Variant report

Variant	esv3479775
Chromosome Location	chr8:107857247-107862220
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:107858296..107858832-chr8:107965934..107966511,2	MCF-7	breast:
2	chr8:107857881..107858812-chr8:108543880..108545134,4	MCF-7	breast:
3	chr8:107858278..107858789-chr8:108024820..108025365,2	MCF-7	breast:
4	chr8:107716434..107716966-chr8:107858248..107858913,2	MCF-7	breast:
5	chr8:107857692..107858790-chr8:108507689..108508327,3	MCF-7	breast:
6	chr8:107775088..107775609-chr8:107857855..107858702,2	MCF-7	breast:
7	chr8:107857946..107858782-chr8:107868419..107869393,13	MCF-7	breast:
8	chr8:107857830..107858766-chr8:107868427..107868948,2	MCF-7	breast:
9	chr8:107776572..107779204-chr8:107860586..107863485,2	K562	blood:
10	chr8:107777209..107777910-chr8:107857636..107858793,3	MCF-7	breast:
11	chr8:107858176..107858696-chr8:108791740..108792288,2	MCF-7	breast:

No data

Extended variants
information (count: 170 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:170 , 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	rs147526183	chr8:107857248-107857249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2346673	chr8:107857263-107857264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563852354	chr8:107857264-107857265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531265582	chr8:107857267-107857268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187563072	chr8:107857332-107857333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561572732	chr8:107857355-107857356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528869680	chr8:107857366-107857367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140194075	chr8:107857386-107857387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192495077	chr8:107857408-107857409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183321156	chr8:107857409-107857410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552766374	chr8:107857415-107857416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570963297	chr8:107857451-107857452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372671088	chr8:107857462-107857463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538003930	chr8:107857470-107857471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556611349	chr8:107857474-107857475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568396701	chr8:107857499-107857500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs730478	chr8:107857617-107857618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs187762495	chr8:107857621-107857622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571973993	chr8:107857663-107857664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192249852	chr8:107857664-107857665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554408482	chr8:107857669-107857670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184360141	chr8:107857693-107857694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575829336	chr8:107857736-107857737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574534811	chr8:107857886-107857887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145712339	chr8:107857924-107857925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56689764	chr8:107857932-107857933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58343909	chr8:107857934-107857935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145339241	chr8:107857953-107857954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563548569	chr8:107858013-107858014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148779673	chr8:107858048-107858049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540992439	chr8:107858086-107858087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532465671	chr8:107858122-107858123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74390692	chr8:107858123-107858124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560778450	chr8:107858124-107858125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111400226	chr8:107858157-107858158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142320330	chr8:107858168-107858169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187221645	chr8:107858221-107858222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571097595	chr8:107858265-107858266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531918787	chr8:107858277-107858278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550036167	chr8:107858327-107858328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200749923	chr8:107858347-107858348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546155800	chr8:107858381-107858382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535495752	chr8:107858402-107858403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553708470	chr8:107858456-107858457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565640957	chr8:107858492-107858493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539395671	chr8:107858563-107858564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557618526	chr8:107858565-107858566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565260522	chr8:107858587-107858588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576189718	chr8:107858681-107858682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78929937	chr8:107858684-107858685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Multiple myeloma	17550852	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107852400-107865800	Weak transcription	NHDF-Ad	bronchial

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