Variant report

Variant	nsv968500
Chromosome Location	chr8:6219148-6226838
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6221816..6223744-chr8:6224650..6226459,2	K562	blood:
2	chr8:6221816..6223744-chr8:6224650..6226459,2	K562	blood:

Extended variants
information (count: 253 )
Associated
traits (count: 134 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532319092	chr8:6219166-6219167	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552407880	chr8:6219170-6219171	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142048797	chr8:6219171-6219172	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185904994	chr8:6219178-6219179	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531729306	chr8:6219195-6219196	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548741489	chr8:6219207-6219208	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568554195	chr8:6219212-6219213	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191552654	chr8:6219222-6219223	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534425058	chr8:6219254-6219255	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151155151	chr8:6219256-6219257	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530539076	chr8:6219275-6219276	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554432152	chr8:6219282-6219283	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570993293	chr8:6219283-6219284	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527323446	chr8:6219297-6219298	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539745536	chr8:6219335-6219336	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73510125	chr8:6219355-6219356	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs560407378	chr8:6219366-6219367	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2916694	chr8:6219368-6219369	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs527761178	chr8:6219372-6219373	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181193920	chr8:6219378-6219379	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139977269	chr8:6219380-6219381	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549140936	chr8:6219385-6219386	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200495381	chr8:6219400-6219401	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149854174	chr8:6219401-6219402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532287384	chr8:6219405-6219406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186176095	chr8:6219411-6219412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371528638	chr8:6219423-6219424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562793446	chr8:6219426-6219427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145788694	chr8:6219493-6219494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548583055	chr8:6219503-6219504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2916693	chr8:6219507-6219508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs371819377	chr8:6219509-6219510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145832480	chr8:6219526-6219527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146570832	chr8:6219534-6219535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550239182	chr8:6219542-6219543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570306923	chr8:6219543-6219544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369905377	chr8:6219562-6219563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535719499	chr8:6219572-6219573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57467684	chr8:6219574-6219575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs574055065	chr8:6219587-6219588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533644585	chr8:6219588-6219589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553448274	chr8:6219596-6219597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2916692	chr8:6219598-6219599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs545964994	chr8:6219621-6219622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562670608	chr8:6219629-6219630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532997626	chr8:6219630-6219631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576310253	chr8:6219632-6219633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7009193	chr8:6219641-6219642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs562077070	chr8:6219652-6219653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112265191	chr8:6219659-6219660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:134)

Disease	PMID	Source
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
Prostate cancer	16573809	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
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
Cancer	20164920	CNVD
Myelofibrosis	22110671	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
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6216800-6219800	Weak transcription	Pancreas	Pancrea
2	chr8:6218400-6219200	Active TSS	Duodenum Mucosa	Duodenum
3	chr8:6218400-6219200	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr8:6218400-6219200	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr8:6218400-6219200	Active TSS	Monocytes-CD14+_RO01746	blood
6	chr8:6218600-6219200	Active TSS	Primary monocytes fromperipheralblood	blood
7	chr8:6218600-6219200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:6218600-6219200	Active TSS	Adipose Nuclei	Adipose
9	chr8:6218800-6219200	Active TSS	Primary B cells from peripheral blood	blood
10	chr8:6218800-6219200	Active TSS	Primary hematopoietic stem cells	blood
11	chr8:6218800-6219200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr8:6218800-6219200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:6218800-6219200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:6218800-6219200	Active TSS	Brain Anterior Caudate	brain
15	chr8:6219000-6219200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:6219200-6219400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:6219200-6219400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr8:6219800-6220000	ZNF genes & repeats	Pancreas	Pancrea
19	chr8:6220000-6220200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:6220200-6221200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:6223600-6224600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr8:6223800-6224400	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links