Variant report

Variant	nsv517894
Chromosome Location	chr8:3942072-4033186
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	chr8:4010079..4014350-chr8:4015920..4019883,4	K562	blood:
3	chr8:4010079..4014350-chr8:4015920..4018884,3	K562	blood:
4	chr8:4010079..4014350-chr8:4015920..4019883,4	K562	blood:

Extended variants
information (count: 4788 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:4788 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2554644	chr8:3942072-3942073	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541325751	chr8:3942076-3942077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144554039	chr8:3942077-3942078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536794022	chr8:3942081-3942082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376647690	chr8:3942083-3942084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371547802	chr8:3942095-3942096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553427457	chr8:3942096-3942097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561633420	chr8:3942101-3942102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76290999	chr8:3942112-3942113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567798334	chr8:3942118-3942119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534868255	chr8:3942120-3942121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553272446	chr8:3942124-3942125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577881048	chr8:3942131-3942132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs118183405	chr8:3942132-3942133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113568129	chr8:3942141-3942142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370724464	chr8:3942143-3942144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2552151	chr8:3942150-3942151	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs368756744	chr8:3942151-3942152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542354349	chr8:3942184-3942185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187962667	chr8:3942190-3942191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543400653	chr8:3942214-3942215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17332062	chr8:3942221-3942222	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs530950568	chr8:3942236-3942237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559696873	chr8:3942247-3942248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532060997	chr8:3942254-3942255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28690185	chr8:3942268-3942269	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs569591166	chr8:3942271-3942272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13265700	chr8:3942273-3942274	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs548834727	chr8:3942277-3942278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567328007	chr8:3942309-3942310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2554645	chr8:3942311-3942312	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191484437	chr8:3942316-3942317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571610073	chr8:3942334-3942335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538993208	chr8:3942354-3942355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546926914	chr8:3942363-3942364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547181896	chr8:3942376-3942377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528304595	chr8:3942380-3942381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557621444	chr8:3942397-3942398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528572223	chr8:3942440-3942441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575582116	chr8:3942441-3942442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs151214897	chr8:3942443-3942444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs28374004	chr8:3942453-3942454	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs371483321	chr8:3942454-3942455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554783231	chr8:3942467-3942468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573336715	chr8:3942469-3942470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184016279	chr8:3942471-3942472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs62501304	chr8:3942511-3942512	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs577902778	chr8:3942512-3942513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545009749	chr8:3942513-3942514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35195791	chr8:3942519-3942520	Weak transcription 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
Tetralogy of Fallot	22912587	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3938600-3942200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:3941400-3942200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:3941400-3943000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr8:3941800-3942200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:3942000-3942200	Enhancers	H9 Cell Line	embryonic stem cell
6	chr8:3942000-3942400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr8:3942000-3942600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:3942000-3942800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:3942200-3942400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:3942200-3942400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:3942200-3944600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:3942200-3944800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:3942400-3944800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr8:3942400-3945200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:3942600-3944400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:3942800-3944600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:3943000-3944400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:3944400-3944800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:3944400-3945200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:3944600-3944800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:3944600-3944800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr8:3944600-3945000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:3944600-3945200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr8:3944600-3946800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:3944800-3945000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr8:3944800-3945000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr8:3944800-3946400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:3945000-3945400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:3945000-3945400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:3945200-3946800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:3945400-3945800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr8:3945400-3945800	Enhancers	H9 Cell Line	embryonic stem cell
33	chr8:3945600-3946000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr8:3946400-3946800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:3953800-3955200	Enhancers	Fetal Brain Female	brain
36	chr8:3954200-3954800	Enhancers	Fetal Brain Male	brain
37	chr8:3958000-3958400	Enhancers	Liver	Liver
38	chr8:3958400-3958600	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr8:3958400-3958600	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr8:3958400-3959000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:3958400-3959000	Flanking Active TSS	Liver	Liver
42	chr8:3958400-3959600	Enhancers	Fetal Muscle Leg	muscle
43	chr8:3958600-3958800	Active TSS	Adipose Nuclei	Adipose
44	chr8:3958600-3959600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr8:3958600-3959600	Enhancers	Fetal Lung	lung
46	chr8:3958600-3962200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr8:3958600-3963800	Enhancers	HepG2	liver
48	chr8:3958800-3959000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:3958800-3959000	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr8:3958800-3959600	Enhancers	Pancreas	Pancrea

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