Variant report

Variant	esv2752270
Chromosome Location	chr8:96450447-96459194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:96430126..96432297-chr8:96457329..96459845,2	K562	blood:
2	chr8:96448397..96451100-chr8:96451208..96454533,3	MCF-7	breast:
3	chr8:96448397..96451100-chr8:96451208..96454533,3	MCF-7	breast:

Extended variants
information (count: 112 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3133757	chr8:96451633-96451634	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs3104910	chr8:96451654-96451655	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs35537230	chr8:96451666-96451667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529936313	chr8:96451669-96451670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550091145	chr8:96451680-96451681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146372143	chr8:96451701-96451702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3133758	chr8:96451717-96451718	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs558287706	chr8:96451722-96451723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565744297	chr8:96451740-96451741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534521793	chr8:96453820-96453821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570537841	chr8:96453832-96453833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533305264	chr8:96453894-96453895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191168169	chr8:96453899-96453900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566787049	chr8:96453903-96453904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535776925	chr8:96454121-96454122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555317497	chr8:96454129-96454130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554705663	chr8:96454320-96454321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139938316	chr8:96454359-96454360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9297958	chr8:96454382-96454383	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs10088272	chr8:96454385-96454386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201450481	chr8:96454434-96454435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs578050813	chr8:96454453-96454454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9297959	chr8:96454506-96454507	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs144878483	chr8:96454532-96454533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573152963	chr8:96454550-96454551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73697805	chr8:96454564-96454565	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs367969616	chr8:96454574-96454575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373337892	chr8:96454583-96454584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376460227	chr8:96454584-96454585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113784999	chr8:96454657-96454658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530388645	chr8:96454729-96454730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182957198	chr8:96454740-96454741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7001207	chr8:96454743-96454744	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
34	rs532877367	chr8:96454779-96454780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145856138	chr8:96454786-96454787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577289711	chr8:96454828-96454829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529539228	chr8:96454834-96454835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186604854	chr8:96454839-96454840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10105331	chr8:96454849-96454850	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs554772083	chr8:96454883-96454884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551768639	chr8:96454888-96454889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34419718	chr8:96454908-96454909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546192555	chr8:96454924-96454925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192558514	chr8:96455003-96455004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559901723	chr8:96455016-96455017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534318675	chr8:96455017-96455018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147835026	chr8:96455021-96455022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573118083	chr8:96455031-96455032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569778311	chr8:96455048-96455049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs3133763	chr8:96455051-96455052	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:109)

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
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
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
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
Multiple myeloma	16461302	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
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
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD
Malignant melanoma	17260012	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96451600-96451800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:96453800-96454800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:96453800-96455400	Enhancers	HUVEC	blood vessel
4	chr8:96454200-96454800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:96454200-96454800	Enhancers	Osteobl	bone
6	chr8:96454400-96454800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr8:96454800-96456200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:96455000-96456000	Enhancers	Right Ventricle	heart
9	chr8:96455800-96456800	Enhancers	Fetal Heart	heart
10	chr8:96456200-96456400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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