Variant report

Variant	nsv1026267
Chromosome Location	chr8:53392062-53431103
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:53395676..53397810-chr8:53399596..53402225,2	MCF-7	breast:
2	chr8:53395676..53397810-chr8:53399596..53402225,2	MCF-7	breast:
3	chr8:53408834..53411625-chr8:53415197..53417909,2	MCF-7	breast:
4	chr8:53333238..53334019-chr8:53408621..53409292,5	MCF-7	breast:
5	chr8:53396327..53397778-chr8:53408319..53409731,6	MCF-7	breast:
6	chr8:53408834..53411625-chr8:53415197..53417909,2	MCF-7	breast:
7	chr8:53024718..53025840-chr8:53408415..53409142,5	K562	blood:
8	chr8:53333127..53333987-chr8:53403629..53404249,2	MCF-7	breast:
9	chr8:53384050..53386139-chr8:53390786..53392939,2	MCF-7	breast:
10	chr8:53333125..53334025-chr8:53408456..53409345,8	MCF-7	breast:
11	chr8:53333510..53334034-chr8:53408804..53409370,2	K562	blood:
12	chr8:53396327..53397778-chr8:53408319..53409731,6	MCF-7	breast:

No data

Extended variants
information (count: 239 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370948213	chr8:53393401-53393402	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs183140516	chr8:53393407-53393408	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs115390879	chr8:53393410-53393411	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs548756653	chr8:53393462-53393463	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs186975375	chr8:53393502-53393503	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs575344616	chr8:53393527-53393528	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs544253755	chr8:53393556-53393557	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs113436812	chr8:53393563-53393564	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs553004231	chr8:53393569-53393570	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs192290494	chr8:53393574-53393575	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs112459031	chr8:53393580-53393581	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs144274895	chr8:53393589-53393590	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs184173112	chr8:53394020-53394021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2582629	chr8:53394051-53394052	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs187789331	chr8:53394071-53394072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528254883	chr8:53394105-53394106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193031744	chr8:53394131-53394132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571296785	chr8:53394168-53394169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538401083	chr8:53394204-53394205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542285945	chr8:53394208-53394209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7845332	chr8:53394342-53394343	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs139734700	chr8:53394367-53394368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556063731	chr8:53394383-53394384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10111099	chr8:53394404-53394405	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs184566557	chr8:53394431-53394432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144520069	chr8:53394432-53394433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557836971	chr8:53394440-53394441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111762412	chr8:53394457-53394458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs578043018	chr8:53394458-53394459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552813316	chr8:53394474-53394475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545129363	chr8:53394488-53394489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113839049	chr8:53394509-53394510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563443115	chr8:53394529-53394530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367590106	chr8:53394530-53394531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530784929	chr8:53394531-53394532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2613257	chr8:53394610-53394611	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs557094192	chr8:53394611-53394612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146648166	chr8:53394648-53394649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571391461	chr8:53394680-53394681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532339468	chr8:53394681-53394682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189272165	chr8:53394687-53394688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs180822520	chr8:53394699-53394700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2582628	chr8:53394720-53394721	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs141044152	chr8:53394725-53394726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374939440	chr8:53394743-53394744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201846680	chr8:53394850-53394851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs397803340	chr8:53394851-53394852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78809476	chr8:53394929-53394930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs367896455	chr8:53394969-53394970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529340168	chr8:53395017-53395018	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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:53393400-53393600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:53394000-53395800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:53394000-53395800	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr8:53394000-53396000	Enhancers	Primary hematopoietic stem cells	blood
5	chr8:53394000-53396200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr8:53394200-53395800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:53394200-53396400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:53397600-53398000	Enhancers	Fetal Stomach	stomach
9	chr8:53397600-53398000	Active TSS	Spleen	Spleen
10	chr8:53398200-53398600	Enhancers	Spleen	Spleen
11	chr8:53399200-53399800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:53407000-53407200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:53408000-53408200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
14	chr8:53408200-53408400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:53408200-53408400	Enhancers	Brain Substantia Nigra	brain
16	chr8:53408200-53408600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:53408200-53408600	Bivalent Enhancer	HepG2	liver
18	chr8:53408400-53408600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
19	chr8:53408400-53408600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr8:53408400-53408600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:53408400-53408600	Bivalent Enhancer	Lung	lung
22	chr8:53408400-53408800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
23	chr8:53408400-53408800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr8:53408400-53408800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
25	chr8:53408400-53408800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:53408400-53408800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:53408400-53408800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
28	chr8:53408400-53408800	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr8:53408400-53408800	Enhancers	Brain Angular Gyrus	brain
30	chr8:53408400-53408800	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr8:53408400-53408800	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr8:53408400-53408800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
33	chr8:53408400-53408800	Enhancers	HMEC	breast
34	chr8:53408400-53409000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:53408400-53409000	Active TSS	Brain Hippocampus Middle	brain
36	chr8:53408400-53409000	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr8:53408400-53409000	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr8:53408400-53409200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:53408400-53409200	Enhancers	Hela-S3	cervix
40	chr8:53408600-53408800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr8:53408600-53408800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:53408600-53408800	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:53408600-53408800	Bivalent/Poised TSS	Primary B cells from cord blood	blood
44	chr8:53408600-53408800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
45	chr8:53408600-53408800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:53408600-53408800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:53408600-53408800	Bivalent Enhancer	Liver	Liver
48	chr8:53408600-53408800	Enhancers	Colon Smooth Muscle	Colon
49	chr8:53408600-53408800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
50	chr8:53408600-53408800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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