Variant report

Variant	esv2554092
Chromosome Location	chr8:110509394-110511181
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr8:110509283-110509500	MCF10A-Er-Src	breast:	n/a	n/a
2	E2F4	chr8:110511121-110511185	MCF10A-Er-Src	breast:	n/a	n/a
3	EGR1	chr8:110509824-110510019	K562	blood:	n/a	n/a
4	POLR2A	chr8:110509371-110509423	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
PKHD1L1	TF binding region
ENSG00000205038	chromatin interactions
ENSG00000147654	chromatin interactions
ENSG00000235010	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201194016	chr8:110509462-110509463	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs369795858	chr8:110509488-110509489	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs373729743	chr8:110509527-110509528	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs34137189	chr8:110509531-110509532	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs77381429	chr8:110509565-110509566	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540413319	chr8:110509571-110509572	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs79722179	chr8:110509573-110509574	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs72408989	chr8:110509584-110509585	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs61314588	chr8:110509586-110509587	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570292078	chr8:110509608-110509609	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs191725553	chr8:110509622-110509623	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs71564043	chr8:110509633-110509634	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs563273597	chr8:110509637-110509638	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs555368385	chr8:110509638-110509639	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs369263370	chr8:110509658-110509659	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs139411634	chr8:110509659-110509660	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs555125487	chr8:110509660-110509661	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11475834	chr8:110509679-110509680	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375584631	chr8:110509690-110509691	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs114820709	chr8:110509754-110509755	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs182038536	chr8:110509765-110509766	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs1783161	chr8:110509800-110509801	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs562314648	chr8:110509812-110509813	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs576970980	chr8:110509868-110509869	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs147003507	chr8:110509897-110509898	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs186342862	chr8:110509901-110509902	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs1783160	chr8:110509913-110509914	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs542092889	chr8:110509935-110509936	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561683184	chr8:110509942-110509943	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs141727331	chr8:110509944-110509945	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs191043166	chr8:110509961-110509962	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs564133489	chr8:110510012-110510013	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs113810703	chr8:110510023-110510024	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs72054916	chr8:110510024-110510025	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs202157998	chr8:110510029-110510030	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs72687045	chr8:110510084-110510085	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs550151445	chr8:110510100-110510101	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs577988816	chr8:110510112-110510113	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs536690508	chr8:110510117-110510118	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs182129726	chr8:110510136-110510137	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs556873372	chr8:110510140-110510141	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs73704043	chr8:110510177-110510178	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs565758084	chr8:110510266-110510267	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs534652870	chr8:110510282-110510283	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs371183312	chr8:110510321-110510322	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs374079847	chr8:110510322-110510323	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs71305953	chr8:110510341-110510342	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs538830109	chr8:110510361-110510362	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs557839282	chr8:110510379-110510380	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs559109981	chr8:110510410-110510411	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:

No data

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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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