Variant report

Variant	esv1006039
Chromosome Location	chr8:104745611-104750214
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	chr8:104743578..104746366-chr8:104850562..104852929,2	K562	blood:

Extended variants
information (count: 180 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:180 , 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	rs147035323	chr8:104745669-104745670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148074275	chr8:104745701-104745702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77529223	chr8:104745718-104745719	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
4	rs141844441	chr8:104745740-104745741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559102013	chr8:104745776-104745777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113760168	chr8:104745787-104745788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566016215	chr8:104745809-104745810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75931837	chr8:104745854-104745855	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
9	rs557717173	chr8:104745915-104745916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs193239147	chr8:104745917-104745918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576177855	chr8:104745939-104745940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536806269	chr8:104745947-104745948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555444789	chr8:104745962-104745963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150209848	chr8:104746031-104746032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562404127	chr8:104746036-104746037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375639806	chr8:104746079-104746080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558899743	chr8:104746085-104746086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185722523	chr8:104746100-104746101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577964122	chr8:104746121-104746122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545673492	chr8:104746203-104746204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138836574	chr8:104746226-104746227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59348302	chr8:104746267-104746268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76493959	chr8:104746270-104746271	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
24	rs77198979	chr8:104746272-104746273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531134863	chr8:104746282-104746283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190222689	chr8:104746327-104746328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28697136	chr8:104746351-104746352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564527356	chr8:104746389-104746390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181729586	chr8:104746390-104746391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185541408	chr8:104746460-104746461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112990563	chr8:104746484-104746485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553747360	chr8:104746518-104746519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369609049	chr8:104746546-104746547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7459857	chr8:104746563-104746564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1184408	chr8:104746571-104746572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1426289	chr8:104746578-104746579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375630439	chr8:104746616-104746617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4333556	chr8:104746639-104746640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs4541867	chr8:104746645-104746646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs200420002	chr8:104746688-104746689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148688078	chr8:104746701-104746702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537274551	chr8:104746703-104746704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376025455	chr8:104746713-104746714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539989556	chr8:104746720-104746721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534408679	chr8:104746766-104746767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552591039	chr8:104746773-104746774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146012095	chr8:104746780-104746781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76990114	chr8:104746795-104746796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139971018	chr8:104746797-104746798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575812068	chr8:104746930-104746931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104743600-104749600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:104744000-104752000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:104746400-104747800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:104747000-104747200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:104747200-104753800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:104747800-104748000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:104749600-104750000	Enhancers	NHEK	skin
8	chr8:104749600-104750200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr8:104749600-104750200	Enhancers	HUVEC	blood vessel
10	chr8:104749600-104750400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:104749800-104750200	Enhancers	HMEC	breast
12	chr8:104750200-104751800	Weak transcription	HUVEC	blood vessel

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