Variant report

Variant	nsv972253
Chromosome Location	chr8:113125323-113135384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:113121132..113122642-chr8:113123330..113125697,2	MCF-7	breast:
2	chr8:113123396..113125846-chr8:113130246..113132854,2	MCF-7	breast:
3	chr8:113123396..113125846-chr8:113130246..113132854,2	MCF-7	breast:

Extended variants
information (count: 96 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530107543	chr8:113127249-113127250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546997100	chr8:113127305-113127306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566828136	chr8:113127321-113127322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539352577	chr8:113127355-113127356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559334866	chr8:113127376-113127377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569569247	chr8:113127460-113127461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538461947	chr8:113127479-113127480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554849355	chr8:113127495-113127496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557952366	chr8:113127516-113127517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147784558	chr8:113127521-113127522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539921610	chr8:113127526-113127527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553354193	chr8:113127548-113127549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576387023	chr8:113127550-113127551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10955613	chr8:113127561-113127562	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs562486889	chr8:113127568-113127569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182137672	chr8:113127573-113127574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369753935	chr8:113127613-113127614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186785273	chr8:113127615-113127616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561707060	chr8:113127619-113127620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75806598	chr8:113127621-113127622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560561197	chr8:113127643-113127644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532598838	chr8:113127664-113127665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10441493	chr8:113127712-113127713	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs569605942	chr8:113127813-113127814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143424560	chr8:113127834-113127835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567704937	chr8:113127880-113127881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190444601	chr8:113127913-113127914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376130416	chr8:113127963-113127964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536617783	chr8:113127967-113127968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568513896	chr8:113128040-113128041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114301730	chr8:113128064-113128065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369599341	chr8:113128092-113128093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576525088	chr8:113128093-113128094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181987191	chr8:113128179-113128180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186322489	chr8:113128180-113128181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189980416	chr8:113128186-113128187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570963433	chr8:113128191-113128192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541713866	chr8:113128221-113128222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561931379	chr8:113128258-113128259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71528407	chr8:113128375-113128376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182475784	chr8:113128417-113128418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11996043	chr8:113128436-113128437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs556860169	chr8:113128437-113128438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560596770	chr8:113128447-113128448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532636723	chr8:113128497-113128498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552619439	chr8:113128509-113128510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562842051	chr8:113128643-113128644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570367440	chr8:113128680-113128681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532035086	chr8:113128690-113128691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148168133	chr8:113128716-113128717	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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113127200-113127800	Enhancers	HMEC	breast
2	chr8:113127400-113127800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:113127800-113130400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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