Variant report

Variant	nsv6181
Chromosome Location	chr8:49885342-49930514
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	chr8:49895549..49898241-chr8:49900621..49903477,2	K562	blood:
2	chr8:49892876..49895194-chr8:49895306..49897723,2	K562	blood:
3	chr8:49890957..49892066-chr8:50142626..50143516,6	MCF-7	breast:
4	chr8:49892808..49895194-chr8:49895306..49897455,2	K562	blood:
5	chr8:49891275..49892295-chr8:50142649..50143406,4	K562	blood:
6	chr8:49885381..49888079-chr8:49888285..49890479,2	K562	blood:
7	chr8:49891467..49892101-chr8:52722596..52723494,2	K562	blood:
8	chr8:49892876..49895194-chr8:49895306..49897723,2	K562	blood:
9	chr8:49898776..49901626-chr8:49902586..49905663,4	K562	blood:
10	chr8:49891255..49891972-chr8:51310445..51311051,2	MCF-7	breast:
11	chr8:49885381..49888079-chr8:49888285..49890479,2	K562	blood:
12	chr8:49892142..49894489-chr8:49957987..49960714,3	K562	blood:
13	chr8:49892808..49895194-chr8:49895306..49897455,2	K562	blood:
14	chr8:49895549..49898241-chr8:49900621..49903477,2	K562	blood:
15	chr8:49898776..49901626-chr8:49902586..49905663,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272076	chromatin interactions

Extended variants
information (count: 838 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:838 , 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	rs554515929	chr8:49885383-49885384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144276892	chr8:49885417-49885418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540275128	chr8:49885426-49885427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565524250	chr8:49885442-49885443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181989289	chr8:49885485-49885486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544955661	chr8:49885491-49885492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574284922	chr8:49885492-49885493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563150731	chr8:49885503-49885504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530387629	chr8:49885536-49885537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187035111	chr8:49885538-49885539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560455030	chr8:49885549-49885550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190437307	chr8:49885567-49885568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs386725097	chr8:49885578-49885579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112457893	chr8:49885579-49885580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571145895	chr8:49885643-49885644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538427026	chr8:49885653-49885654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148331552	chr8:49885658-49885659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182633799	chr8:49885697-49885698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536507903	chr8:49885742-49885743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554269614	chr8:49885747-49885748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185467802	chr8:49885791-49885792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189885690	chr8:49885815-49885816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556349135	chr8:49885845-49885846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533102808	chr8:49885849-49885850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13439448	chr8:49885855-49885856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544673533	chr8:49885871-49885872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182892871	chr8:49885912-49885913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541543685	chr8:49885929-49885930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544838401	chr8:49885941-49885942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187448126	chr8:49886019-49886020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563035506	chr8:49886056-49886057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6472144	chr8:49886083-49886084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs141520070	chr8:49886094-49886095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193266876	chr8:49886099-49886100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533617867	chr8:49886185-49886186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150888775	chr8:49886246-49886247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550056956	chr8:49886266-49886267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183802098	chr8:49886278-49886279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113579893	chr8:49886298-49886299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564262632	chr8:49886299-49886300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531658877	chr8:49886313-49886314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550372412	chr8:49886335-49886336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563990590	chr8:49886387-49886388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536198956	chr8:49886392-49886393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7005086	chr8:49886400-49886401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs114649236	chr8:49886430-49886431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562984143	chr8:49886443-49886444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558557517	chr8:49886450-49886451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577026677	chr8:49886494-49886495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187601707	chr8:49886522-49886523	Weak transcription	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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49881600-49889400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:49885400-49885600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:49885400-49885800	Enhancers	Adipose Nuclei	Adipose
4	chr8:49889000-49890800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:49889400-49891000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:49891000-49891600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:49891600-49891800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr8:49891600-49892000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:49891600-49892200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:49891600-49892400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr8:49891600-49892600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:49891600-49893000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:49891800-49892000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:49891800-49892000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:49891800-49892000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr8:49891800-49892200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr8:49891800-49892200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr8:49891800-49892400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr8:49892000-49892200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:49892000-49892200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr8:49892000-49892400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:49892000-49892400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:49892000-49892400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr8:49892000-49892600	Enhancers	Brain Anterior Caudate	brain
25	chr8:49892000-49892600	Enhancers	Stomach Mucosa	stomach
26	chr8:49892000-49892600	Enhancers	Hela-S3	cervix
27	chr8:49892000-49892800	Enhancers	Fetal Lung	lung
28	chr8:49892200-49892400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:49892200-49892400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr8:49892200-49896600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr8:49892400-49892600	Enhancers	Fetal Brain Male	brain
32	chr8:49892400-49892600	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr8:49892400-49893200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:49892600-49896000	Weak transcription	Fetal Brain Male	brain
35	chr8:49892600-49896800	Weak transcription	Hela-S3	cervix
36	chr8:49895600-49896400	Enhancers	Psoas Muscle	Psoas
37	chr8:49896000-49896200	Enhancers	Fetal Brain Male	brain
38	chr8:49896200-49897200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr8:49896400-49896800	Weak transcription	Psoas Muscle	Psoas
40	chr8:49896600-49897200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr8:49896800-49897200	Enhancers	Psoas Muscle	Psoas
42	chr8:49896800-49897200	Enhancers	Hela-S3	cervix
43	chr8:49897000-49897400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:49897200-49898000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:49897400-49900400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:49898000-49898200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr8:49898200-49899000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:49899000-49899200	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr8:49900400-49901600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:49901600-49902600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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