Variant report

Variant	nsv429840
Chromosome Location	chr8:3597556-3655357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:3609055..3609589-chr8:3648173..3649150,2	MCF-7	breast:
2	chr8:3609055..3609589-chr8:3648173..3649150,2	MCF-7	breast:
3	chr12:57145579..57146089-chr8:3611408..3611928,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000198056	chromatin interactions
ENSG00000025423	chromatin interactions

Extended variants
information (count: 3111 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:3111 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2720834	chr8:3597556-3597557	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs578207578	chr8:3597560-3597561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149576888	chr8:3597570-3597571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563874117	chr8:3597584-3597585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17063149	chr8:3597586-3597587	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs80044081	chr8:3597594-3597595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561724274	chr8:3597595-3597596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144240128	chr8:3597607-3597608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528913031	chr8:3597616-3597617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2954230	chr8:3597621-3597622	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559351458	chr8:3597643-3597644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533081549	chr8:3597658-3597659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528465500	chr8:3597674-3597675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2954231	chr8:3597676-3597677	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs569524776	chr8:3597677-3597678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530907729	chr8:3597689-3597690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548186199	chr8:3597691-3597692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35023732	chr8:3597699-3597700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549238876	chr8:3597703-3597704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183072389	chr8:3597738-3597739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112084288	chr8:3597744-3597745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536046727	chr8:3597746-3597747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2954232	chr8:3597750-3597751	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs571920488	chr8:3597767-3597768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76835496	chr8:3597794-3597795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7831409	chr8:3597800-3597801	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs188158311	chr8:3597812-3597813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376247665	chr8:3597829-3597830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575959209	chr8:3597845-3597846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543523943	chr8:3597847-3597848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557095330	chr8:3597848-3597849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555208990	chr8:3597871-3597872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570698983	chr8:3597893-3597894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184557689	chr8:3597921-3597922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540642476	chr8:3597936-3597937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559303482	chr8:3597939-3597940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2720835	chr8:3597943-3597944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs80236958	chr8:3597944-3597945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2623711	chr8:3597950-3597951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs530650595	chr8:3597957-3597958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558367837	chr8:3597961-3597962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567625797	chr8:3597983-3597984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2623712	chr8:3597987-3597988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs2720836	chr8:3597997-3597998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs571707348	chr8:3597998-3597999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73187277	chr8:3598008-3598009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs189803462	chr8:3598009-3598010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142467201	chr8:3598035-3598036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536414031	chr8:3598036-3598037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555166868	chr8:3598038-3598039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
Ovarian cancer	22355333	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
Osteosarcoma	21215367	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3592800-3600400	Weak transcription	Pancreas	Pancrea
2	chr8:3596600-3597800	Enhancers	Liver	Liver
3	chr8:3597400-3599200	Weak transcription	Fetal Intestine Large	intestine
4	chr8:3597400-3599200	Weak transcription	Fetal Intestine Small	intestine
5	chr8:3599200-3599800	Enhancers	Fetal Intestine Small	intestine
6	chr8:3599200-3600800	Enhancers	Fetal Intestine Large	intestine
7	chr8:3599800-3600200	Weak transcription	Fetal Intestine Small	intestine
8	chr8:3600200-3602400	Enhancers	Fetal Intestine Small	intestine
9	chr8:3600400-3600800	Enhancers	Pancreas	Pancrea
10	chr8:3616000-3617200	Enhancers	Fetal Intestine Small	intestine
11	chr8:3616200-3617000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr8:3616200-3617200	Enhancers	Fetal Intestine Large	intestine
13	chr8:3616800-3617000	Enhancers	Brain Anterior Caudate	brain
14	chr8:3617200-3618400	Weak transcription	Brain Anterior Caudate	brain
15	chr8:3617200-3621000	Weak transcription	Fetal Intestine Small	intestine
16	chr8:3617400-3618200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr8:3617400-3618400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr8:3617600-3618000	Enhancers	Fetal Lung	lung
19	chr8:3618200-3624400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:3618400-3618600	Enhancers	Brain Anterior Caudate	brain
21	chr8:3618400-3618800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr8:3621000-3621600	Enhancers	Fetal Intestine Small	intestine
23	chr8:3621200-3622200	Enhancers	Fetal Muscle Leg	muscle
24	chr8:3621600-3621800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:3621600-3621800	Enhancers	Fetal Muscle Trunk	muscle
26	chr8:3621800-3624600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:3622000-3623200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr8:3622200-3623200	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:3622600-3623800	Enhancers	HMEC	breast
30	chr8:3623000-3623600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:3623000-3623600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:3623200-3624600	Enhancers	Fetal Muscle Trunk	muscle
33	chr8:3623200-3625000	Enhancers	Fetal Muscle Leg	muscle
34	chr8:3624400-3624600	Enhancers	Brain Germinal Matrix	brain
35	chr8:3624400-3625000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr8:3624400-3625000	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr8:3624600-3624800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr8:3624600-3625000	Enhancers	Brain Anterior Caudate	brain
39	chr8:3624600-3625000	Active TSS	Brain Cingulate Gyrus	brain
40	chr8:3624600-3625000	Enhancers	Fetal Brain Male	brain
41	chr8:3624600-3625000	Enhancers	Fetal Lung	lung
42	chr8:3624600-3625200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:3624800-3625200	Enhancers	Brain Substantia Nigra	brain
44	chr8:3625000-3636400	Weak transcription	Fetal Brain Male	brain
45	chr8:3626200-3626800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr8:3626200-3626800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr8:3626200-3626800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr8:3626800-3631400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:3628800-3629600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:3629600-3633400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links