Variant report

Variant	nsv831304
Chromosome Location	chr8:46983435-47163023
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:47144016..47144925-chr8:47484500..47485152,3	MCF-7	breast:
2	chr8:47152207..47152786-chr8:47399264..47399945,2	MCF-7	breast:
3	chr8:46940855..46941726-chr8:47130252..47130754,2	K562	blood:
4	chr8:46940678..46941746-chr8:47130003..47131748,8	MCF-7	breast:
5	chr8:47059851..47061946-chr8:47064644..47066356,2	MCF-7	breast:
6	chr8:47059851..47061946-chr8:47064644..47066356,2	MCF-7	breast:
7	chr8:47103663..47106274-chr8:47108285..47110930,2	K562	blood:
8	chr8:47103663..47106274-chr8:47108285..47110930,2	K562	blood:

No data

Extended variants
information (count: 9601 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:9601 , 50 per page) page: 1 2 3 4 5 6 7 ... 193

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554858799	chr8:46983443-46983444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs77197610	chr8:46983448-46983449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs184451988	chr8:46983498-46983499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs559785681	chr8:46983521-46983522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs545613826	chr8:46983560-46983561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs187732350	chr8:46983566-46983567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs563732891	chr8:46983588-46983589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs141849658	chr8:46983596-46983597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs147561187	chr8:46983618-46983619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs374793089	chr8:46983650-46983651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs562080517	chr8:46983665-46983666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs368944887	chr8:46983676-46983677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs551074579	chr8:46983677-46983678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs541597418	chr8:46983685-46983686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs561705811	chr8:46983688-46983689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs75810683	chr8:46983689-46983690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs533154342	chr8:46983712-46983713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs546778868	chr8:46983727-46983728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs142966738	chr8:46983805-46983806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs535709521	chr8:46983811-46983812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs201756237	chr8:46983813-46983814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs574829413	chr8:46983825-46983826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs568817996	chr8:46983842-46983843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs547004985	chr8:46983887-46983888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs151107377	chr8:46983913-46983914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs193237081	chr8:46983917-46983918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs141055609	chr8:46983948-46983949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs539654569	chr8:46983960-46983961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs553504685	chr8:46983983-46983984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs573474024	chr8:46983987-46983988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs542494477	chr8:46983988-46983989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs542194149	chr8:46983993-46983994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs563998571	chr8:46984019-46984020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs117356812	chr8:46984030-46984031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs544760008	chr8:46984057-46984058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs145084427	chr8:46984067-46984068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs146819710	chr8:46984068-46984069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs185662031	chr8:46984110-46984111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs560257271	chr8:46984120-46984121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs111556275	chr8:46984156-46984157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs190851745	chr8:46984164-46984165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs529205495	chr8:46984203-46984204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs533061381	chr8:46984204-46984205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs549235702	chr8:46984259-46984260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs568804527	chr8:46984277-46984278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs549563214	chr8:46984278-46984279	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs140606569	chr8:46984280-46984281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs550920867	chr8:46984286-46984287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs145664592	chr8:46984310-46984311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs79097256	chr8:46984316-46984317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Oral cancer	21386901	CNVD
Acute myeloid leukemia	20729466	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	21251322	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
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	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
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	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
Schizophrenia	20967226	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:46979800-46990200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:46998000-47000600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:47001200-47002400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr8:47002800-47005400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr8:47002800-47007400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:47003400-47003600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
7	chr8:47003600-47006800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
8	chr8:47004600-47007000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:47005000-47006000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
10	chr8:47005000-47007000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:47005200-47009400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr8:47005400-47006800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:47005400-47007200	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr8:47006200-47007200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr8:47008200-47009400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:47009000-47035600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:47009200-47009600	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr8:47009400-47015600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:47009600-47033400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:47015000-47018200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:47016200-47016800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:47016200-47017000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:47016400-47016600	Bivalent Enhancer	Right Ventricle	heart
24	chr8:47016400-47018200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
25	chr8:47018200-47019200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:47021600-47028400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:47022400-47025000	ZNF genes & repeats	Placenta	Placenta
28	chr8:47023400-47024000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:47030200-47030400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:47033400-47034000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:47033600-47035000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:47033800-47034000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:47034000-47034200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr8:47034000-47034600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:47034000-47035800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr8:47034000-47038200	Enhancers	Ovary	ovary
37	chr8:47034200-47037600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr8:47034600-47034800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:47034800-47035200	Enhancers	Pancreas	Pancrea
40	chr8:47034800-47035200	Enhancers	Spleen	Spleen
41	chr8:47034800-47036800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:47034800-47037200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr8:47034800-47037200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr8:47035000-47036800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:47035200-47037000	Weak transcription	Spleen	Spleen
46	chr8:47035800-47036200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr8:47036200-47038600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr8:47036800-47037800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:47036800-47037800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:47037000-47037200	Enhancers	Spleen	Spleen

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