Variant report

Variant	nsv1023258
Chromosome Location	chr8:50877934-50964286
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:50925829..50927969-chr8:50932438..50935189,2	MCF-7	breast:
2	chr8:50947214..50948091-chr8:51310516..51311364,3	MCF-7	breast:
3	chr8:50709168..50710848-chr8:50931158..50933465,2	MCF-7	breast:
4	chr8:50925829..50927969-chr8:50932438..50935189,2	MCF-7	breast:
5	chr8:50906818..50909515-chr8:50916418..50918690,2	K562	blood:
6	chr8:50906818..50909515-chr8:50916418..50918690,2	K562	blood:
7	chr8:50947077..50947745-chr8:51310573..51311162,2	MCF-7	breast:

Extended variants
information (count: 2800 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2800 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538603080	chr8:50878080-50878081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558110335	chr8:50878096-50878097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576392566	chr8:50878100-50878101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149808953	chr8:50878109-50878110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537516637	chr8:50878190-50878191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147892476	chr8:50878195-50878196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573846815	chr8:50878216-50878217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs318895	chr8:50878219-50878220	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs181257114	chr8:50878220-50878221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141752023	chr8:50878253-50878254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545408006	chr8:50878280-50878281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563281370	chr8:50878313-50878314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551566942	chr8:50878359-50878360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75890479	chr8:50878375-50878376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186506319	chr8:50878422-50878423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565187499	chr8:50878536-50878537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560969262	chr8:50878543-50878544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375646545	chr8:50878571-50878572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528235085	chr8:50878606-50878607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546813231	chr8:50878607-50878608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74649897	chr8:50878619-50878620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115149493	chr8:50878627-50878628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550614579	chr8:50878630-50878631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550848231	chr8:50878638-50878639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1486247	chr8:50878647-50878648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs537052194	chr8:50878680-50878681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370195858	chr8:50878687-50878688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145522408	chr8:50878700-50878701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556267885	chr8:50878749-50878750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553133210	chr8:50878785-50878786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147748667	chr8:50878812-50878813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546314636	chr8:50878818-50878819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs16914109	chr8:50878835-50878836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs114678569	chr8:50878853-50878854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190073513	chr8:50878857-50878858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149226988	chr8:50878866-50878867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560911745	chr8:50878871-50878872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528170826	chr8:50878879-50878880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs388045	chr8:50878916-50878917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs373937788	chr8:50878919-50878920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565037403	chr8:50878934-50878935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114331372	chr8:50878947-50878948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181728003	chr8:50878961-50878962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569064842	chr8:50878985-50878986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113387659	chr8:50878986-50878987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548964619	chr8:50878991-50878992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575794125	chr8:50878999-50879000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567351717	chr8:50879008-50879009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534780979	chr8:50879019-50879020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553068265	chr8:50879029-50879030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50875800-50882800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:50876000-50878400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:50876000-50889200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:50878200-50878400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr8:50878400-50882400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:50882400-50883000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr8:50882600-50883400	Enhancers	Fetal Brain Female	brain
8	chr8:50887000-50887600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:50887600-50890000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:50889200-50889600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:50889400-50889800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:50889600-50892000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:50889800-50890800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:50890000-50890200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:50890200-50893600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:50890800-50891000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:50890800-50891200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr8:50891600-50892400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:50891800-50892400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:50892000-50894000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:50892200-50892600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:50892200-50892600	Enhancers	Liver	Liver
23	chr8:50892200-50892600	Enhancers	Brain Germinal Matrix	brain
24	chr8:50892200-50893000	Enhancers	Fetal Brain Male	brain
25	chr8:50892600-50892800	Flanking Active TSS	Liver	Liver
26	chr8:50892600-50892800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr8:50892600-50893000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:50892600-50893000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:50892600-50893000	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr8:50892600-50893000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr8:50892800-50893000	Enhancers	Brain Anterior Caudate	brain
32	chr8:50892800-50893000	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr8:50892800-50893000	Enhancers	Fetal Intestine Small	intestine
34	chr8:50892800-50893000	Enhancers	HMEC	breast
35	chr8:50892800-50893200	Active TSS	Liver	Liver
36	chr8:50892800-50894000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:50892800-50894000	Enhancers	Fetal Intestine Large	intestine
38	chr8:50893000-50893200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr8:50893000-50893600	Weak transcription	Fetal Intestine Small	intestine
40	chr8:50893000-50894000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:50893000-50894000	Enhancers	Brain Germinal Matrix	brain
42	chr8:50893200-50893600	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr8:50893200-50894200	Enhancers	Liver	Liver
44	chr8:50893400-50894200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:50893600-50894000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:50893600-50894200	Enhancers	Fetal Intestine Small	intestine
47	chr8:50894000-50895400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:50894000-50898600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:50894200-50895400	Weak transcription	Liver	Liver
50	chr8:50895400-50896600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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