Variant report

Variant	nsv1031057
Chromosome Location	chr8:51954841-52024891
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	chr8:51957221..51959868-chr8:51967147..51969241,2	MCF-7	breast:
2	chr8:51957221..51959868-chr8:51967147..51969241,2	MCF-7	breast:

Extended variants
information (count: 791 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:791 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373159656	chr8:51955810-51955811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564574324	chr8:51955815-51955816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150363115	chr8:51955825-51955826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72649684	chr8:51955861-51955862	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs544020595	chr8:51955878-51955879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562157865	chr8:51955886-51955887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377456671	chr8:51955911-51955912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78607171	chr8:51955917-51955918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183412102	chr8:51955983-51955984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145217452	chr8:51956064-51956065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187645099	chr8:51956079-51956080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148716645	chr8:51956087-51956088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192179309	chr8:51956098-51956099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527316619	chr8:51956115-51956116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557050899	chr8:51956154-51956155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183208150	chr8:51956179-51956180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534568761	chr8:51956183-51956184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187989072	chr8:51956192-51956193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192200133	chr8:51956199-51956200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117681274	chr8:51956203-51956204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563516088	chr8:51956215-51956216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369818552	chr8:51956236-51956237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201675235	chr8:51956237-51956238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556101521	chr8:51956253-51956254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142368649	chr8:51956282-51956283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111311056	chr8:51956312-51956313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560029548	chr8:51956313-51956314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562026205	chr8:51956333-51956334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529303774	chr8:51956350-51956351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184623871	chr8:51956351-51956352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559619533	chr8:51956357-51956358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533404659	chr8:51956363-51956364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551647244	chr8:51956390-51956391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189491731	chr8:51956418-51956419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375365323	chr8:51956427-51956428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530997985	chr8:51956448-51956449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549080262	chr8:51956484-51956485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376424034	chr8:51956487-51956488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567223901	chr8:51956488-51956489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528759841	chr8:51956524-51956525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552964712	chr8:51956556-51956557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs193007167	chr8:51956565-51956566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113115513	chr8:51956569-51956570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556953531	chr8:51956570-51956571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140483605	chr8:51956584-51956585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145797067	chr8:51956589-51956590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184304862	chr8:51956591-51956592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574000826	chr8:51956625-51956626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541034310	chr8:51956674-51956675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188782227	chr8:51956706-51956707	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Lung cancer	18438408	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
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
22q11 deletion syndrome	20357662	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51955800-51957600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:51956000-51957800	Enhancers	NH-A	brain
3	chr8:51956600-51957800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:51959000-51959600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:51966400-51966600	Enhancers	Esophagus	oesophagus
6	chr8:51966400-51968600	Weak transcription	Gastric	stomach
7	chr8:51968600-51968800	ZNF genes & repeats	Gastric	stomach
8	chr8:51968600-51968800	ZNF genes & repeats	Pancreas	Pancrea
9	chr8:51971400-51972400	Enhancers	Dnd41	blood
10	chr8:51971800-51972200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr8:51971800-51972200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:51972000-51972400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:51972000-51972400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr8:51986000-51986400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr8:51990600-51991000	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr8:51997000-51997600	Enhancers	NH-A	brain
17	chr8:51997600-52002400	Weak transcription	NH-A	brain
18	chr8:52001400-52001600	Enhancers	Fetal Lung	lung
19	chr8:52001800-52003000	Weak transcription	Fetal Lung	lung
20	chr8:52002000-52002400	Enhancers	NHDF-Ad	bronchial
21	chr8:52002200-52004800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:52002400-52003200	Enhancers	NH-A	brain
23	chr8:52002800-52003200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:52003000-52003400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr8:52003000-52003400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:52003000-52004200	Enhancers	Fetal Lung	lung
27	chr8:52003000-52004600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:52003200-52007400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:52003400-52004800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr8:52003600-52003800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:52003600-52004000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr8:52003800-52004000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:52003800-52004200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:52004000-52004200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
35	chr8:52004000-52004400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:52004000-52005000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:52004200-52004800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:52004200-52004800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr8:52007400-52008200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:52008200-52008400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:52017800-52018000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr8:52019600-52020000	Active TSS	Hela-S3	cervix

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