Variant report

Variant	nsv611247
Chromosome Location	chr8:47178209-47287147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86830620..86831120-chr8:47284541..47285069,2	MCF-7	breast:

Extended variants
information (count: 4723 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:4723 , 50 per page) page: 1 2 3 4 5 6 7 ... 95

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563185765	chr8:47179218-47179219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138981079	chr8:47179224-47179225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565866358	chr8:47179248-47179249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4526371	chr8:47179250-47179251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552565352	chr8:47179254-47179255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140652822	chr8:47179261-47179262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73568329	chr8:47179274-47179275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143737073	chr8:47179282-47179283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567660461	chr8:47179283-47179284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200493635	chr8:47179288-47179289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536648740	chr8:47179311-47179312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148111761	chr8:47179313-47179314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569917908	chr8:47179333-47179334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372600380	chr8:47179334-47179335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558447541	chr8:47179345-47179346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142955820	chr8:47179346-47179347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571869073	chr8:47179347-47179348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370588991	chr8:47179360-47179361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182227872	chr8:47179365-47179366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186576266	chr8:47179366-47179367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543388284	chr8:47179367-47179368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572059786	chr8:47179397-47179398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141872202	chr8:47179400-47179401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576932907	chr8:47179432-47179433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150194402	chr8:47179434-47179435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75981267	chr8:47179437-47179438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200567072	chr8:47179451-47179452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527844328	chr8:47179514-47179515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372306436	chr8:47179530-47179531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190635718	chr8:47179538-47179539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138996776	chr8:47179549-47179550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183139732	chr8:47179566-47179567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138241724	chr8:47179592-47179593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201447124	chr8:47179595-47179596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143905512	chr8:47179597-47179598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142630208	chr8:47179598-47179599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141236447	chr8:47179600-47179601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550127874	chr8:47179618-47179619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569687242	chr8:47179629-47179630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566187891	chr8:47179630-47179631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187111263	chr8:47179661-47179662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs80219407	chr8:47179694-47179695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377458879	chr8:47179701-47179702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376298576	chr8:47179740-47179741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191279743	chr8:47179781-47179782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183084012	chr8:47179796-47179797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554500304	chr8:47179803-47179804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574450445	chr8:47179833-47179834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558267221	chr8:47179903-47179904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536715768	chr8:47179911-47179912	Weak transcription	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
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
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
Autism	20841430	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47179200-47179400	Enhancers	Ovary	ovary
2	chr8:47179200-47179600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:47179400-47181800	Weak transcription	Ovary	ovary
4	chr8:47179600-47181400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:47181400-47182800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:47181400-47184000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:47181800-47182000	Enhancers	Ovary	ovary
8	chr8:47182000-47182600	Weak transcription	Ovary	ovary
9	chr8:47182600-47183400	Enhancers	Ovary	ovary
10	chr8:47183600-47188400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:47184000-47186000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:47184000-47187800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:47185400-47187200	ZNF genes & repeats	Fetal Brain Female	brain
14	chr8:47185600-47185800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr8:47186000-47186800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr8:47186800-47187200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:47187200-47188200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr8:47187600-47188600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:47188200-47190800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:47190800-47191800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:47197600-47205600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:47198200-47198800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:47201400-47203200	ZNF genes & repeats	Liver	Liver
24	chr8:47201800-47203600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:47202400-47202800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:47207200-47210000	ZNF genes & repeats	Liver	Liver
27	chr8:47210800-47219200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:47216800-47219200	ZNF genes & repeats	Liver	Liver
29	chr8:47217800-47222000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr8:47222000-47224400	Weak transcription	Liver	Liver
31	chr8:47224400-47225800	ZNF genes & repeats	Liver	Liver
32	chr8:47225200-47226800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
33	chr8:47227800-47228800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr8:47229400-47230600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr8:47232200-47233800	ZNF genes & repeats	Adipose Nuclei	Adipose
36	chr8:47233000-47235000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr8:47238000-47238200	ZNF genes & repeats	Fetal Brain Female	brain
38	chr8:47238000-47255000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:47238600-47242200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:47238800-47241400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
41	chr8:47239400-47242200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
42	chr8:47242800-47251400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr8:47245000-47245600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:47247200-47250800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
45	chr8:47253800-47255400	ZNF genes & repeats	Adipose Nuclei	Adipose
46	chr8:47255400-47255600	ZNF genes & repeats	Fetal Brain Female	brain
47	chr8:47259000-47259400	Active TSS	Fetal Heart	heart
48	chr8:47259200-47259800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr8:47263400-47265200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:47264600-47265000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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