Variant report

Variant	nsv539378
Chromosome Location	chr8:3993976-4072886
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..4019883,4	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..4018884,3	K562	blood:

Extended variants
information (count: 2523 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:2523 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146741253	chr8:3993982-3993983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140426077	chr8:3993983-3993984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199949131	chr8:3993995-3993996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563179720	chr8:3994012-3994013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530079420	chr8:3994022-3994023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548557642	chr8:3994028-3994029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115444333	chr8:3994036-3994037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75041586	chr8:3994060-3994061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4436144	chr8:3994074-3994075	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs571139263	chr8:3994085-3994086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2407304	chr8:3994100-3994101	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566806155	chr8:3994111-3994112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs193248344	chr8:3994120-3994121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569131849	chr8:3994129-3994130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535874582	chr8:3994132-3994133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185320077	chr8:3994133-3994134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572990493	chr8:3994145-3994146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190167892	chr8:3994151-3994152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143967655	chr8:3994154-3994155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532620430	chr8:3994155-3994156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577398368	chr8:3994157-3994158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544781738	chr8:3994166-3994167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2407305	chr8:3994182-3994183	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs112884165	chr8:3994185-3994186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146417881	chr8:3994204-3994205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560078862	chr8:3994217-3994218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1647352	chr8:3994223-3994224	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552290137	chr8:3994231-3994232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564233781	chr8:3994250-3994251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117998050	chr8:3994251-3994252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149040190	chr8:3994264-3994265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529965951	chr8:3994266-3994267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548229978	chr8:3994283-3994284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78759551	chr8:3994306-3994307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533753950	chr8:3994312-3994313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7824138	chr8:3994313-3994314	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs143077183	chr8:3994314-3994315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192754591	chr8:3994321-3994322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556674897	chr8:3994322-3994323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575044902	chr8:3994341-3994342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184040884	chr8:3994356-3994357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555012151	chr8:3994357-3994358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35172369	chr8:3994380-3994381	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs386721225	chr8:3994389-3994390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1647353	chr8:3994390-3994391	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs188331267	chr8:3994396-3994397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141022087	chr8:3994400-3994401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544093244	chr8:3994406-3994407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562675695	chr8:3994413-3994414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546422701	chr8:3994414-3994415	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
Ependymoma	20639864	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3993800-3994800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:3993800-3994800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:3994000-3994600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr8:3994000-3994800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:3994000-3994800	Enhancers	Brain Germinal Matrix	brain
6	chr8:3994800-3999800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:3997000-3997200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:3999800-4000000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:4000000-4001200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:4001200-4001800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:4001400-4001600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:4001400-4001800	Enhancers	Fetal Lung	lung
13	chr8:4010800-4011000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr8:4010800-4011400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:4010800-4011400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:4010800-4011400	Enhancers	Fetal Muscle Leg	muscle
17	chr8:4011000-4011400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:4012800-4013400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr8:4012800-4013600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr8:4024400-4025000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:4024400-4025000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr8:4024600-4025000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:4026400-4027200	Enhancers	HepG2	liver
24	chr8:4028400-4028600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:4028400-4028600	Enhancers	Pancreas	Pancrea
26	chr8:4031400-4031600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:4049000-4049400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr8:4049000-4049800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:4049200-4049400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr8:4049200-4049800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr8:4049200-4050200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr8:4049200-4050200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr8:4049200-4050400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr8:4049400-4049600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr8:4049400-4049600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr8:4049400-4049800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:4049400-4049800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr8:4049400-4049800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr8:4049400-4050000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:4049400-4050600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr8:4049400-4051200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr8:4049600-4049800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr8:4049800-4050000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr8:4049800-4050400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr8:4049800-4051000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:4049800-4054000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:4050000-4050600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr8:4050400-4051800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr8:4050600-4051000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr8:4050600-4053800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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