Variant report

Variant	nsv523612
Chromosome Location	chr8:124855776-124857300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 144 )

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	rs1431671	chr8:124855776-124855777	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577839136	chr8:124855787-124855788	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186568489	chr8:124855795-124855796	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190770027	chr8:124855807-124855808	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553692233	chr8:124855835-124855836	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183010518	chr8:124855906-124855907	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543268368	chr8:124855921-124855922	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550219119	chr8:124855929-124855930	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563082502	chr8:124855954-124855955	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs151335783	chr8:124856100-124856101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12543266	chr8:124856155-124856156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565024401	chr8:124856184-124856185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527746724	chr8:124856197-124856198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs16898956	chr8:124856199-124856200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs561288483	chr8:124856206-124856207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371271687	chr8:124856239-124856240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530049658	chr8:124856357-124856358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549249676	chr8:124856360-124856361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188709896	chr8:124856382-124856383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546930104	chr8:124856412-124856413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538014509	chr8:124856461-124856462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376322223	chr8:124856507-124856508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560817463	chr8:124856508-124856509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113408242	chr8:124856524-124856525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs397955125	chr8:124856532-124856533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs56780889	chr8:124856559-124856560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551634676	chr8:124856678-124856679	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150469282	chr8:124856710-124856711	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79064163	chr8:124856770-124856771	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375892303	chr8:124856776-124856777	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145355491	chr8:124856817-124856818	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562512822	chr8:124856862-124856863	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573574692	chr8:124856907-124856908	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142500669	chr8:124856913-124856914	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377649873	chr8:124856933-124856934	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71289615	chr8:124856944-124856945	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs59550691	chr8:124856974-124856975	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537219277	chr8:124856995-124856996	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531857028	chr8:124856997-124856998	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532209918	chr8:124857045-124857046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199778475	chr8:124857053-124857054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549666584	chr8:124857054-124857055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556420577	chr8:124857056-124857057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551565079	chr8:124857082-124857083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576363962	chr8:124857107-124857108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192612638	chr8:124857114-124857115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6987803	chr8:124857128-124857129	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs183352074	chr8:124857142-124857143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572308821	chr8:124857144-124857145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568948509	chr8:124857180-124857181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

Disease	PMID	Source
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
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	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	17603634	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
Acute myeloid leukemia	20729466	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
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian cancer	21240255	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124852800-124856800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:124853000-124856600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:124853400-124856600	Weak transcription	NHEK	skin
4	chr8:124853600-124856600	Weak transcription	HMEC	breast
5	chr8:124854200-124856000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:124855200-124855800	Enhancers	Fetal Intestine Large	intestine
7	chr8:124855200-124856000	Enhancers	Duodenum Mucosa	Duodenum
8	chr8:124855200-124856800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:124855400-124855800	Enhancers	Fetal Intestine Small	intestine
10	chr8:124855800-124856600	Weak transcription	Fetal Intestine Small	intestine
11	chr8:124856000-124856400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:124856000-124856600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:124856400-124856800	Enhancers	Duodenum Mucosa	Duodenum
14	chr8:124856600-124856800	Enhancers	Fetal Intestine Small	intestine
15	chr8:124856600-124857000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:124856600-124857400	Enhancers	Small Intestine	intestine
17	chr8:124856600-124857600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:124856600-124857600	Enhancers	HMEC	breast
19	chr8:124856600-124857600	Enhancers	NHEK	skin
20	chr8:124856800-124857600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:124856800-124857600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:124857000-124857200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:124857200-124857400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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