Variant report

Variant	esv3480578
Chromosome Location	chr8:103441417-103441951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103422249..103427924-chr8:103438177..103442198,4	K562	blood:
2	chr8:103441212..103444184-chr8:103820683..103822944,2	MCF-7	breast:
3	chr8:103438828..103441825-chr8:103444770..103446415,2	K562	blood:
4	chr8:103435300..103437498-chr8:103439905..103442249,2	K562	blood:
5	chr8:103423416..103425186-chr8:103439057..103441485,2	MCF-7	breast:
6	chr8:103423490..103426708-chr8:103441384..103446993,7	MCF-7	breast:
7	chr8:103423711..103427199-chr8:103440627..103442250,3	K562	blood:

Variant related genes	Relation type
ENSG00000104517	chromatin interactions

Extended variants
information (count: 44 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529028697	chr8:103441470-103441471	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs201837958	chr8:103441485-103441486	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs200115722	chr8:103441498-103441499	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531378640	chr8:103441505-103441506	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113594094	chr8:103441530-103441531	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs188604558	chr8:103441541-103441542	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs181722429	chr8:103441563-103441564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs578200813	chr8:103441573-103441574	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs186947491	chr8:103441577-103441578	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs545650436	chr8:103441633-103441634	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs9773443	chr8:103441637-103441638	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs375263548	chr8:103441672-103441673	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs377535744	chr8:103441673-103441674	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs56194966	chr8:103441705-103441706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs200890845	chr8:103441706-103441707	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs202018359	chr8:103441707-103441708	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs200467621	chr8:103441708-103441709	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs201200584	chr8:103441710-103441711	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs531201946	chr8:103441716-103441717	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs564154520	chr8:103441723-103441724	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs371168874	chr8:103441731-103441732	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549654737	chr8:103441742-103441743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs13256348	chr8:103441765-103441766	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs373165752	chr8:103441782-103441783	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs62523131	chr8:103441786-103441787	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs62523132	chr8:103441791-103441792	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs76360489	chr8:103441797-103441798	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs80201380	chr8:103441798-103441799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs62523133	chr8:103441803-103441804	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs62523134	chr8:103441807-103441808	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs62523135	chr8:103441811-103441812	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs62523136	chr8:103441813-103441814	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs79867384	chr8:103441832-103441833	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs74504753	chr8:103441833-103441834	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs62523137	chr8:103441835-103441836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs62523138	chr8:103441837-103441838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs371027374	chr8:103441855-103441856	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs78762598	chr8:103441860-103441861	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs62523139	chr8:103441875-103441876	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs539236693	chr8:103441878-103441879	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs551129295	chr8:103441907-103441908	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs569514761	chr8:103441914-103441915	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs556824026	chr8:103441949-103441950	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs60833205	chr8:103441951-103441952	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:121)

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
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	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
Oral squamous cell carcinoma	21853135	CNVD
Autism	22495309	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103430600-103444400	Weak transcription	GM12878-XiMat	blood
2	chr8:103438600-103449200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:103440400-103442600	Weak transcription	HepG2	liver
4	chr8:103440400-103447000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:103440600-103442000	Weak transcription	K562	blood
6	chr8:103440600-103447000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:103441800-103442200	Enhancers	Primary hematopoietic stem cells	blood
8	chr8:103441800-103442400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:103441800-103442800	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr8:103441800-103443000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:103441800-103443000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:103441800-103443000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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