Variant report

Variant	nsv523752
Chromosome Location	chr8:114475053-114509172
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: 70 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192031360	chr8:114475603-114475604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534918285	chr8:114475608-114475609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551460744	chr8:114475613-114475614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536608564	chr8:114475635-114475636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571448793	chr8:114475759-114475760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150919495	chr8:114475761-114475762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556918122	chr8:114475802-114475803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35123534	chr8:114475827-114475828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538471816	chr8:114475832-114475833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73701434	chr8:114475902-114475903	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs573825922	chr8:114475910-114475911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2954894	chr8:114475912-114475913	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs531536107	chr8:114475933-114475934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140732237	chr8:114475971-114475972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532162107	chr8:114491808-114491809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75924015	chr8:114491809-114491810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542589544	chr8:114491890-114491891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149143893	chr8:114491911-114491912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531290483	chr8:114491952-114491953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547912087	chr8:114491967-114491968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567717524	chr8:114491976-114491977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562483103	chr8:114492175-114492176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557134622	chr8:114496024-114496025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs573641690	chr8:114496074-114496075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs542649314	chr8:114496090-114496091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs181146502	chr8:114496102-114496103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs117018760	chr8:114496145-114496146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs541741324	chr8:114496149-114496150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs117306966	chr8:114496173-114496174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs533393357	chr8:114496197-114496198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs372102400	chr8:114496224-114496225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs549851716	chr8:114496279-114496280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs544676474	chr8:114496314-114496315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs148664678	chr8:114496321-114496322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs2942845	chr8:114496330-114496331	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs565930617	chr8:114496345-114496346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs534592424	chr8:114496431-114496432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs11989277	chr8:114496466-114496467	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs571458951	chr8:114496482-114496483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs118003047	chr8:114496538-114496539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs540756737	chr8:114496545-114496546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs557050807	chr8:114496558-114496559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs369161964	chr8:114496595-114496596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs527924268	chr8:114501800-114501801	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs182406401	chr8:114501801-114501802	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs147864603	chr8:114501802-114501803	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs533131825	chr8:114501815-114501816	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs549782161	chr8:114501820-114501821	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs62522269	chr8:114501831-114501832	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs529155394	chr8:114501866-114501867	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114475600-114476000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr8:114491800-114492400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr8:114496000-114496600	ZNF genes & repeats	Dnd41	blood
4	chr8:114501800-114502000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:114501800-114502400	ZNF genes & repeats	Pancreas	Pancrea

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