Variant report

Variant	nsv1019367
Chromosome Location	chr8:114205501-114288454
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:114228732..114230731-chr8:114233226..114235418,2	MCF-7	breast:
2	chr8:114228732..114230731-chr8:114233226..114235418,2	MCF-7	breast:
3	chr8:114229145..114230999-chr8:114232153..114234565,2	K562	blood:
4	chr8:113773910..113774788-chr8:114210759..114211408,2	MCF-7	breast:
5	chr8:114229145..114230999-chr8:114232153..114234565,2	K562	blood:
6	chr8:114214112..114215316-chr8:114390224..114391492,6	MCF-7	breast:
7	chr8:114200013..114203361-chr8:114205851..114208683,3	K562	blood:

Extended variants
information (count: 611 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555856862	chr8:114205507-114205508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs367700800	chr8:114205524-114205525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568086888	chr8:114205528-114205529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572309311	chr8:114205537-114205538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541222950	chr8:114205547-114205548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190010932	chr8:114205632-114205633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183359035	chr8:114205643-114205644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564536214	chr8:114205672-114205673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72687622	chr8:114205693-114205694	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs558020575	chr8:114205717-114205718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74447359	chr8:114205734-114205735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11324935	chr8:114205735-114205736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570484046	chr8:114205745-114205746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539210820	chr8:114205767-114205768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548712075	chr8:114205794-114205795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377211177	chr8:114205800-114205801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150899914	chr8:114205865-114205866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527909191	chr8:114205878-114205879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558891024	chr8:114205879-114205880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73701333	chr8:114205892-114205893	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs11987770	chr8:114205997-114205998	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539766647	chr8:114205998-114205999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565983739	chr8:114206023-114206024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138337300	chr8:114206033-114206034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28637150	chr8:114206095-114206096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs535839961	chr8:114206096-114206097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72687623	chr8:114206137-114206138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs376873124	chr8:114206140-114206141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187326515	chr8:114206146-114206147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191779343	chr8:114206201-114206202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557680474	chr8:114206204-114206205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577736068	chr8:114206218-114206219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550888454	chr8:114206232-114206233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543364281	chr8:114206236-114206237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183515070	chr8:114206243-114206244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149450989	chr8:114206266-114206267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188158798	chr8:114206293-114206294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191704029	chr8:114206300-114206301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559058411	chr8:114206302-114206303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528189460	chr8:114206308-114206309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551035091	chr8:114206311-114206312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562838583	chr8:114206327-114206328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570960173	chr8:114206364-114206365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533528041	chr8:114206378-114206379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147141580	chr8:114206389-114206390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72687625	chr8:114206417-114206418	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs535878302	chr8:114206450-114206451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549381438	chr8:114206454-114206455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182079276	chr8:114206468-114206469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535142161	chr8:114206476-114206477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114205200-114205600	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr8:114205200-114205600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:114205200-114205600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:114205200-114205600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr8:114205200-114205800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:114205200-114206000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:114205400-114206000	Enhancers	Hela-S3	cervix
8	chr8:114206000-114213000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:114212400-114214200	Enhancers	Brain Germinal Matrix	brain
10	chr8:114212400-114214600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:114212800-114214600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:114213000-114213600	Enhancers	Brain Hippocampus Middle	brain
13	chr8:114213000-114214600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:114213000-114214600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:114213000-114214600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:114213000-114214600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr8:114213400-114214600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr8:114213600-114214000	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:114214000-114214200	Enhancers	Brain Hippocampus Middle	brain
20	chr8:114214200-114214600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr8:114214200-114214600	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr8:114214400-114215000	Enhancers	Brain Substantia Nigra	brain
23	chr8:114228400-114228800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:114229000-114229200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:114244400-114244600	Enhancers	Dnd41	blood
26	chr8:114244600-114245200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:114244600-114245200	Flanking Active TSS	Dnd41	blood
28	chr8:114244800-114245000	Enhancers	Fetal Kidney	kidney
29	chr8:114245200-114246600	Enhancers	Dnd41	blood
30	chr8:114250800-114251200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr8:114250800-114251400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr8:114251000-114251400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr8:114251000-114251400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr8:114272000-114274400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:114287600-114288800	Enhancers	Fetal Muscle Leg	muscle
36	chr8:114288200-114288400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr8:114288200-114288800	Enhancers	Psoas Muscle	Psoas

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