Variant report

Variant	nsv971259
Chromosome Location	chr8:115102650-115104752
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	chr8:114478442..114479179-chr8:115103168..115103714,3	MCF-7	breast:

Extended variants
information (count: 77 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188099477	chr8:115102653-115102654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs180908756	chr8:115102667-115102668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377526537	chr8:115102748-115102749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371008090	chr8:115102783-115102784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186404142	chr8:115102856-115102857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375450998	chr8:115102926-115102927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570176432	chr8:115102930-115102931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376811653	chr8:115103021-115103022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147610202	chr8:115103024-115103025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549447608	chr8:115103192-115103193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539683404	chr8:115103203-115103204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142013352	chr8:115103255-115103256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149078790	chr8:115103315-115103316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558038901	chr8:115103354-115103355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571423589	chr8:115103362-115103363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143140650	chr8:115103396-115103397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76040714	chr8:115103414-115103415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191209738	chr8:115103416-115103417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181627595	chr8:115103436-115103437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542310002	chr8:115103448-115103449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573731775	chr8:115103500-115103501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552733334	chr8:115103516-115103517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572804553	chr8:115103538-115103539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187101012	chr8:115103542-115103543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376841492	chr8:115103568-115103569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553661754	chr8:115103600-115103601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575008395	chr8:115103631-115103632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs80052379	chr8:115103650-115103651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533630547	chr8:115103653-115103654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs202201420	chr8:115103658-115103659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191633412	chr8:115103669-115103670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563871895	chr8:115103722-115103723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370440326	chr8:115103736-115103737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs151212085	chr8:115103754-115103755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373548492	chr8:115103778-115103779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140396383	chr8:115103787-115103788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565997120	chr8:115103818-115103819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183087009	chr8:115103846-115103847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs386728949	chr8:115103907-115103908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28609759	chr8:115103908-115103909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs564163686	chr8:115103921-115103922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556782655	chr8:115103947-115103948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373179812	chr8:115103973-115103974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553162166	chr8:115103982-115103983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187051897	chr8:115103997-115103998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551016359	chr8:115104013-115104014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189685034	chr8:115104063-115104064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78203777	chr8:115104112-115104113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558249287	chr8:115104188-115104189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578256530	chr8:115104239-115104240	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115102200-115103800	Enhancers	Dnd41	blood
2	chr8:115103400-115103600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:115103800-115104200	Weak transcription	Dnd41	blood
4	chr8:115104200-115105000	Enhancers	Dnd41	blood

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