Variant report

Variant	nsv1015148
Chromosome Location	chr8:3889535-4103403
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4010079..4014350-chr8:4015920..4018884,3	K562	blood:
2	chr8:4091582..4092324-chr8:4399511..4400398,2	MCF-7	breast:
3	chr8:4010079..4014350-chr8:4015920..4019883,4	K562	blood:
4	chr8:4010079..4014350-chr8:4015920..4018884,3	K562	blood:
5	chr8:4091951..4092554-chr8:4399113..4400010,2	MCF-7	breast:
6	chr8:4092133..4092721-chr8:4257157..4257997,2	MCF-7	breast:
7	chr8:4010079..4014350-chr8:4015920..4019883,4	K562	blood:

Extended variants
information (count: 12885 )
Associated
traits (count: 131 )

Variant overlapped rSNPs/rCNVs (count:12885 , 50 per page) page: 1 2 3 4 5 6 7 ... 258

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200132698	chr8:3889535-3889536	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571852185	chr8:3889536-3889537	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376282969	chr8:3889547-3889548	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539022079	chr8:3889549-3889550	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144487969	chr8:3889551-3889552	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111253069	chr8:3889560-3889561	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377017264	chr8:3889561-3889562	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375282959	chr8:3889564-3889565	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569320965	chr8:3889569-3889570	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536379197	chr8:3889587-3889588	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369926934	chr8:3889591-3889592	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548910975	chr8:3889595-3889596	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374327987	chr8:3889613-3889614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377721739	chr8:3889625-3889626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369308070	chr8:3889627-3889628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190192421	chr8:3889634-3889635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534519967	chr8:3889639-3889640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377228579	chr8:3889643-3889644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370395424	chr8:3889654-3889655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374337021	chr8:3889668-3889669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147854518	chr8:3889669-3889670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540640907	chr8:3889676-3889677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79586223	chr8:3889679-3889680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570323628	chr8:3889682-3889683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112962433	chr8:3889683-3889684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141474624	chr8:3889688-3889689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185212158	chr8:3889707-3889708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543212137	chr8:3889709-3889710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146925162	chr8:3889720-3889721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370955447	chr8:3889726-3889727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547254861	chr8:3889727-3889728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563134500	chr8:3889728-3889729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532720112	chr8:3889753-3889754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147993363	chr8:3889759-3889760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72624013	chr8:3889764-3889765	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs140771501	chr8:3889787-3889788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150116241	chr8:3889789-3889790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375289438	chr8:3889804-3889805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190813038	chr8:3889805-3889806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113421383	chr8:3889820-3889821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544332414	chr8:3889821-3889822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368976503	chr8:3889822-3889823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577854949	chr8:3889827-3889828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538523817	chr8:3889828-3889829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557244157	chr8:3889833-3889834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575264367	chr8:3889842-3889843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138245685	chr8:3889845-3889846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554694597	chr8:3889851-3889852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184092848	chr8:3889855-3889856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79812690	chr8:3889865-3889866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:131)

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
Tetralogy of Fallot	22912587	CNVD
Schizophrenia	23813976	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ependymoma	20639864	CNVD
Schizophrenia	21346763	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3889400-3889600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:3889400-3889600	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:3889600-3896000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:3889600-3904400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:3896000-3897800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:3896000-3898200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:3896200-3896400	Enhancers	Fetal Lung	lung
8	chr8:3896200-3896400	Enhancers	Fetal Muscle Leg	muscle
9	chr8:3896200-3897000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr8:3896200-3897000	Enhancers	Brain Angular Gyrus	brain
11	chr8:3896200-3897400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:3896200-3897600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:3896200-3899200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:3896400-3896800	Flanking Active TSS	Fetal Lung	lung
15	chr8:3896400-3896800	Active TSS	Fetal Muscle Leg	muscle
16	chr8:3896400-3897000	Active TSS	Brain Anterior Caudate	brain
17	chr8:3896400-3897400	Enhancers	Adipose Nuclei	Adipose
18	chr8:3896400-3898200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr8:3896600-3897400	Enhancers	Liver	Liver
20	chr8:3896600-3898400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr8:3896600-3898400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr8:3896800-3897200	Enhancers	Fetal Muscle Leg	muscle
23	chr8:3896800-3897400	Enhancers	Fetal Heart	heart
24	chr8:3896800-3897600	Enhancers	Fetal Lung	lung
25	chr8:3896800-3898000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr8:3896800-3898400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr8:3897000-3897400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr8:3897000-3897600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr8:3897400-3897800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:3897400-3904200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:3897600-3898200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr8:3897600-3899400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:3897800-3898400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr8:3898400-3899800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr8:3899400-3899600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:3899800-3900000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr8:3899800-3900800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:3902000-3902800	Enhancers	Fetal Brain Male	brain
39	chr8:3902200-3902400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:3902200-3902400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:3902600-3904800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:3904200-3904800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr8:3904200-3905000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:3904200-3905000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:3904400-3904800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:3904800-3907600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:3904800-3908400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:3905000-3908400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:3905000-3908400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:3907400-3909000	Enhancers	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links