Variant report

Variant	nsv539385
Chromosome Location	chr8:4255656-4309691
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	chr8:4092133..4092721-chr8:4257157..4257997,2	MCF-7	breast:
2	chr8:3141838..3142362-chr8:4257194..4257921,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183117	chromatin interactions

Extended variants
information (count: 2660 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:2660 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568219189	chr8:4257198-4257199	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs13270991	chr8:4257199-4257200	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
3	rs547861982	chr8:4257208-4257209	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs79117164	chr8:4257236-4257237	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs1438210	chr8:4257256-4257257	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs144081902	chr8:4257274-4257275	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs1864517	chr8:4257291-4257292	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550420100	chr8:4257296-4257297	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs181388041	chr8:4257312-4257313	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs556351297	chr8:4257314-4257315	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574675022	chr8:4257315-4257316	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs78611172	chr8:4257318-4257319	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs570231279	chr8:4257321-4257322	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571979348	chr8:4257323-4257324	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs368794517	chr8:4257334-4257335	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs116690666	chr8:4257341-4257342	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564462201	chr8:4257347-4257348	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs531840363	chr8:4257354-4257355	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200595871	chr8:4257369-4257370	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs185621929	chr8:4257387-4257388	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs146486479	chr8:4257391-4257392	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs529489822	chr8:4257393-4257394	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs372190367	chr8:4257395-4257396	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs566152211	chr8:4257409-4257410	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs190035996	chr8:4257417-4257418	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs551704651	chr8:4257430-4257431	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs376164966	chr8:4257458-4257459	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538180665	chr8:4257460-4257461	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs113223954	chr8:4257481-4257482	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs117238247	chr8:4257494-4257495	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs535622356	chr8:4257505-4257506	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs551145213	chr8:4257516-4257517	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs553600635	chr8:4257518-4257519	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs562120381	chr8:4257527-4257528	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs35589069	chr8:4257529-4257530	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs533541766	chr8:4257534-4257535	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs545485685	chr8:4257562-4257563	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs117410777	chr8:4257580-4257581	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs547319770	chr8:4257594-4257595	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs567199629	chr8:4257597-4257598	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs536112018	chr8:4257602-4257603	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs180845719	chr8:4257608-4257609	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73658846	chr8:4257609-4257610	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs376673516	chr8:4257620-4257621	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs529500710	chr8:4257625-4257626	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs34272328	chr8:4257633-4257634	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs544419591	chr8:4257634-4257635	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs559593435	chr8:4257646-4257647	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs369954570	chr8:4257652-4257653	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs143210912	chr8:4257662-4257663	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:128)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	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
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	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
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Schizophrenia	21346763	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4257400-4258000	Enhancers	Fetal Brain Female	brain
2	chr8:4257600-4260400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:4257800-4258200	Enhancers	Fetal Brain Male	brain
4	chr8:4258000-4260000	Weak transcription	Fetal Brain Female	brain
5	chr8:4258200-4265000	Weak transcription	Fetal Brain Male	brain
6	chr8:4259600-4259800	Enhancers	Fetal Heart	heart
7	chr8:4259800-4260200	Enhancers	Brain Germinal Matrix	brain
8	chr8:4259800-4260400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:4260000-4260200	Enhancers	Fetal Brain Female	brain
10	chr8:4260200-4263200	Weak transcription	Brain Germinal Matrix	brain
11	chr8:4260400-4263200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:4260400-4264200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:4262600-4262800	Enhancers	Brain Angular Gyrus	brain
14	chr8:4263000-4264400	Enhancers	Fetal Heart	heart
15	chr8:4263200-4263800	Enhancers	Brain Hippocampus Middle	brain
16	chr8:4263200-4264800	Enhancers	Fetal Muscle Leg	muscle
17	chr8:4263200-4266000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:4263200-4266000	Enhancers	Brain Germinal Matrix	brain
19	chr8:4263400-4263600	Enhancers	Brain Angular Gyrus	brain
20	chr8:4263800-4264200	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:4264200-4264600	Enhancers	Brain Hippocampus Middle	brain
22	chr8:4264200-4264800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:4265000-4265800	Enhancers	Fetal Brain Male	brain
24	chr8:4265800-4274600	Weak transcription	Fetal Brain Male	brain
25	chr8:4269400-4270000	Enhancers	Gastric	stomach
26	chr8:4272800-4273000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:4278200-4279000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr8:4284600-4285000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:4285000-4285400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:4290000-4291000	Enhancers	Fetal Muscle Leg	muscle
31	chr8:4291000-4291800	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:4292200-4292400	Enhancers	Fetal Muscle Leg	muscle
33	chr8:4293000-4293400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:4295200-4296000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr8:4295400-4296000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:4300000-4300400	Enhancers	Fetal Brain Male	brain
37	chr8:4300400-4301400	Weak transcription	Fetal Brain Male	brain
38	chr8:4301400-4301600	Enhancers	Fetal Brain Male	brain
39	chr8:4303200-4303600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr8:4307000-4307600	Enhancers	H9 Cell Line	embryonic stem cell
41	chr8:4307200-4307600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr8:4309200-4310400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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