Variant report

Variant	nsv984552
Chromosome Location	chr8:115733858-115791684
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	chr8:115777295..115780044-chr8:115780292..115782239,2	MCF-7	breast:
2	chr8:115777295..115780044-chr8:115780292..115782239,2	MCF-7	breast:

Extended variants
information (count: 597 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:597 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532310833	chr8:115736047-115736048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547632030	chr8:115736056-115736057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559216156	chr8:115736060-115736061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79519262	chr8:115736063-115736064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548160515	chr8:115736086-115736087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569828422	chr8:115736087-115736088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537522698	chr8:115736109-115736110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190042690	chr8:115736157-115736158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543033487	chr8:115736271-115736272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570985001	chr8:115736275-115736276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534896728	chr8:115736308-115736309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368856228	chr8:115736316-115736317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553748341	chr8:115736381-115736382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568747886	chr8:115736485-115736486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138219520	chr8:115736555-115736556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554571540	chr8:115736561-115736562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576227169	chr8:115736581-115736582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373938036	chr8:115736604-115736605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142952682	chr8:115736681-115736682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561060831	chr8:115736715-115736716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558485415	chr8:115736749-115736750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs16886342	chr8:115736762-115736763	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540866515	chr8:115736768-115736769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192851754	chr8:115736781-115736782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529903153	chr8:115736788-115736789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117275845	chr8:115736815-115736816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7824902	chr8:115736826-115736827	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs530916945	chr8:115736903-115736904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552679397	chr8:115736915-115736916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570852101	chr8:115736928-115736929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528711703	chr8:115736941-115736942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7846703	chr8:115736953-115736954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs147460587	chr8:115736982-115736983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536127584	chr8:115736992-115736993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554608330	chr8:115737013-115737014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112945258	chr8:115737020-115737021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184120649	chr8:115737026-115737027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536636666	chr8:115737047-115737048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558667982	chr8:115737051-115737052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576844555	chr8:115737133-115737134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114333719	chr8:115737156-115737157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376148698	chr8:115737159-115737160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370516192	chr8:115737195-115737196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552720420	chr8:115737211-115737212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138387834	chr8:115737243-115737244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141905402	chr8:115737252-115737253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112332527	chr8:115737253-115737254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530981375	chr8:115737259-115737260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs578259801	chr8:115737291-115737292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545853945	chr8:115737375-115737376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115736000-115738200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr8:115740600-115741800	Enhancers	Dnd41	blood
3	chr8:115758200-115758600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:115758600-115758800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:115758800-115767200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:115761800-115762000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr8:115767200-115767600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:115767200-115768000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:115767400-115767800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr8:115768600-115769200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr8:115778600-115779200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:115778800-115779400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:115779000-115779800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:115779200-115779600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:115779600-115779800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:115780000-115780600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:115781000-115781200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:115784000-115784400	Enhancers	Pancreatic Islets	Pancreatic Islet

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