Variant report

Variant	nsv972539
Chromosome Location	chr8:68379241-68387366
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:68374251..68375769-chr8:68379292..68381430,2	K562	blood:
2	chr8:68383395..68385831-chr8:68389032..68390894,2	K562	blood:
3	chr8:68254292..68256059-chr8:68386876..68388954,2	MCF-7	breast:
4	chr8:68254361..68257191-chr8:68383112..68385450,2	MCF-7	breast:
5	chr8:68385385..68387759-chr8:68394153..68396040,2	K562	blood:
6	chr8:68365566..68368433-chr8:68381648..68383553,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSPP1-1	chr8:68379627-68379702	NONHSAT127083
2	lnc-CSPP1-1	chr8:68379627-68379702	ENSG00000245424

No data

Variant related genes	Relation type
ENSG00000066777	chromatin interactions
ENSG00000271966	chromatin interactions
HOXC8	miRNA target sites

Extended variants
information (count: 305 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11774013	chr8:68379257-68379258	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539273124	chr8:68379362-68379363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184984467	chr8:68379375-68379376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117718709	chr8:68379390-68379391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147369431	chr8:68379391-68379392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375414929	chr8:68379438-68379439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553496183	chr8:68379456-68379457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573532492	chr8:68379475-68379476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542251836	chr8:68379476-68379477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116528949	chr8:68379584-68379585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139050940	chr8:68379621-68379622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544831029	chr8:68379630-68379631	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs574592354	chr8:68379708-68379709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112736316	chr8:68379724-68379725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189392125	chr8:68379769-68379770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376421910	chr8:68379805-68379806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527791166	chr8:68379807-68379808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192738927	chr8:68379826-68379827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574382355	chr8:68379871-68379872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541732696	chr8:68379880-68379881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184301578	chr8:68379890-68379891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563297403	chr8:68379901-68379902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369736721	chr8:68379905-68379906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570358680	chr8:68379910-68379911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75317462	chr8:68379925-68379926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536703659	chr8:68379940-68379941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532827571	chr8:68379950-68379951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552821776	chr8:68379959-68379960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371933644	chr8:68379960-68379961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149872162	chr8:68379966-68379967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs67295106	chr8:68379973-68379974	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs374662853	chr8:68380003-68380004	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144412973	chr8:68380012-68380013	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189502290	chr8:68380019-68380020	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148796721	chr8:68380062-68380063	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575951701	chr8:68380100-68380101	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544868085	chr8:68380109-68380110	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558334516	chr8:68380117-68380118	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539603315	chr8:68380121-68380122	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139839979	chr8:68380149-68380150	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56971290	chr8:68380150-68380151	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561468685	chr8:68380167-68380168	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530117542	chr8:68380180-68380181	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543823089	chr8:68380218-68380219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563503067	chr8:68380249-68380250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181802648	chr8:68380271-68380272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184449160	chr8:68380280-68380281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528612383	chr8:68380333-68380334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566370758	chr8:68380369-68380370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528734754	chr8:68380413-68380414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Salivary gland tumor	18059337	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Aortic dissecting aneurysms	22263138	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68370200-68390200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:68373200-68379400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:68379200-68382000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr8:68379400-68380400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:68379400-68380400	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr8:68379800-68380400	Enhancers	Primary B cells from cord blood	blood
7	chr8:68379800-68382000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:68380000-68380200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:68380000-68380200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr8:68380000-68380200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:68380000-68380200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr8:68380000-68380200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr8:68380000-68380200	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:68380400-68381600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:68381800-68382000	Enhancers	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links