Variant report

Variant	nsv968538
Chromosome Location	chr8:111793793-111813462
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:111799556..111802962-chr8:111805139..111808019,3	MCF-7	breast:
2	chr8:111811884..111813878-chr8:111822855..111824615,2	K562	blood:
3	chr8:111799556..111802962-chr8:111805139..111808019,3	MCF-7	breast:

Extended variants
information (count: 867 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:867 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560225141	chr8:111793802-111793803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188360907	chr8:111793833-111793834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147784281	chr8:111793843-111793844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373268298	chr8:111793846-111793847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192411033	chr8:111793862-111793863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77821995	chr8:111793943-111793944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538512839	chr8:111793953-111793954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548627144	chr8:111793972-111793973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148828198	chr8:111794015-111794016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114177983	chr8:111794017-111794018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553862424	chr8:111794064-111794065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576651691	chr8:111794088-111794089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142495344	chr8:111794093-111794094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539581961	chr8:111794111-111794112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545412093	chr8:111794162-111794163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59269404	chr8:111794177-111794178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147556531	chr8:111794212-111794213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183805195	chr8:111794244-111794245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142660987	chr8:111794249-111794250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542080509	chr8:111794295-111794296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561852540	chr8:111794331-111794332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574737112	chr8:111794348-111794349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186851392	chr8:111794350-111794351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191316976	chr8:111794358-111794359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7461078	chr8:111794398-111794399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532457846	chr8:111794406-111794407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184188693	chr8:111794440-111794441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200370251	chr8:111794485-111794486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146901355	chr8:111794489-111794490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374818932	chr8:111794577-111794578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187020869	chr8:111794652-111794653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531831688	chr8:111794680-111794681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192682521	chr8:111794686-111794687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185479980	chr8:111794693-111794694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189909330	chr8:111794697-111794698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76155972	chr8:111794722-111794723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182546237	chr8:111794762-111794763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs59813875	chr8:111794811-111794812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs370555282	chr8:111794815-111794816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199592305	chr8:111794855-111794856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532415625	chr8:111794856-111794857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139289162	chr8:111794867-111794868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560922337	chr8:111794918-111794919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140525382	chr8:111794989-111794990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569800190	chr8:111794990-111794991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535301620	chr8:111795008-111795009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555591578	chr8:111795041-111795042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572250546	chr8:111795059-111795060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116464441	chr8:111795079-111795080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150431007	chr8:111795138-111795139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Glioblastoma multiforme	21080181	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
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
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111788600-111826200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:111802400-111802800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:111802800-111803200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:111803200-111804000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:111803200-111804400	Enhancers	Fetal Intestine Large	intestine
6	chr8:111803400-111804200	Enhancers	Fetal Intestine Small	intestine
7	chr8:111804000-111804400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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