Variant report

Variant	nsv520882
Chromosome Location	chr8:20102006-20109492
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:20103827..20105570-chr8:20109022..20111621,2	MCF-7	breast:
2	chr8:20100650..20102578-chr8:20107776..20109639,2	K562	blood:
3	chr8:20104516..20107497-chr8:20115671..20117806,2	K562	blood:
4	chr8:20100650..20102578-chr8:20107776..20109639,2	K562	blood:
5	chr8:20103827..20105570-chr8:20109022..20111621,2	MCF-7	breast:

Extended variants
information (count: 382 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2173115	chr8:20102006-20102007	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570429270	chr8:20102022-20102023	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374671973	chr8:20102045-20102046	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537707797	chr8:20102052-20102053	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78861396	chr8:20102074-20102075	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568412220	chr8:20102078-20102079	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114686672	chr8:20102085-20102086	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77086074	chr8:20102094-20102095	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548147687	chr8:20102097-20102098	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572479653	chr8:20102121-20102122	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559055628	chr8:20102124-20102125	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186680588	chr8:20102166-20102167	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372167179	chr8:20102167-20102168	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190600134	chr8:20102223-20102224	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374173142	chr8:20102242-20102243	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577160034	chr8:20102246-20102247	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150373444	chr8:20102266-20102267	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566545522	chr8:20102275-20102276	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182957518	chr8:20102324-20102325	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368758438	chr8:20102327-20102328	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560013041	chr8:20102337-20102338	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73603990	chr8:20102343-20102344	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs114759059	chr8:20102371-20102372	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187604422	chr8:20102374-20102375	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372574185	chr8:20102404-20102405	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531402073	chr8:20102463-20102464	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs137954277	chr8:20102485-20102486	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6989618	chr8:20102492-20102493	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs535507840	chr8:20102497-20102498	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368774011	chr8:20102521-20102522	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547738856	chr8:20102556-20102557	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541645093	chr8:20102579-20102580	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370767168	chr8:20102580-20102581	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77004496	chr8:20102582-20102583	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539899498	chr8:20102587-20102588	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190923200	chr8:20102737-20102738	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572033894	chr8:20102767-20102768	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142352226	chr8:20102786-20102787	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537642786	chr8:20102818-20102819	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs386723297	chr8:20102847-20102848	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144567911	chr8:20102848-20102849	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541476921	chr8:20102852-20102853	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1982959	chr8:20102878-20102879	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs571812884	chr8:20102883-20102884	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545543427	chr8:20102933-20102934	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564951165	chr8:20102939-20102940	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138599954	chr8:20102942-20102943	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532110840	chr8:20102957-20102958	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543583904	chr8:20102967-20102968	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561854023	chr8:20103024-20103025	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Melanoma	20688739	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20090000-20103800	Weak transcription	HSMM	muscle
2	chr8:20090200-20102800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:20091200-20103800	Weak transcription	NHLF	lung
4	chr8:20093800-20103000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:20093800-20103200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:20093800-20104200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:20094000-20109800	Weak transcription	Thymus	Thymus
8	chr8:20094800-20111800	Weak transcription	Fetal Thymus	thymus
9	chr8:20096000-20109800	Weak transcription	Primary T cells from cord blood	blood
10	chr8:20096200-20103000	Weak transcription	Dnd41	blood
11	chr8:20096400-20106000	Weak transcription	Placenta	Placenta
12	chr8:20096600-20109200	Weak transcription	Fetal Lung	lung
13	chr8:20096800-20103200	Weak transcription	Brain Germinal Matrix	brain
14	chr8:20096800-20103800	Weak transcription	Esophagus	oesophagus
15	chr8:20096800-20119400	Weak transcription	Right Atrium	heart
16	chr8:20097000-20109200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:20097200-20103600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:20097200-20109000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:20097200-20111800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:20097400-20102800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:20097400-20103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:20097400-20103200	Weak transcription	Fetal Brain Female	brain
23	chr8:20097400-20108800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:20097400-20112400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:20097600-20103000	Weak transcription	Fetal Brain Male	brain
26	chr8:20097600-20107200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:20097600-20109600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:20097600-20110800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr8:20097600-20112000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:20099000-20103000	Weak transcription	Fetal Stomach	stomach
31	chr8:20099800-20102600	Enhancers	Fetal Muscle Leg	muscle
32	chr8:20100800-20103600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:20101000-20103800	Weak transcription	HSMMtube	muscle
34	chr8:20101200-20103400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:20101400-20103200	Enhancers	Fetal Muscle Trunk	muscle
36	chr8:20101400-20103400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:20101800-20104000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:20102000-20102400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:20102200-20108800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr8:20102400-20103000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:20102400-20105800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:20102400-20118800	Weak transcription	NH-A	brain
43	chr8:20102600-20108400	Genic enhancers	Fetal Muscle Leg	muscle
44	chr8:20102800-20105000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:20102800-20110400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:20103000-20103400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr8:20103000-20104000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:20103000-20106600	Enhancers	Fetal Brain Male	brain
49	chr8:20103000-20111600	Strong transcription	Fetal Stomach	stomach
50	chr8:20103000-20113200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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