Variant report

Variant	esv9765
Chromosome Location	chr8:64059438-64065076
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	chr8:64059603..64061103-chr9:134109929..134112853,2	K562	blood:

Extended variants
information (count: 161 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563924292	chr8:64059488-64059489	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs528410282	chr8:64059521-64059522	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs9643558	chr8:64059527-64059528	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs372566143	chr8:64059530-64059531	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs565741433	chr8:64059534-64059535	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs114460721	chr8:64059537-64059538	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs548410771	chr8:64059550-64059551	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs570105637	chr8:64059555-64059556	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs144769662	chr8:64059602-64059603	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs559137407	chr8:64059620-64059621	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs386726166	chr8:64059629-64059630	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs188067626	chr8:64059630-64059631	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs576754702	chr8:64059653-64059654	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs9643384	chr8:64059658-64059659	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs574493343	chr8:64059660-64059661	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs541773819	chr8:64059686-64059687	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs556663356	chr8:64059691-64059692	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs575333198	chr8:64059738-64059739	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs138723658	chr8:64059763-64059764	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181312561	chr8:64059810-64059811	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs140264298	chr8:64059874-64059875	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs186320423	chr8:64059915-64059916	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs191235859	chr8:64059995-64059996	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs547113663	chr8:64061030-64061031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147069701	chr8:64061034-64061035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562311517	chr8:64061042-64061043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34803356	chr8:64061047-64061048	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs548106692	chr8:64061069-64061070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569423550	chr8:64061105-64061106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200560620	chr8:64061110-64061111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs58495822	chr8:64061117-64061118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200409118	chr8:64061118-64061119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75460180	chr8:64061120-64061121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555934437	chr8:64061132-64061133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140090767	chr8:64061146-64061147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186914439	chr8:64061216-64061217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12542182	chr8:64061227-64061228	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs191384046	chr8:64061241-64061242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533684258	chr8:64061264-64061265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555119422	chr8:64061285-64061286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541738857	chr8:64061295-64061296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183442209	chr8:64061372-64061373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34772043	chr8:64061373-64061374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556441627	chr8:64061425-64061426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs578019544	chr8:64061481-64061482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545313684	chr8:64061531-64061532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558231665	chr8:64061543-64061544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs59327883	chr8:64061555-64061556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs58136897	chr8:64061559-64061560	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs61143666	chr8:64061564-64061565	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

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
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	CNVD
Melanoma	22183965	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64058400-64059600	Enhancers	Placenta	Placenta
2	chr8:64058800-64060000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:64058800-64060000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:64058800-64060000	Enhancers	NHDF-Ad	bronchial
5	chr8:64058800-64060000	Enhancers	Osteobl	bone
6	chr8:64059000-64059600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:64059000-64060000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:64059000-64060000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:64059200-64059600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:64059200-64059600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:64059200-64059600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:64059200-64059600	Enhancers	Lung	lung
13	chr8:64059200-64059800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:64059200-64059800	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr8:64059200-64059800	Enhancers	Dnd41	blood
16	chr8:64059200-64060000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:64059200-64060000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr8:64059200-64060000	Enhancers	NHLF	lung
19	chr8:64059400-64059800	Enhancers	K562	blood
20	chr8:64059400-64060000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr8:64059400-64060000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:64059400-64060000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:64059400-64060000	Enhancers	Brain Hippocampus Middle	brain
24	chr8:64059400-64060000	Enhancers	HUVEC	blood vessel
25	chr8:64059400-64060000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr8:64059600-64059800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:64059600-64059800	Enhancers	HSMMtube	muscle
28	chr8:64059600-64060000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:64059600-64060000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:64059600-64060000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:64059800-64060000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:64059800-64060000	Enhancers	Adipose Nuclei	Adipose
33	chr8:64061000-64061600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:64061400-64061800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:64061800-64063200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:64063200-64063400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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