Variant report

Variant	esv2027303
Chromosome Location	chr8:110510118-110510820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:110506183..110508052-chr8:110509587..110512256,2	MCF-7	breast:
2	chr8:110510297..110513160-chr8:110550256..110552818,2	MCF-7	breast:
3	chr8:110492411..110494617-chr8:110510142..110512481,2	MCF-7	breast:
4	chr10:133996695..133999397-chr8:110508706..110510962,2	MCF-7	breast:
5	chr8:110510174..110512174-chr8:110514390..110516726,2	K562	blood:

Variant related genes	Relation type
ENSG00000147654	chromatin interactions
ENSG00000205038	chromatin interactions
ENSG00000235010	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182129726	chr8:110510136-110510137	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs556873372	chr8:110510140-110510141	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs73704043	chr8:110510177-110510178	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs565758084	chr8:110510266-110510267	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs534652870	chr8:110510282-110510283	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs371183312	chr8:110510321-110510322	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs374079847	chr8:110510322-110510323	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs71305953	chr8:110510341-110510342	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs538830109	chr8:110510361-110510362	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs557839282	chr8:110510379-110510380	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs559109981	chr8:110510410-110510411	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs537531047	chr8:110510485-110510486	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs556121051	chr8:110510499-110510500	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs576153520	chr8:110510523-110510524	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs572005376	chr8:110510545-110510546	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs112856974	chr8:110510566-110510567	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs201041834	chr8:110510581-110510582	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs540721593	chr8:110510622-110510623	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs542168887	chr8:110510625-110510626	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs555655409	chr8:110510626-110510627	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs572082478	chr8:110510627-110510628	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs541071678	chr8:110510628-110510629	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs564066076	chr8:110510629-110510630	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs62508144	chr8:110510633-110510634	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs532910688	chr8:110510650-110510651	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs376698827	chr8:110510692-110510693	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs370588401	chr8:110510718-110510719	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs372811015	chr8:110510719-110510720	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs375850926	chr8:110510736-110510737	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs543487591	chr8:110510766-110510767	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs370152942	chr8:110510781-110510782	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs201721695	chr8:110510782-110510783	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs199982637	chr8:110510795-110510796	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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