Variant report

Variant	esv3479710
Chromosome Location	chr8:103993376-103998574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:103983197..103984715-chr8:103998535..104001425,2	K562	blood:
2	chr8:103989692..103992041-chr8:103996933..103998764,2	MCF-7	breast:
3	chr8:103996495..103999134-chr8:104007444..104009301,2	MCF-7	breast:
4	chr8:103993356..103995449-chr8:103995905..103998523,2	MCF-7	breast:
5	chr8:103993083..103995018-chr8:103998506..104000574,2	MCF-7	breast:
6	chr8:103987556..103990076-chr8:103994687..103996398,2	K562	blood:
7	chr8:103876107..103878038-chr8:103994980..103997604,2	MCF-7	breast:
8	chr8:103984545..103986132-chr8:103993005..103995689,2	MCF-7	breast:
9	chr8:103993083..103995018-chr8:103998506..104000574,2	MCF-7	breast:
10	chr8:103993356..103995449-chr8:103995905..103998523,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253320	chromatin interactions
ENSG00000254281	chromatin interactions
ENSG00000155096	chromatin interactions

Extended variants
information (count: 222 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78483911	chr8:103993456-103993457	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs578011363	chr8:103993479-103993480	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs545497364	chr8:103993494-103993495	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs192363988	chr8:103993568-103993569	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs525817	chr8:103993578-103993579	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs183281411	chr8:103993607-103993608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553585697	chr8:103993621-103993622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188481221	chr8:103993640-103993641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192902473	chr8:103993682-103993683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149623308	chr8:103993701-103993702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559522250	chr8:103993798-103993799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374851146	chr8:103993800-103993801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73699362	chr8:103993802-103993803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs397892110	chr8:103993894-103993895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397892019	chr8:103993895-103993896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79043742	chr8:103993909-103993910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34814840	chr8:103993911-103993912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71574089	chr8:103993914-103993915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13257502	chr8:103993950-103993951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs142246862	chr8:103993960-103993961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542536102	chr8:103993978-103993979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549031812	chr8:103993983-103993984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567936567	chr8:103993994-103993995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185459876	chr8:103993995-103993996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537412011	chr8:103994021-103994022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372842871	chr8:103994043-103994044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578128771	chr8:103994050-103994051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575557728	chr8:103994054-103994055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538714098	chr8:103994081-103994082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13258117	chr8:103994129-103994130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs189473289	chr8:103994167-103994168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191844043	chr8:103994173-103994174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183656315	chr8:103994182-103994183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188313084	chr8:103994193-103994194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540944321	chr8:103994212-103994213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181769819	chr8:103994255-103994256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533147157	chr8:103994281-103994282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544915285	chr8:103994294-103994295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545627614	chr8:103994304-103994305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563380092	chr8:103994332-103994333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72667277	chr8:103994374-103994375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs548970148	chr8:103994376-103994377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139556048	chr8:103994414-103994415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528752996	chr8:103994426-103994427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547277796	chr8:103994495-103994496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs3018945	chr8:103994500-103994501	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs539214954	chr8:103994562-103994563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375781046	chr8:103994566-103994567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557309196	chr8:103994606-103994607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569314549	chr8:103994651-103994652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
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
Bladder cancer	21909424	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103990400-104011400	Weak transcription	Placenta	Placenta
2	chr8:103991200-103995800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:103992000-103993600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:103992200-103993400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr8:103992200-103993600	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr8:103992400-103993400	Enhancers	Spleen	Spleen
7	chr8:103992400-103993600	Enhancers	Primary B cells from peripheral blood	blood
8	chr8:103992800-103995800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:103993200-103993800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr8:103993200-103995800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:103993400-103993600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr8:103993400-104012400	Weak transcription	Spleen	Spleen
13	chr8:103993600-103993800	Enhancers	Primary B cells from cord blood	blood
14	chr8:103993600-103994800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr8:103993600-103995200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr8:103993600-103995800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr8:103993800-103995600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr8:103993800-103995600	Weak transcription	Primary B cells from cord blood	blood
19	chr8:103994800-103999200	Enhancers	Primary B cells from peripheral blood	blood
20	chr8:103995200-103996400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr8:103995600-103996000	Enhancers	Primary B cells from cord blood	blood
22	chr8:103995600-103996400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr8:103995800-103996400	Enhancers	Primary hematopoietic stem cells	blood
24	chr8:103995800-103996400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr8:103995800-103996400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr8:103995800-103999400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr8:103996000-104001400	Weak transcription	Primary B cells from cord blood	blood
28	chr8:103996400-104001400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:103996400-104001800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr8:103996400-104003200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr8:103996400-104003200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr8:103997000-103997600	Enhancers	HMEC	breast
33	chr8:103997200-103997600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:103998400-103999200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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