Variant report

Variant	nsv1032490
Chromosome Location	chr8:3683879-3710060
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	chr8:3690563..3692155-chr8:3696765..3699016,2	K562	blood:
2	chr8:3690563..3692155-chr8:3696765..3699016,2	K562	blood:

Extended variants
information (count: 698 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:698 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4437679	chr8:3683879-3683880	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112318823	chr8:3683889-3683890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528506506	chr8:3683902-3683903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145453967	chr8:3683917-3683918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571643506	chr8:3683922-3683923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572162971	chr8:3683931-3683932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191130950	chr8:3683947-3683948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74768669	chr8:3683952-3683953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148411150	chr8:3683988-3683989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536397693	chr8:3684010-3684011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543287311	chr8:3684011-3684012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567289278	chr8:3684014-3684015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142550882	chr8:3684032-3684033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372510347	chr8:3684034-3684035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552577194	chr8:3684052-3684053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115032366	chr8:3684066-3684067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544918695	chr8:3684086-3684087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116735127	chr8:3684094-3684095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377209247	chr8:3684102-3684103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575401632	chr8:3684114-3684115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542421328	chr8:3684122-3684123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561119193	chr8:3684135-3684136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77534127	chr8:3684138-3684139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183799269	chr8:3684144-3684145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12681038	chr8:3684158-3684159	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs114617525	chr8:3684178-3684179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10088247	chr8:3684199-3684200	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs148097519	chr8:3694402-3694403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114989898	chr8:3694405-3694406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551984360	chr8:3694407-3694408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568021269	chr8:3694461-3694462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12542886	chr8:3694484-3694485	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs537439509	chr8:3694493-3694494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141881522	chr8:3694513-3694514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368780258	chr8:3694518-3694519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185015118	chr8:3694529-3694530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571877579	chr8:3694537-3694538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545665799	chr8:3694556-3694557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12542348	chr8:3694575-3694576	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs576457937	chr8:3694578-3694579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12545154	chr8:3694596-3694597	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs562021456	chr8:3694603-3694604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560613478	chr8:3694607-3694608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188729382	chr8:3694609-3694610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150646997	chr8:3694617-3694618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10503218	chr8:3694624-3694625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375687684	chr8:3694626-3694627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533593693	chr8:3694636-3694637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9314506	chr8:3694644-3694645	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs116248950	chr8:3694665-3694666	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Osteosarcoma	21215367	CNVD
Chronic myeloid leukemia	21384125	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3682600-3684200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:3683200-3684200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:3694400-3695400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:3694800-3695200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:3695600-3695800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:3697200-3697400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:3700000-3701600	Enhancers	Fetal Intestine Small	intestine
8	chr8:3704800-3708200	Enhancers	Fetal Intestine Small	intestine
9	chr8:3705200-3705400	Enhancers	Duodenum Mucosa	Duodenum
10	chr8:3705200-3709200	Enhancers	Fetal Intestine Large	intestine
11	chr8:3705400-3706600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:3705600-3706200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr8:3705600-3706600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr8:3705600-3706800	Enhancers	Liver	Liver
15	chr8:3705600-3707200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:3706000-3706200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
17	chr8:3706600-3706800	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr8:3706600-3707000	Active TSS	Duodenum Mucosa	Duodenum
19	chr8:3706800-3707000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr8:3707000-3708000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr8:3707400-3707600	Enhancers	Colonic Mucosa	Colon

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