Variant report

Variant	nsv465755
Chromosome Location	chr8:106107997-106121745
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:106110955..106112913-chr8:106113488..106116192,2	K562	blood:
2	chr8:106115361..106119364-chr8:106123346..106125677,3	K562	blood:
3	chr8:106112581..106114529-chr8:106145312..106148061,2	K562	blood:
4	chr8:106110955..106112913-chr8:106113488..106116192,2	K562	blood:
5	chr8:106102491..106104440-chr8:106106753..106108347,2	MCF-7	breast:
6	chr8:106110267..106112599-chr8:106425928..106428860,2	K562	blood:
7	chr8:106108103..106110619-chr8:106122748..106124588,2	MCF-7	breast:

Extended variants
information (count: 479 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:479 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2125984	chr8:106107997-106107998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535789091	chr8:106108041-106108042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs285816	chr8:106108064-106108065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577310797	chr8:106108065-106108066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529075023	chr8:106108091-106108092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548997379	chr8:106108138-106108139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374705753	chr8:106108161-106108162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562771841	chr8:106108162-106108163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74275445	chr8:106108164-106108165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374354723	chr8:106108166-106108167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556385434	chr8:106108167-106108168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76288786	chr8:106108168-106108169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78266115	chr8:106108169-106108170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs5893723	chr8:106108175-106108176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550808766	chr8:106108182-106108183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530088770	chr8:106108210-106108211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs16872376	chr8:106108258-106108259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs536998525	chr8:106108263-106108264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1460582	chr8:106108281-106108282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs142467516	chr8:106108284-106108285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs285815	chr8:106108303-106108304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537577095	chr8:106108350-106108351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539574504	chr8:106108400-106108401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186059038	chr8:106108411-106108412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144640303	chr8:106108429-106108430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535047533	chr8:106108459-106108460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553657418	chr8:106108467-106108468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs285814	chr8:106108484-106108485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs73300726	chr8:106108530-106108531	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1460583	chr8:106108593-106108594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs375838292	chr8:106108609-106108610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190524621	chr8:106108626-106108627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138903998	chr8:106108655-106108656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs16872382	chr8:106108691-106108692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs181056995	chr8:106108743-106108744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143753494	chr8:106108774-106108775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560489386	chr8:106108793-106108794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528032469	chr8:106108844-106108845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144779328	chr8:106108845-106108846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148178514	chr8:106108849-106108850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369310514	chr8:106108861-106108862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531903813	chr8:106108866-106108867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144094365	chr8:106108989-106108990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567774485	chr8:106108990-106108991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186406973	chr8:106108998-106108999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs627350	chr8:106109017-106109018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs147245866	chr8:106109053-106109054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533380435	chr8:106109070-106109071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6984403	chr8:106109112-106109113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs569767213	chr8:106109116-106109117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	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
Glioblastoma multiforme	18628472	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
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:106105400-106109800	Weak transcription	K562	blood
2	chr8:106109800-106111400	Enhancers	K562	blood
3	chr8:106110200-106110600	Enhancers	Fetal Brain Male	brain
4	chr8:106111400-106113200	Weak transcription	K562	blood
5	chr8:106111800-106112000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:106112000-106115000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:106112600-106113600	Enhancers	HUVEC	blood vessel
8	chr8:106112800-106113000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:106113000-106113400	Enhancers	NH-A	brain
10	chr8:106113200-106113400	Enhancers	K562	blood
11	chr8:106113600-106113800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:106113600-106118800	Weak transcription	HUVEC	blood vessel
13	chr8:106115000-106115200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:106118000-106119000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr8:106118000-106119800	Enhancers	Primary hematopoietic stem cells	blood
16	chr8:106118400-106119200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:106118400-106119600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:106118800-106119200	Enhancers	HUVEC	blood vessel

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