Variant report

Variant	nsv819988
Chromosome Location	chr8:20103234-20104461
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	chr8:20103827..20105570-chr8:20109022..20111621,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571751576	chr8:20103264-20103265	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10093476	chr8:20103298-20103299	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548107891	chr8:20103301-20103302	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557461524	chr8:20103311-20103312	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188056448	chr8:20103326-20103327	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372611815	chr8:20103368-20103369	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192683859	chr8:20103371-20103372	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs904001	chr8:20103380-20103381	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs115431964	chr8:20103419-20103420	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534035171	chr8:20103429-20103430	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11291396	chr8:20103485-20103486	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559674491	chr8:20103507-20103508	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185022817	chr8:20103529-20103530	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376506508	chr8:20103577-20103578	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188293735	chr8:20103592-20103593	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570180166	chr8:20103593-20103594	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530994774	chr8:20103630-20103631	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537979536	chr8:20103639-20103640	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148556518	chr8:20103640-20103641	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567897528	chr8:20103644-20103645	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs3735836	chr8:20103654-20103655	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs553288570	chr8:20103667-20103668	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373554097	chr8:20103693-20103694	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75003325	chr8:20103705-20103706	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78987620	chr8:20103706-20103707	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376745194	chr8:20103720-20103721	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571588935	chr8:20103732-20103733	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539070824	chr8:20103745-20103746	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557295292	chr8:20103783-20103784	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542536101	chr8:20103785-20103786	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11785350	chr8:20103852-20103853	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111897993	chr8:20103853-20103854	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537100977	chr8:20103864-20103865	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555164352	chr8:20103896-20103897	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372432816	chr8:20103903-20103904	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541210784	chr8:20103907-20103908	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559712856	chr8:20103940-20103941	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534935030	chr8:20103941-20103942	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545429339	chr8:20103990-20103991	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553123106	chr8:20104037-20104038	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563627750	chr8:20104053-20104054	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530809709	chr8:20104068-20104069	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2735951	chr8:20104089-20104090	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549497254	chr8:20104100-20104101	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111308282	chr8:20104120-20104121	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561212348	chr8:20104124-20104125	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192054659	chr8:20104137-20104138	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184606141	chr8:20104151-20104152	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189313021	chr8:20104229-20104230	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73603996	chr8:20104243-20104244	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20090000-20103800	Weak transcription	HSMM	muscle
2	chr8:20091200-20103800	Weak transcription	NHLF	lung
3	chr8:20093800-20104200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:20094000-20109800	Weak transcription	Thymus	Thymus
5	chr8:20094800-20111800	Weak transcription	Fetal Thymus	thymus
6	chr8:20096000-20109800	Weak transcription	Primary T cells from cord blood	blood
7	chr8:20096400-20106000	Weak transcription	Placenta	Placenta
8	chr8:20096600-20109200	Weak transcription	Fetal Lung	lung
9	chr8:20096800-20103800	Weak transcription	Esophagus	oesophagus
10	chr8:20096800-20119400	Weak transcription	Right Atrium	heart
11	chr8:20097000-20109200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:20097200-20103600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:20097200-20109000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:20097200-20111800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:20097400-20108800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:20097400-20112400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:20097600-20107200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:20097600-20109600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:20097600-20110800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:20097600-20112000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:20100800-20103600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:20101000-20103800	Weak transcription	HSMMtube	muscle
23	chr8:20101200-20103400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:20101400-20103400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:20101800-20104000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:20102200-20108800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:20102400-20105800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:20102400-20118800	Weak transcription	NH-A	brain
29	chr8:20102600-20108400	Genic enhancers	Fetal Muscle Leg	muscle
30	chr8:20102800-20105000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:20102800-20110400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:20103000-20103400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:20103000-20104000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:20103000-20106600	Enhancers	Fetal Brain Male	brain
35	chr8:20103000-20111600	Strong transcription	Fetal Stomach	stomach
36	chr8:20103000-20113200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:20103000-20119400	Strong transcription	Dnd41	blood
38	chr8:20103200-20106400	Genic enhancers	Fetal Brain Female	brain
39	chr8:20103200-20108400	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr8:20103200-20112600	Strong transcription	Brain Germinal Matrix	brain
41	chr8:20103200-20112800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:20103400-20104600	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr8:20103400-20106000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:20103400-20113000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:20103600-20105000	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:20103600-20113000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:20103800-20104000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:20103800-20104000	Enhancers	Brain Anterior Caudate	brain
49	chr8:20103800-20104600	Strong transcription	HSMM	muscle
50	chr8:20103800-20104600	Strong transcription	HSMMtube	muscle

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