Variant report

Variant	nsv1024584
Chromosome Location	chr8:49879137-49906780
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:49892876..49895194-chr8:49895306..49897723,2	K562	blood:
2	chr8:49895549..49898241-chr8:49900621..49903477,2	K562	blood:
3	chr8:49885381..49888079-chr8:49888285..49890479,2	K562	blood:
4	chr8:49885381..49888079-chr8:49888285..49890479,2	K562	blood:
5	chr8:49892876..49895194-chr8:49895306..49897723,2	K562	blood:
6	chr8:49890957..49892066-chr8:50142626..50143516,6	MCF-7	breast:
7	chr8:49895549..49898241-chr8:49900621..49903477,2	K562	blood:
8	chr8:49898776..49901626-chr8:49902586..49905663,4	K562	blood:
9	chr8:49898776..49901626-chr8:49902586..49905663,4	K562	blood:
10	chr8:49892808..49895194-chr8:49895306..49897455,2	K562	blood:
11	chr8:49891467..49892101-chr8:52722596..52723494,2	K562	blood:
12	chr8:49892808..49895194-chr8:49895306..49897455,2	K562	blood:
13	chr8:49891255..49891972-chr8:51310445..51311051,2	MCF-7	breast:
14	chr8:49892142..49894489-chr8:49957987..49960714,3	K562	blood:
15	chr8:49891275..49892295-chr8:50142649..50143406,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272076	chromatin interactions

Extended variants
information (count: 802 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:802 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116476026	chr8:49881228-49881229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs115816591	chr8:49881289-49881290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs576343406	chr8:49881290-49881291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs191197251	chr8:49881294-49881295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs370282403	chr8:49881296-49881297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs184097000	chr8:49881320-49881321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs555342148	chr8:49881321-49881322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs373066303	chr8:49881392-49881393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs139245844	chr8:49881454-49881455	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs376012147	chr8:49881476-49881477	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs147685870	chr8:49881501-49881502	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs572400411	chr8:49881509-49881510	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs114082828	chr8:49881513-49881514	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs189031174	chr8:49881557-49881558	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs533242476	chr8:49881569-49881570	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs372830220	chr8:49881590-49881591	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs545997856	chr8:49881662-49881663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576946453	chr8:49881700-49881701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558144792	chr8:49881705-49881706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564235240	chr8:49881711-49881712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74604574	chr8:49881727-49881728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550097530	chr8:49881746-49881747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568104983	chr8:49881754-49881755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374784324	chr8:49881809-49881810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528865181	chr8:49881856-49881857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547203539	chr8:49881940-49881941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565788511	chr8:49881981-49881982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2203065	chr8:49881987-49881988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs557937822	chr8:49882008-49882009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569867177	chr8:49882033-49882034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537393125	chr8:49882035-49882036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs16939200	chr8:49882039-49882040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs573728749	chr8:49882082-49882083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79917478	chr8:49882086-49882087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577970606	chr8:49882105-49882106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74374107	chr8:49882142-49882143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144190684	chr8:49882187-49882188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117279128	chr8:49882201-49882202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564321179	chr8:49882209-49882210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527752955	chr8:49882210-49882211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193024023	chr8:49882278-49882279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543774869	chr8:49882312-49882313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147760450	chr8:49882340-49882341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73579333	chr8:49882384-49882385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs117198000	chr8:49882398-49882399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565497309	chr8:49882496-49882497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533049467	chr8:49882509-49882510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551055872	chr8:49882511-49882512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569954381	chr8:49882592-49882593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372480914	chr8:49882625-49882626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49881200-49881400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:49881200-49881600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:49881400-49881800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:49881600-49889400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:49882600-49883600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:49882800-49883800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:49883600-49885200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:49885400-49885600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:49885400-49885800	Enhancers	Adipose Nuclei	Adipose
10	chr8:49889000-49890800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:49889400-49891000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:49891000-49891600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:49891600-49891800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr8:49891600-49892000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:49891600-49892200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:49891600-49892400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr8:49891600-49892600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:49891600-49893000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:49891800-49892000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:49891800-49892000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:49891800-49892000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr8:49891800-49892200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr8:49891800-49892200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr8:49891800-49892400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr8:49892000-49892200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:49892000-49892200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr8:49892000-49892400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:49892000-49892400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:49892000-49892400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr8:49892000-49892600	Enhancers	Brain Anterior Caudate	brain
31	chr8:49892000-49892600	Enhancers	Stomach Mucosa	stomach
32	chr8:49892000-49892600	Enhancers	Hela-S3	cervix
33	chr8:49892000-49892800	Enhancers	Fetal Lung	lung
34	chr8:49892200-49892400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:49892200-49892400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr8:49892200-49896600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:49892400-49892600	Enhancers	Fetal Brain Male	brain
38	chr8:49892400-49892600	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr8:49892400-49893200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:49892600-49896000	Weak transcription	Fetal Brain Male	brain
41	chr8:49892600-49896800	Weak transcription	Hela-S3	cervix
42	chr8:49895600-49896400	Enhancers	Psoas Muscle	Psoas
43	chr8:49896000-49896200	Enhancers	Fetal Brain Male	brain
44	chr8:49896200-49897200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr8:49896400-49896800	Weak transcription	Psoas Muscle	Psoas
46	chr8:49896600-49897200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr8:49896800-49897200	Enhancers	Psoas Muscle	Psoas
48	chr8:49896800-49897200	Enhancers	Hela-S3	cervix
49	chr8:49897000-49897400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:49897200-49898000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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