Variant report

Variant	nsv889905
Chromosome Location	chr8:3670640-3684199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:3666135..3668628-chr8:3668969..3670957,2	K562	blood:
2	chr8:3675597..3677848-chr8:3833927..3836270,2	K562	blood:
3	chr8:3667541..3670301-chr8:3671592..3673613,2	K562	blood:

Extended variants
information (count: 1159 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:1159 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538612318	chr8:3672407-3672408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550246979	chr8:3672414-3672415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540247363	chr8:3672420-3672421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565586045	chr8:3672425-3672426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532823380	chr8:3672426-3672427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78414436	chr8:3672427-3672428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142803775	chr8:3672435-3672436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147970340	chr8:3672437-3672438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188470117	chr8:3672440-3672441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373976973	chr8:3672442-3672443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554125771	chr8:3672468-3672469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2929496	chr8:3672470-3672471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs577811218	chr8:3672484-3672485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1383946	chr8:3672490-3672491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs148045479	chr8:3672501-3672502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553675199	chr8:3672504-3672505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181854585	chr8:3672507-3672508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568761824	chr8:3672532-3672533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536019073	chr8:3672536-3672537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4515572	chr8:3672559-3672560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs76151596	chr8:3672576-3672577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186539609	chr8:3672578-3672579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192009011	chr8:3672595-3672596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183553216	chr8:3672599-3672600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141780328	chr8:3672626-3672627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542335311	chr8:3672638-3672639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150596849	chr8:3672643-3672644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186761265	chr8:3672657-3672658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117557105	chr8:3672701-3672702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575112757	chr8:3672718-3672719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542024307	chr8:3672737-3672738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11989967	chr8:3672740-3672741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs528129176	chr8:3672750-3672751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75042663	chr8:3672772-3672773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564581301	chr8:3672781-3672782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373054228	chr8:3672789-3672790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs80085252	chr8:3672824-3672825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565941496	chr8:3672846-3672847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369323855	chr8:3672852-3672853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562180642	chr8:3672862-3672863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116822084	chr8:3672863-3672864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533993639	chr8:3672875-3672876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558999198	chr8:3672908-3672909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61451314	chr8:3672922-3672923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140270666	chr8:3672928-3672929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144218848	chr8:3672945-3672946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1947909	chr8:3672955-3672956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs147368275	chr8:3672975-3672976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560442122	chr8:3672991-3672992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572591801	chr8:3673018-3673019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

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
Chordoma	21215367	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3672400-3676000	Weak transcription	Fetal Brain Male	brain
2	chr8:3673400-3673600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
3	chr8:3673400-3673600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
4	chr8:3673400-3674000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
5	chr8:3673400-3674600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:3673600-3674000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:3673600-3674000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:3673800-3674000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr8:3674000-3681600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:3675600-3676600	Enhancers	Liver	Liver
11	chr8:3676000-3676400	Enhancers	Fetal Brain Male	brain
12	chr8:3676200-3676400	Enhancers	Dnd41	blood
13	chr8:3676400-3676600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:3676400-3676800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:3679200-3679800	Enhancers	Colonic Mucosa	Colon
16	chr8:3679600-3680200	Enhancers	Fetal Kidney	kidney
17	chr8:3679800-3683000	Weak transcription	Colonic Mucosa	Colon
18	chr8:3680000-3680600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:3681600-3682200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:3681800-3682000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:3682000-3682600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:3682200-3683200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:3682600-3684200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:3683000-3683200	Enhancers	Colonic Mucosa	Colon
25	chr8:3683200-3684200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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