Variant report

Variant	nsv526320
Chromosome Location	chr8:59138364-59148256
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:59143409..59146068-chr8:59158188..59161044,2	MCF-7	breast:
2	chr8:58989456..58993031-chr8:59145472..59149096,3	MCF-7	breast:
3	chr8:59049598..59053395-chr8:59145380..59148312,3	MCF-7	breast:
4	chr8:59144776..59146918-chr8:59147975..59150397,2	K562	blood:
5	chr8:59060739..59063586-chr8:59145655..59147494,2	MCF-7	breast:
6	chr8:59133453..59136419-chr8:59140412..59142414,2	MCF-7	breast:
7	chr8:58907950..58910794-chr8:59140861..59142704,2	MCF-7	breast:
8	chr8:59144043..59146541-chr8:59150613..59152930,2	K562	blood:
9	chr8:59144776..59146918-chr8:59147975..59150397,2	K562	blood:
10	chr8:59135696..59137978-chr8:59143213..59145224,2	K562	blood:
11	chr8:59140490..59142324-chr8:59162430..59165375,2	K562	blood:
12	chr8:59145400..59147807-chr8:59266194..59268454,2	MCF-7	breast:
13	chr8:59146492..59148058-chr8:59152257..59153842,2	MCF-7	breast:
14	chr8:58909908..58910907-chr8:59145891..59146498,2	MCF-7	breast:
15	chr8:59129262..59132109-chr8:59140348..59143090,2	K562	blood:
16	chr8:58979230..58980915-chr8:59145278..59146797,2	MCF-7	breast:
17	chr8:59106915..59110868-chr8:59145602..59149155,4	MCF-7	breast:
18	chr8:58906362..58910518-chr8:59145004..59149868,5	MCF-7	breast:
19	chr8:58909294..58910156-chr8:59146757..59147645,4	MCF-7	breast:
20	chr8:59147444..59149173-chr8:59153580..59155263,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169122	chromatin interactions

Extended variants
information (count: 356 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2977370	chr8:59138364-59138365	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182831766	chr8:59138394-59138395	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560691144	chr8:59138396-59138397	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529808888	chr8:59138452-59138453	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111443156	chr8:59138463-59138464	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546409927	chr8:59138465-59138466	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566206333	chr8:59138466-59138467	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534935722	chr8:59138469-59138470	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2970750	chr8:59138556-59138557	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs571620234	chr8:59138559-59138560	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148939982	chr8:59138587-59138588	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143701564	chr8:59138598-59138599	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573918182	chr8:59138599-59138600	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536635817	chr8:59138674-59138675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148105887	chr8:59138705-59138706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573364041	chr8:59138706-59138707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561363272	chr8:59138736-59138737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545232715	chr8:59138744-59138745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558738526	chr8:59138768-59138769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188932093	chr8:59138794-59138795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544142170	chr8:59138812-59138813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561217123	chr8:59138849-59138850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529683165	chr8:59138858-59138859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192325260	chr8:59138909-59138910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142868643	chr8:59138911-59138912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532040724	chr8:59138934-59138935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35260502	chr8:59138986-59138987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs58867420	chr8:59139021-59139022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370002702	chr8:59139022-59139023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35762611	chr8:59139023-59139024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs61190579	chr8:59139024-59139025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145407492	chr8:59139047-59139048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571479948	chr8:59139089-59139090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183215097	chr8:59139099-59139100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187590820	chr8:59139105-59139106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373226796	chr8:59139125-59139126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138025620	chr8:59139132-59139133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142657652	chr8:59139142-59139143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553361030	chr8:59139229-59139230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566974661	chr8:59139254-59139255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150599066	chr8:59139261-59139262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113532571	chr8:59139265-59139266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34915745	chr8:59139267-59139268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138372676	chr8:59139279-59139280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575380833	chr8:59139286-59139287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544370548	chr8:59139290-59139291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75626905	chr8:59139315-59139316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12549409	chr8:59139326-59139327	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs539854073	chr8:59139403-59139404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559674872	chr8:59139404-59139405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	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
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59134200-59138600	Weak transcription	Fetal Lung	lung
2	chr8:59137400-59138600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:59137600-59141400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:59138600-59140200	Enhancers	Fetal Lung	lung
5	chr8:59138600-59142000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:59140200-59149600	Weak transcription	Fetal Lung	lung
7	chr8:59141200-59141800	Enhancers	HMEC	breast
8	chr8:59141400-59142200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:59141600-59142400	Enhancers	Placenta	Placenta
10	chr8:59142000-59143600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:59142200-59146400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:59142400-59142800	Weak transcription	Placenta	Placenta
13	chr8:59142800-59144600	Enhancers	Placenta	Placenta
14	chr8:59143200-59145000	Enhancers	Placenta Amnion	Placenta Amnion
15	chr8:59143600-59144000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:59143600-59144600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:59143800-59144000	Enhancers	HepG2	liver
18	chr8:59144000-59144200	Enhancers	Left Ventricle	heart
19	chr8:59144000-59144200	Enhancers	GM12878-XiMat	blood
20	chr8:59144000-59144600	Flanking Active TSS	HepG2	liver
21	chr8:59144000-59145400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:59144200-59147200	Weak transcription	GM12878-XiMat	blood
23	chr8:59144200-59150400	Weak transcription	Left Ventricle	heart
24	chr8:59144600-59145800	Enhancers	HepG2	liver
25	chr8:59144600-59146200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:59144600-59146200	Weak transcription	Placenta	Placenta
27	chr8:59145000-59146400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr8:59145200-59145800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr8:59145200-59146000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:59145200-59146000	Enhancers	Liver	Liver
31	chr8:59145200-59147000	Enhancers	NHDF-Ad	bronchial
32	chr8:59145200-59148600	Enhancers	Fetal Muscle Leg	muscle
33	chr8:59145400-59145600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr8:59145600-59145800	Enhancers	Fetal Stomach	stomach
35	chr8:59145600-59146000	Enhancers	NH-A	brain
36	chr8:59145800-59146800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:59146000-59146400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:59146000-59146400	Weak transcription	NH-A	brain
39	chr8:59146200-59147400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:59146200-59149200	Enhancers	Placenta	Placenta
41	chr8:59146400-59146800	Enhancers	Placenta Amnion	Placenta Amnion
42	chr8:59146400-59147000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:59146400-59147400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:59146400-59147400	Enhancers	NH-A	brain
45	chr8:59146400-59148400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:59146600-59147400	Enhancers	Fetal Stomach	stomach
47	chr8:59146600-59147600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:59146800-59147000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr8:59146800-59147800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr8:59146800-59148200	Enhancers	Fetal Heart	heart

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