Variant report

Variant	esv3339148
Chromosome Location	chr8:87004236-87005384
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	chr8:87002025..87006294-chr8:87012279..87016387,4	MCF-7	breast:
2	chr8:87002922..87004850-chr8:87023191..87025053,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1021171	chr8:87004250-87004251	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74606872	chr8:87004280-87004281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552654260	chr8:87004292-87004293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192558654	chr8:87004317-87004318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572502934	chr8:87004318-87004319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570965280	chr8:87004338-87004339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564609070	chr8:87004357-87004358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533708407	chr8:87004384-87004385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543774136	chr8:87004413-87004414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28567526	chr8:87004468-87004469	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529466340	chr8:87004514-87004515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549494630	chr8:87004521-87004522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149389121	chr8:87004546-87004547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558124705	chr8:87004654-87004655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs60868824	chr8:87004661-87004662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61565749	chr8:87004677-87004678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs58821102	chr8:87004688-87004689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs58966749	chr8:87004689-87004690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528476940	chr8:87004696-87004697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28566170	chr8:87004708-87004709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183136794	chr8:87004715-87004716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571571408	chr8:87004728-87004729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537320433	chr8:87004730-87004731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556986376	chr8:87004781-87004782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78002849	chr8:87004868-87004869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536091602	chr8:87004926-87004927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552641027	chr8:87004962-87004963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548319389	chr8:87004980-87004981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572636791	chr8:87004998-87004999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544583961	chr8:87005008-87005009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558498897	chr8:87005081-87005082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575140079	chr8:87005087-87005088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544045860	chr8:87005116-87005117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113109814	chr8:87005160-87005161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563873116	chr8:87005175-87005176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529499902	chr8:87005191-87005192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376933	chr8:87005194-87005195	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs559860308	chr8:87005197-87005198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192227890	chr8:87005208-87005209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551597820	chr8:87005216-87005217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144672950	chr8:87005256-87005257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373894832	chr8:87005260-87005261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530815973	chr8:87005268-87005269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185235410	chr8:87005322-87005323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567492153	chr8:87005377-87005378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	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
Chordoma	21215367	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86999600-87005200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:86999600-87005400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:87000000-87004400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:87002800-87007400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:87003200-87005800	Enhancers	Brain Anterior Caudate	brain
6	chr8:87003200-87005800	Enhancers	Brain Hippocampus Middle	brain
7	chr8:87003200-87008000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:87003400-87004600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:87003400-87004600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:87003400-87006000	Enhancers	Brain Cingulate Gyrus	brain
11	chr8:87003400-87006400	Enhancers	Brain Substantia Nigra	brain
12	chr8:87003600-87007800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:87003800-87006000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr8:87004000-87005000	Weak transcription	Brain Angular Gyrus	brain
15	chr8:87004200-87005200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:87004400-87016600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:87004600-87005000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:87004600-87005000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:87005000-87005800	Enhancers	Brain Angular Gyrus	brain
20	chr8:87005000-87006400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:87005000-87007800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:87005200-87005400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:87005200-87005800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:87005200-87006800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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