Variant report

Variant	nsv398353
Chromosome Location	chr8:49021820-49023463
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	chr8:49022447..49025274-chr8:49027665..49030451,2	K562	blood:
2	chr8:49023203..49025595-chr8:49035479..49038549,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558706816	chr8:49021824-49021825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113111325	chr8:49021877-49021878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191897665	chr8:49021991-49021992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113456756	chr8:49022008-49022009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556438215	chr8:49022074-49022075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11988128	chr8:49022082-49022083	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs148088109	chr8:49022084-49022085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141191651	chr8:49022151-49022152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376269322	chr8:49022175-49022176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567450167	chr8:49022203-49022204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141890314	chr8:49022229-49022230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184084796	chr8:49022244-49022245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146103478	chr8:49022246-49022247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540301684	chr8:49022267-49022268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564768451	chr8:49022314-49022315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532130253	chr8:49022364-49022365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188572800	chr8:49022457-49022458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562730490	chr8:49022476-49022477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79127124	chr8:49022520-49022521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529928814	chr8:49022566-49022567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180929504	chr8:49022567-49022568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140121154	chr8:49022574-49022575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185924405	chr8:49022576-49022577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142174924	chr8:49022661-49022662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146370177	chr8:49022780-49022781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537802665	chr8:49022809-49022810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541941151	chr8:49022851-49022852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs80170517	chr8:49022852-49022853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190394934	chr8:49022908-49022909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568381365	chr8:49022918-49022919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556269287	chr8:49022919-49022920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535674847	chr8:49022949-49022950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554099858	chr8:49022985-49022986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576348067	chr8:49023061-49023062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376960413	chr8:49023062-49023063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572585479	chr8:49023116-49023117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7828917	chr8:49023162-49023163	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs558575101	chr8:49023165-49023166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6986362	chr8:49023180-49023181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs71527689	chr8:49023240-49023241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575746858	chr8:49023255-49023256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77851372	chr8:49023268-49023269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562790939	chr8:49023299-49023300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530042085	chr8:49023360-49023361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139390953	chr8:49023404-49023405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560126897	chr8:49023463-49023464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
22q11 deletion syndrome	20357662	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49018000-49022600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:49021400-49035800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:49021800-49022400	Enhancers	HSMM	muscle
4	chr8:49021800-49022600	Enhancers	NH-A	brain
5	chr8:49022000-49022400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:49022000-49022400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:49022000-49022400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:49022000-49022400	Enhancers	Hela-S3	cervix
9	chr8:49022000-49022400	Enhancers	HMEC	breast
10	chr8:49022000-49022400	Enhancers	HSMMtube	muscle
11	chr8:49022000-49022400	Enhancers	NHEK	skin
12	chr8:49022000-49022400	Enhancers	Osteobl	bone
13	chr8:49022000-49023000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:49022000-49023000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr8:49022200-49022400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:49022200-49022600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:49022400-49022600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:49022400-49022800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:49022600-49022800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:49022600-49023200	Weak transcription	NH-A	brain
21	chr8:49023200-49023400	Enhancers	NH-A	brain

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