Variant report

Variant	nsv971620
Chromosome Location	chr8:3897194-3968404
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6465 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:6465 , 50 per page) page: 1 2 3 4 5 6 7 ... 130

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563661327	chr8:3897198-3897199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546291967	chr8:3897200-3897201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534083676	chr8:3897202-3897203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530852229	chr8:3897203-3897204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542711045	chr8:3897222-3897223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561075944	chr8:3897240-3897241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529040464	chr8:3897243-3897244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547157518	chr8:3897258-3897259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565755269	chr8:3897270-3897271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533204026	chr8:3897272-3897273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368976332	chr8:3897273-3897274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551394366	chr8:3897274-3897275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530683208	chr8:3897275-3897276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537089830	chr8:3897279-3897280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555479789	chr8:3897304-3897305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567402266	chr8:3897309-3897310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372510304	chr8:3897338-3897339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144884945	chr8:3897341-3897342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180777342	chr8:3897352-3897353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78031273	chr8:3897354-3897355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545673355	chr8:3897359-3897360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs578246131	chr8:3897360-3897361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148185942	chr8:3897385-3897386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186066715	chr8:3897390-3897391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190576041	chr8:3897392-3897393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182296768	chr8:3897396-3897397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114406501	chr8:3897402-3897403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559461159	chr8:3897404-3897405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554403626	chr8:3897409-3897410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551652399	chr8:3897428-3897429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569880565	chr8:3897433-3897434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530504650	chr8:3897435-3897436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76388829	chr8:3897444-3897445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567811428	chr8:3897448-3897449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186954688	chr8:3897459-3897460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534663565	chr8:3897473-3897474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552833300	chr8:3897476-3897477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542861084	chr8:3897484-3897485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571807459	chr8:3897485-3897486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538887874	chr8:3897499-3897500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190449008	chr8:3897501-3897502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17068675	chr8:3897525-3897526	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542933655	chr8:3897552-3897553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78004217	chr8:3897570-3897571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554498966	chr8:3897584-3897585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141157774	chr8:3897597-3897598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150727356	chr8:3897627-3897628	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs117655543	chr8:3897638-3897639	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs139079541	chr8:3897639-3897640	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs573259183	chr8:3897650-3897651	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:127)

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

Chromatin state (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3889600-3904400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:3896000-3897800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:3896000-3898200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:3896200-3897400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:3896200-3897600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:3896200-3899200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:3896400-3897400	Enhancers	Adipose Nuclei	Adipose
8	chr8:3896400-3898200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr8:3896600-3897400	Enhancers	Liver	Liver
10	chr8:3896600-3898400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:3896600-3898400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:3896800-3897200	Enhancers	Fetal Muscle Leg	muscle
13	chr8:3896800-3897400	Enhancers	Fetal Heart	heart
14	chr8:3896800-3897600	Enhancers	Fetal Lung	lung
15	chr8:3896800-3898000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:3896800-3898400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:3897000-3897400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr8:3897000-3897600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr8:3897400-3897800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:3897400-3904200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:3897600-3898200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr8:3897600-3899400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:3897800-3898400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr8:3898400-3899800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr8:3899400-3899600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:3899800-3900000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr8:3899800-3900800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:3902000-3902800	Enhancers	Fetal Brain Male	brain
29	chr8:3902200-3902400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:3902200-3902400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:3902600-3904800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:3904200-3904800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr8:3904200-3905000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:3904200-3905000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:3904400-3904800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:3904800-3907600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:3904800-3908400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:3905000-3908400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:3905000-3908400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:3907400-3909000	Enhancers	H9 Cell Line	embryonic stem cell
41	chr8:3907600-3910000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr8:3908200-3908800	Enhancers	Brain Anterior Caudate	brain
43	chr8:3908400-3908600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:3908400-3908800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:3908400-3909000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:3908400-3909000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr8:3908400-3909000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr8:3908400-3909000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr8:3908400-3909200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:3908600-3909400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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