Variant report

Variant	nsv1016688
Chromosome Location	chr8:3754417-4003761
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:3823058..3824890-chr8:3826094..3828395,2	K562	blood:
2	chr8:3862970..3864915-chr8:3867415..3869991,2	K562	blood:
3	chr8:3862970..3864915-chr8:3867415..3869991,2	K562	blood:
4	chr8:3809576..3811430-chr8:3818354..3821115,2	K562	blood:
5	chr8:3804589..3807144-chr8:3807916..3809896,2	K562	blood:
6	chr8:3675597..3677848-chr8:3833927..3836270,2	K562	blood:
7	chr8:3804589..3807144-chr8:3807916..3809896,2	K562	blood:
8	chr8:3823058..3824890-chr8:3826094..3828395,2	K562	blood:
9	chr8:3809576..3811430-chr8:3818354..3821115,2	K562	blood:

No data

Extended variants
information (count: 18649 )
Associated
traits (count: 131 )

Variant overlapped rSNPs/rCNVs (count:18649 , 50 per page) page: 1 2 3 4 5 6 7 ... 373

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141516181	chr8:3755400-3755401	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs559022743	chr8:3755404-3755405	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs567274303	chr8:3755434-3755435	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs77236965	chr8:3755442-3755443	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs571761457	chr8:3755455-3755456	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs187004080	chr8:3755459-3755460	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs556559257	chr8:3755469-3755470	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs545512424	chr8:3755472-3755473	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs562949610	chr8:3755476-3755477	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs542508674	chr8:3755492-3755493	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs554099903	chr8:3755493-3755494	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs572585738	chr8:3755501-3755502	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs546046029	chr8:3755502-3755503	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs564661875	chr8:3755505-3755506	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs374382655	chr8:3755507-3755508	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs192763682	chr8:3755508-3755509	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs543844727	chr8:3755511-3755512	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs562139907	chr8:3755523-3755524	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs150886937	chr8:3755525-3755526	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs548446908	chr8:3755526-3755527	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs184413879	chr8:3755541-3755542	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs139398099	chr8:3755589-3755590	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs149646522	chr8:3755599-3755600	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs570969335	chr8:3755612-3755613	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs559323316	chr8:3755614-3755615	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs556644467	chr8:3755623-3755624	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs189038251	chr8:3755629-3755630	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs535807791	chr8:3755644-3755645	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs554464714	chr8:3755656-3755657	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs572624474	chr8:3755664-3755665	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs11136675	chr8:3755691-3755692	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs573022431	chr8:3755695-3755696	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs2627427	chr8:3755696-3755697	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs576577392	chr8:3755697-3755698	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs146050166	chr8:3755698-3755699	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs192759334	chr8:3755703-3755704	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs376146754	chr8:3755713-3755714	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs541431875	chr8:3755729-3755730	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs140029524	chr8:3755738-3755739	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs3107683	chr8:3755739-3755740	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs184740698	chr8:3755771-3755772	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs3107682	chr8:3755775-3755776	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs527553769	chr8:3755784-3755785	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs114704480	chr8:3755786-3755787	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs143645826	chr8:3755795-3755796	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs201141423	chr8:3755800-3755801	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs555552064	chr8:3757617-3757618	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146313644	chr8:3757622-3757623	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539882762	chr8:3757626-3757627	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564536903	chr8:3757628-3757629	ZNF genes & repeats Enhancers	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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20531469	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3755400-3755800	Active TSS	Lung	lung
2	chr8:3757600-3758000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:3757600-3758400	Enhancers	Pancreas	Pancrea
4	chr8:3765200-3765600	Enhancers	Fetal Heart	heart
5	chr8:3766600-3768800	Enhancers	Fetal Muscle Leg	muscle
6	chr8:3779200-3779600	Enhancers	Fetal Brain Male	brain
7	chr8:3791200-3791600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:3791600-3793800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:3793800-3794200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
10	chr8:3794200-3810000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:3795800-3796400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:3807200-3808200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:3807800-3808200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr8:3807800-3808200	Enhancers	Pancreas	Pancrea
15	chr8:3808200-3809600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:3809600-3810000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:3809600-3810200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:3810000-3810400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:3810200-3811400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:3811200-3811600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:3811400-3811600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:3813800-3814400	Enhancers	HepG2	liver
23	chr8:3816200-3816400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr8:3816200-3816400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:3816200-3817600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr8:3816400-3817000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:3816400-3817200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:3817000-3817600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr8:3817200-3818000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:3817600-3821000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr8:3817600-3821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr8:3818000-3824000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:3819800-3820400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:3820000-3820200	Flanking Bivalent TSS/Enh	HepG2	liver
35	chr8:3820400-3823600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:3821000-3821600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:3821000-3822800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr8:3821200-3821400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:3821200-3822000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr8:3821200-3822600	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr8:3821400-3821600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:3821400-3822400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr8:3821400-3822400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:3821400-3822800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr8:3821400-3823000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr8:3821400-3823000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr8:3821600-3822000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:3821600-3822000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:3821600-3822200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr8:3821800-3822200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links