Variant report

Variant	nsv1028813
Chromosome Location	chr8:53407713-53471832
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:53024718..53025840-chr8:53408415..53409142,5	K562	blood:
2	chr8:53333510..53334034-chr8:53408804..53409370,2	K562	blood:
3	chr8:53408834..53411625-chr8:53415197..53417909,2	MCF-7	breast:
4	chr8:53408834..53411625-chr8:53415197..53417909,2	MCF-7	breast:
5	chr8:53396327..53397778-chr8:53408319..53409731,6	MCF-7	breast:
6	chr8:53333125..53334025-chr8:53408456..53409345,8	MCF-7	breast:
7	chr8:53333238..53334019-chr8:53408621..53409292,5	MCF-7	breast:

Extended variants
information (count: 1404 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1404 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73593363	chr8:53408019-53408020	Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545076232	chr8:53408067-53408068	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs13273927	chr8:53408084-53408085	Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs368961506	chr8:53408104-53408105	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs2582602	chr8:53408111-53408112	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs546839535	chr8:53408118-53408119	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs535021806	chr8:53408191-53408192	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs571400201	chr8:53408224-53408225	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201853902	chr8:53408239-53408240	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149908498	chr8:53408286-53408287	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544196713	chr8:53408398-53408399	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550801618	chr8:53408408-53408409	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs12674487	chr8:53408414-53408415	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs189309737	chr8:53408430-53408431	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs11776276	chr8:53408434-53408435	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
16	rs12680116	chr8:53408441-53408442	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs372471632	chr8:53408486-53408487	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs113172896	chr8:53408490-53408491	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs537292559	chr8:53408513-53408514	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs576967369	chr8:53408535-53408536	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs180848143	chr8:53408550-53408551	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs200285847	chr8:53408660-53408661	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs557121715	chr8:53408716-53408717	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs375125116	chr8:53408745-53408746	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs148384251	chr8:53408780-53408781	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs562457148	chr8:53408810-53408811	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs574356637	chr8:53408870-53408871	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs375283575	chr8:53408885-53408886	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs561246094	chr8:53408886-53408887	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs528803044	chr8:53408916-53408917	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs546900805	chr8:53408941-53408942	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs375683358	chr8:53408947-53408948	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs565091087	chr8:53408965-53408966	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs535488517	chr8:53408974-53408975	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs532619446	chr8:53409001-53409002	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs142084924	chr8:53409010-53409011	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs7844059	chr8:53409057-53409058	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs28668576	chr8:53409082-53409083	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs151218866	chr8:53409097-53409098	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs567047867	chr8:53409118-53409119	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs555128025	chr8:53409168-53409169	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs535599891	chr8:53409174-53409175	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs111661607	chr8:53409229-53409230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112163446	chr8:53409280-53409281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140411205	chr8:53409312-53409313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184278444	chr8:53409360-53409361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576933211	chr8:53409375-53409376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537677233	chr8:53409498-53409499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189675136	chr8:53409501-53409502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574492176	chr8:53409508-53409509	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:53408000-53408200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
2	chr8:53408200-53408400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:53408200-53408400	Enhancers	Brain Substantia Nigra	brain
4	chr8:53408200-53408600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:53408200-53408600	Bivalent Enhancer	HepG2	liver
6	chr8:53408400-53408600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr8:53408400-53408600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr8:53408400-53408600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:53408400-53408600	Bivalent Enhancer	Lung	lung
10	chr8:53408400-53408800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
11	chr8:53408400-53408800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr8:53408400-53408800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
13	chr8:53408400-53408800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:53408400-53408800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:53408400-53408800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
16	chr8:53408400-53408800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr8:53408400-53408800	Enhancers	Brain Angular Gyrus	brain
18	chr8:53408400-53408800	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr8:53408400-53408800	Flanking Active TSS	Brain Substantia Nigra	brain
20	chr8:53408400-53408800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
21	chr8:53408400-53408800	Enhancers	HMEC	breast
22	chr8:53408400-53409000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:53408400-53409000	Active TSS	Brain Hippocampus Middle	brain
24	chr8:53408400-53409000	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr8:53408400-53409000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr8:53408400-53409200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:53408400-53409200	Enhancers	Hela-S3	cervix
28	chr8:53408600-53408800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr8:53408600-53408800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:53408600-53408800	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:53408600-53408800	Bivalent/Poised TSS	Primary B cells from cord blood	blood
32	chr8:53408600-53408800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
33	chr8:53408600-53408800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:53408600-53408800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:53408600-53408800	Bivalent Enhancer	Liver	Liver
36	chr8:53408600-53408800	Enhancers	Colon Smooth Muscle	Colon
37	chr8:53408600-53408800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
38	chr8:53408600-53408800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr8:53408600-53408800	Bivalent/Poised TSS	Fetal Brain Male	brain
40	chr8:53408600-53408800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
41	chr8:53408600-53408800	Enhancers	Rectal Smooth Muscle	rectum
42	chr8:53408600-53408800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
43	chr8:53408600-53408800	Bivalent Enhancer	Stomach Mucosa	stomach
44	chr8:53408600-53408800	Bivalent/Poised TSS	A549	lung
45	chr8:53408600-53408800	Bivalent Enhancer	Dnd41	blood
46	chr8:53408600-53408800	Flanking Bivalent TSS/Enh	HepG2	liver
47	chr8:53408600-53408800	Enhancers	NH-A	brain
48	chr8:53408600-53409000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:53408600-53409000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
50	chr8:53408600-53409000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum

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