Variant report

Variant	nsv465362
Chromosome Location	chr8:3808927-3819123
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:3804589..3807144-chr8:3807916..3809896,2	K562	blood:
2	chr8:3809576..3811430-chr8:3818354..3821115,2	K562	blood:
3	chr8:3809576..3811430-chr8:3818354..3821115,2	K562	blood:

Extended variants
information (count: 602 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:602 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2912292	chr8:3808927-3808928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139313267	chr8:3808933-3808934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544297127	chr8:3808952-3808953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556279169	chr8:3808964-3808965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6989746	chr8:3808968-3808969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542436492	chr8:3808972-3808973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561203269	chr8:3808991-3808992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79509875	chr8:3808993-3808994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12056817	chr8:3809002-3809003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529247093	chr8:3809012-3809013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540181200	chr8:3809041-3809042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144080768	chr8:3809045-3809046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532188171	chr8:3809071-3809072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556525863	chr8:3809089-3809090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113514571	chr8:3809104-3809105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371124792	chr8:3809124-3809125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562596379	chr8:3809132-3809133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530286759	chr8:3809142-3809143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549149113	chr8:3809150-3809151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548510903	chr8:3809166-3809167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76868624	chr8:3809172-3809173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569527472	chr8:3809173-3809174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368177062	chr8:3809193-3809194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570502782	chr8:3809199-3809200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537877130	chr8:3809201-3809202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190692304	chr8:3809213-3809214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574609370	chr8:3809231-3809232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538182596	chr8:3809246-3809247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551541343	chr8:3809252-3809253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371959724	chr8:3809273-3809274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113327964	chr8:3809278-3809279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182477112	chr8:3809287-3809288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565220820	chr8:3809298-3809299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576883276	chr8:3809300-3809301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187846256	chr8:3809310-3809311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544244294	chr8:3809313-3809314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190861784	chr8:3809319-3809320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534147311	chr8:3809354-3809355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183373136	chr8:3809356-3809357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552606265	chr8:3809360-3809361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143472181	chr8:3809377-3809378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7015310	chr8:3809390-3809391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs2554513	chr8:3809397-3809398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs368247865	chr8:3809398-3809399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552578681	chr8:3809412-3809413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367958398	chr8:3809445-3809446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11363252	chr8:3809446-3809447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113087702	chr8:3809468-3809469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143454276	chr8:3809481-3809482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75789644	chr8:3809487-3809488	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
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

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3794200-3810000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:3808200-3809600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:3809600-3810000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:3809600-3810200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:3810000-3810400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:3810200-3811400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:3811200-3811600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:3811400-3811600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:3813800-3814400	Enhancers	HepG2	liver
10	chr8:3816200-3816400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:3816200-3816400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:3816200-3817600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:3816400-3817000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:3816400-3817200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:3817000-3817600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:3817200-3818000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:3817600-3821000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:3817600-3821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr8:3818000-3824000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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