Variant report

Variant	nsv527243
Chromosome Location	chr8:89217541-89227970
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:89208118..89210006-chr8:89216241..89218835,2	MCF-7	breast:
2	chr8:89212012..89214095-chr8:89216731..89219442,2	MCF-7	breast:
3	chr8:89225567..89226115-chr8:89241468..89242188,2	MCF-7	breast:

Extended variants
information (count: 413 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6469296	chr8:89217541-89217542	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181666135	chr8:89217556-89217557	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs113112853	chr8:89217562-89217563	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs528306093	chr8:89217575-89217576	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs28904637	chr8:89217597-89217598	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs542566698	chr8:89217603-89217604	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs563656106	chr8:89217657-89217658	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs575722908	chr8:89217663-89217664	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs546248744	chr8:89217691-89217692	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs939278	chr8:89217711-89217712	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532291166	chr8:89217714-89217715	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs10504848	chr8:89217739-89217740	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs559152174	chr8:89217765-89217766	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs529925662	chr8:89217772-89217773	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs28904636	chr8:89217783-89217784	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs548097354	chr8:89217822-89217823	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs187240789	chr8:89217825-89217826	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs190328556	chr8:89217831-89217832	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs143309474	chr8:89217873-89217874	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs570445035	chr8:89217952-89217953	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs373679790	chr8:89218035-89218036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146693025	chr8:89218036-89218037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148837073	chr8:89218050-89218051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143422334	chr8:89218167-89218168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536121092	chr8:89218173-89218174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10504847	chr8:89218210-89218211	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs182504355	chr8:89218231-89218232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545884440	chr8:89218273-89218274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550316413	chr8:89218297-89218298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200372845	chr8:89218298-89218299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141805920	chr8:89218300-89218301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371971323	chr8:89218301-89218302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564542115	chr8:89218313-89218314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75083728	chr8:89218363-89218364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199681070	chr8:89218367-89218368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375584553	chr8:89218428-89218429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573237734	chr8:89218447-89218448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540757618	chr8:89218450-89218451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs151328117	chr8:89218451-89218452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140585246	chr8:89218456-89218457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1519932	chr8:89218480-89218481	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs185943539	chr8:89218486-89218487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563251919	chr8:89218493-89218494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534934969	chr8:89218565-89218566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553525589	chr8:89218567-89218568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551882938	chr8:89218603-89218604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570456097	chr8:89218615-89218616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534404549	chr8:89218654-89218655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546732340	chr8:89218664-89218665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568640348	chr8:89218670-89218671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	22237106	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
Acute lymphoblastic leukemia	18458336	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89195000-89219200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr8:89201200-89218000	Weak transcription	Fetal Lung	lung
3	chr8:89204000-89219600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:89214800-89219800	Weak transcription	Fetal Intestine Large	intestine
5	chr8:89215200-89219400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:89215200-89227600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:89215600-89219200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr8:89215800-89218200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:89215800-89218200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:89216200-89218800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:89216400-89217800	Enhancers	Brain Germinal Matrix	brain
12	chr8:89216600-89217600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:89217000-89217600	Enhancers	Brain Hippocampus Middle	brain
14	chr8:89217000-89218000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:89217000-89218200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:89217000-89218200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:89217000-89218800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:89217000-89218800	Enhancers	Osteobl	bone
19	chr8:89217200-89217800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:89217200-89217800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:89217200-89217800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:89217200-89217800	Enhancers	Fetal Brain Male	brain
23	chr8:89217200-89217800	Enhancers	Fetal Kidney	kidney
24	chr8:89217200-89218000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr8:89217200-89218000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:89217200-89218000	Enhancers	Fetal Brain Female	brain
27	chr8:89217200-89218200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:89217200-89218200	Enhancers	NH-A	brain
29	chr8:89217400-89217800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr8:89217400-89217800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:89217400-89217800	Enhancers	Brain Angular Gyrus	brain
32	chr8:89217600-89217800	Enhancers	H9 Cell Line	embryonic stem cell
33	chr8:89217600-89218000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr8:89217800-89218000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr8:89217800-89219600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr8:89217800-89219600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:89217800-89222400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:89217800-89231400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr8:89218000-89218200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:89218000-89218200	Enhancers	Fetal Lung	lung
41	chr8:89218000-89218400	Weak transcription	Fetal Brain Female	brain
42	chr8:89218000-89219400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr8:89218000-89219400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:89218200-89219400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:89218200-89222000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:89218200-89223800	Weak transcription	NH-A	brain
47	chr8:89218400-89218800	Enhancers	Fetal Brain Female	brain
48	chr8:89218600-89218800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:89218800-89224200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:89219200-89220000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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