Variant report

Variant	nsv889913
Chromosome Location	chr8:3747899-3832731
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:3804589..3807144-chr8:3807916..3809896,2	K562	blood:
2	chr8:3823058..3824890-chr8:3826094..3828395,2	K562	blood:
3	chr8:3823058..3824890-chr8:3826094..3828395,2	K562	blood:
4	chr8:3809576..3811430-chr8:3818354..3821115,2	K562	blood:
5	chr8:3804589..3807144-chr8:3807916..3809896,2	K562	blood:
6	chr8:3809576..3811430-chr8:3818354..3821115,2	K562	blood:

Extended variants
information (count: 4248 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:4248 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142665457	chr8:3751015-3751016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114054977	chr8:3751025-3751026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74323064	chr8:3751054-3751055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563824878	chr8:3751069-3751070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530859924	chr8:3751070-3751071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548972974	chr8:3751079-3751080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145719754	chr8:3751102-3751103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187295191	chr8:3751104-3751105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543716596	chr8:3751108-3751109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191629734	chr8:3751125-3751126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12550243	chr8:3751130-3751131	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs62480071	chr8:3751155-3751156	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551053911	chr8:3751165-3751166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571783161	chr8:3751181-3751182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539236387	chr8:3751220-3751221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554334774	chr8:3751274-3751275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75664054	chr8:3751276-3751277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148945432	chr8:3751308-3751309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371053964	chr8:3751314-3751315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183462743	chr8:3751315-3751316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188233103	chr8:3751317-3751318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541375106	chr8:3751330-3751331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559702603	chr8:3751345-3751346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577829555	chr8:3751360-3751361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143713275	chr8:3751363-3751364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563295915	chr8:3751364-3751365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531072677	chr8:3751384-3751385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78927996	chr8:3751386-3751387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373434089	chr8:3751421-3751422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148021665	chr8:3751425-3751426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141003985	chr8:3751444-3751445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377430253	chr8:3751459-3751460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546555726	chr8:3751464-3751465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190438148	chr8:3751473-3751474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182200164	chr8:3751477-3751478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538924320	chr8:3751483-3751484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562098907	chr8:3751556-3751557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186936354	chr8:3751580-3751581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73495921	chr8:3751583-3751584	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs537173289	chr8:3751599-3751600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555488229	chr8:3751607-3751608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191489793	chr8:3751617-3751618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185575567	chr8:3751620-3751621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552645298	chr8:3751626-3751627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74807343	chr8:3751667-3751668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371225411	chr8:3751678-3751679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544962720	chr8:3751688-3751689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557166010	chr8:3751690-3751691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188792094	chr8:3751699-3751700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138751753	chr8:3751705-3751706	Enhancers	n/a	n/a	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20531469	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3751000-3751600	Enhancers	H9 Cell Line	embryonic stem cell
2	chr8:3751200-3751400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr8:3751200-3751600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr8:3751200-3751800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr8:3751400-3751600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:3755400-3755800	Active TSS	Lung	lung
7	chr8:3757600-3758000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:3757600-3758400	Enhancers	Pancreas	Pancrea
9	chr8:3765200-3765600	Enhancers	Fetal Heart	heart
10	chr8:3766600-3768800	Enhancers	Fetal Muscle Leg	muscle
11	chr8:3779200-3779600	Enhancers	Fetal Brain Male	brain
12	chr8:3791200-3791600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:3791600-3793800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:3793800-3794200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
15	chr8:3794200-3810000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:3795800-3796400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:3807200-3808200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:3807800-3808200	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr8:3807800-3808200	Enhancers	Pancreas	Pancrea
20	chr8:3808200-3809600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:3809600-3810000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:3809600-3810200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:3810000-3810400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr8:3810200-3811400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:3811200-3811600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:3811400-3811600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:3813800-3814400	Enhancers	HepG2	liver
28	chr8:3816200-3816400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr8:3816200-3816400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:3816200-3817600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr8:3816400-3817000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:3816400-3817200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:3817000-3817600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr8:3817200-3818000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:3817600-3821000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr8:3817600-3821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:3818000-3824000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:3819800-3820400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr8:3820000-3820200	Flanking Bivalent TSS/Enh	HepG2	liver
40	chr8:3820400-3823600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:3821000-3821600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:3821000-3822800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr8:3821200-3821400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:3821200-3822000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr8:3821200-3822600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr8:3821400-3821600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:3821400-3822400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr8:3821400-3822400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:3821400-3822800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr8:3821400-3823000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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