhancers	Brain Substantia Nigra	brain
11	chr8:5973600-5974200	Weak transcription	Brain Anterior Caudate	brain
12	chr8:5974200-5974400	Enhancers	Brain Anterior Caudate	brain
13	chr8:5979000-5979200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:5979000-5979200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:5979200-5983200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:5981400-5981800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:5981400-5981800	Enhancers	Brain Cingulate Gyrus	brain
18	chr8:5981600-5982000	Enhancers	Brain Hippocampus Middle	brain
19	chr8:5981600-5982000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr8:5981800-5982000	Enhancers	Fetal Stomach	stomach
21	chr8:5982000-5984800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:5983200-5983400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:5983400-5991800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:5984800-5986200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:5984800-5986600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr8:5985000-5985800	Enhancers	NHEK	skin
27	chr8:5985000-5986400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:5986600-5990200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:5990200-5994400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr8:5990600-5990800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:5990600-5991200	Enhancers	Fetal Muscle Trunk	muscle
32	chr8:5990800-5991400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:5990800-5992400	Enhancers	Fetal Muscle Leg	muscle
34	chr8:5991400-5991600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:5991400-5991600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:5991400-5991600	Enhancers	Brain Hippocampus Middle	brain
37	chr8:5991400-5991800	Enhancers	Brain Anterior Caudate	brain
38	chr8:5991400-5992200	Enhancers	Fetal Kidney	kidney
39	chr8:5991400-5992800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr8:5991400-5993400	Enhancers	Brain Angular Gyrus	brain
41	chr8:5991400-5993800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr8:5991400-5994000	Enhancers	Brain Cingulate Gyrus	brain
43	chr8:5991400-5994400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr8:5991400-5994400	Enhancers	Brain Substantia Nigra	brain
45	chr8:5991600-5991800	Enhancers	Fetal Brain Female	brain
46	chr8:5991600-5992200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:5991600-5992200	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr8:5991600-5992800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:5991600-5994400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr8:5991600-5994600	Enhancers	HUES48 Cell Line	embryonic stem cell

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