Variant report

Variant	nsv972599
Chromosome Location	chr8:115568428-115580285
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	chr8:115561374..115563425-chr8:115568053..115569628,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554206270	chr8:115577409-115577410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529991222	chr8:115577426-115577427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548467564	chr8:115577433-115577434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569910496	chr8:115577439-115577440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537467689	chr8:115577443-115577444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs80298569	chr8:115577483-115577484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73343621	chr8:115577492-115577493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7009955	chr8:115577568-115577569	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs553188829	chr8:115577599-115577600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369254800	chr8:115577604-115577605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574786981	chr8:115577647-115577648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10955721	chr8:115577699-115577700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7821116	chr8:115577756-115577757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73705340	chr8:115577768-115577769	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs543435333	chr8:115577819-115577820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565356729	chr8:115577821-115577822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371017437	chr8:115577837-115577838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79289189	chr8:115577853-115577854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189039184	chr8:115577909-115577910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541211433	chr8:115577913-115577914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75258918	chr8:115577945-115577946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541225189	chr8:115577952-115577953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577901324	chr8:115577964-115577965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192094184	chr8:115577996-115577997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs80342329	chr8:115577998-115577999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541689711	chr8:115578016-115578017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143312542	chr8:115578058-115578059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147121056	chr8:115578073-115578074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530788291	chr8:115578076-115578077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552184162	chr8:115578088-115578089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558774085	chr8:115578092-115578093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79881662	chr8:115578110-115578111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76865541	chr8:115578117-115578118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552016090	chr8:115578131-115578132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536070853	chr8:115578143-115578144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147976832	chr8:115578145-115578146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566790720	chr8:115579866-115579867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139492472	chr8:115579928-115579929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141651262	chr8:115579930-115579931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138412350	chr8:115580007-115580008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10102547	chr8:115580011-115580012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs573960479	chr8:115580025-115580026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571866998	chr8:115580026-115580027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7005446	chr8:115580030-115580031	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs533543304	chr8:115580036-115580037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146240979	chr8:115580074-115580075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370173873	chr8:115580126-115580127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76139416	chr8:115580128-115580129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549412930	chr8:115580132-115580133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111973717	chr8:115580137-115580138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115577400-115578200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:115579800-115581600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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