Variant report

Variant	nsv523056
Chromosome Location	chr8:107502431-107506303
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16874737	chr8:107502431-107502432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569188740	chr8:107502446-107502447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536013525	chr8:107502516-107502517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368438370	chr8:107502531-107502532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148049476	chr8:107502571-107502572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371449333	chr8:107502572-107502573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536545989	chr8:107502616-107502617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145100444	chr8:107502636-107502637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs80068356	chr8:107502659-107502660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556019456	chr8:107502672-107502673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533870067	chr8:107502703-107502704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558258622	chr8:107502712-107502713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576426687	chr8:107502736-107502737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112790932	chr8:107502752-107502753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35962351	chr8:107502768-107502769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555008393	chr8:107502835-107502836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543844341	chr8:107502857-107502858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2444321	chr8:107502893-107502894	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs538645321	chr8:107502916-107502917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575894605	chr8:107502924-107502925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542822515	chr8:107502938-107502939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2510829	chr8:107502955-107502956	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs181687522	chr8:107502965-107502966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540730258	chr8:107502971-107502972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565420597	chr8:107502984-107502985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532509648	chr8:107503035-107503036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550998901	chr8:107503080-107503081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72680913	chr8:107503089-107503090	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs3018081	chr8:107503090-107503091	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs575859210	chr8:107503091-107503092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566637431	chr8:107503092-107503093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76175850	chr8:107503119-107503120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551845552	chr8:107503188-107503189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570220635	chr8:107503236-107503237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537399759	chr8:107503247-107503248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146890580	chr8:107503274-107503275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575810320	chr8:107503316-107503317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536933479	chr8:107503332-107503333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140714925	chr8:107503342-107503343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540840829	chr8:107503396-107503397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532537114	chr8:107503438-107503439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145848561	chr8:107503440-107503441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138151064	chr8:107503552-107503553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544583510	chr8:107503579-107503580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562884858	chr8:107503587-107503588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76595317	chr8:107503593-107503594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543716438	chr8:107503646-107503647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559385677	chr8:107503696-107503697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188663049	chr8:107503699-107503700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560227529	chr8:107503730-107503731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	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
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
small cell lung cancer	20016488	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
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107475400-107511600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:107502800-107503400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:107503000-107503400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:107503000-107503400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:107503400-107503800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:107503600-107513400	Weak transcription	Spleen	Spleen
7	chr8:107503800-107504000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:107504000-107513400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:107504200-107507000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:107505200-107505800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:107505800-107513400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:107506200-107511600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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