Variant report

Variant	esv3386988
Chromosome Location	chr8:90449786-90451984
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185919758	chr8:90449825-90449826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574848166	chr8:90449846-90449847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114159034	chr8:90449899-90449900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560597504	chr8:90449920-90449921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373848561	chr8:90449932-90449933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117376749	chr8:90449934-90449935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565157604	chr8:90450034-90450035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532383109	chr8:90450071-90450072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190687276	chr8:90450093-90450094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112634460	chr8:90450098-90450099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181823840	chr8:90450184-90450185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73696313	chr8:90450196-90450197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs12675158	chr8:90450211-90450212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs146818300	chr8:90450222-90450223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7837265	chr8:90450241-90450242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs139224093	chr8:90450247-90450248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186513490	chr8:90450275-90450276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573300507	chr8:90450276-90450277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7815913	chr8:90450307-90450308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs534909958	chr8:90450355-90450356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149386991	chr8:90450361-90450362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553484578	chr8:90450393-90450394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574845206	chr8:90450402-90450403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542349256	chr8:90450445-90450446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557173689	chr8:90450486-90450487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575738538	chr8:90450503-90450504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200436752	chr8:90450514-90450515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190952179	chr8:90450560-90450561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182714486	chr8:90450576-90450577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576390456	chr8:90450579-90450580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532422132	chr8:90450588-90450589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144728149	chr8:90450620-90450621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148520329	chr8:90450653-90450654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529842111	chr8:90450656-90450657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548292183	chr8:90450668-90450669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569634017	chr8:90450697-90450698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188227126	chr8:90450702-90450703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576589517	chr8:90450721-90450722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551725169	chr8:90450728-90450729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570813299	chr8:90450731-90450732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534945448	chr8:90450744-90450745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553379802	chr8:90450796-90450797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4961135	chr8:90450805-90450806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs141842443	chr8:90450814-90450815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112554942	chr8:90450817-90450818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376778070	chr8:90450827-90450828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547479828	chr8:90450876-90450877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139979110	chr8:90450908-90450909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546241747	chr8:90450921-90450922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558139678	chr8:90450922-90450923	Weak transcription	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
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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90448200-90451400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:90448600-90459400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:90451000-90451200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
4	chr8:90451000-90451200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:90451200-90451400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
6	chr8:90451200-90451400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:90451400-90452000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:90451600-90452000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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