Variant report

Variant	nsv970049
Chromosome Location	chr6:86395496-86410652
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	chr6:86396233..86399301-chr6:86399651..86402841,3	MCF-7	breast:
2	chr6:86397570..86400477-chr6:86416259..86418684,2	K562	blood:
3	chr6:86396233..86399301-chr6:86399651..86402841,3	MCF-7	breast:
4	chr6:86352687..86354772-chr6:86394800..86396711,3	MCF-7	breast:
5	chr6:86398204..86400285-chr6:86400483..86402963,2	K562	blood:
6	chr6:86385642..86390131-chr6:86401946..86405248,5	K562	blood:
7	chr6:86387116..86389313-chr6:86395137..86397697,2	MCF-7	breast:
8	chr6:86392546..86395306-chr6:86396739..86401474,7	K562	blood:
9	chr6:86398204..86400285-chr6:86400483..86402963,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000203875	chromatin interactions
ENSG00000135316	chromatin interactions

Extended variants
information (count: 227 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530911114	chr6:86395540-86395541	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs141418133	chr6:86395544-86395545	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs150817992	chr6:86395557-86395558	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs567600129	chr6:86395568-86395569	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs547078512	chr6:86395570-86395571	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs565694109	chr6:86395683-86395684	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs192361776	chr6:86395699-86395700	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs185727414	chr6:86395700-86395701	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs554435623	chr6:86395706-86395707	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs569652344	chr6:86395707-86395708	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs536629971	chr6:86395713-86395714	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs115113921	chr6:86395731-86395732	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs116721099	chr6:86395745-86395746	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs372177701	chr6:86395780-86395781	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs540729445	chr6:86395919-86395920	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs536727486	chr6:86395928-86395929	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs139634524	chr6:86395956-86395957	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs149755054	chr6:86395986-86395987	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs563949610	chr6:86396047-86396048	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs531199962	chr6:86396099-86396100	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs78823741	chr6:86396116-86396117	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs546533823	chr6:86396129-86396130	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs554055651	chr6:86396229-86396230	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs564430024	chr6:86396247-86396248	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs528486914	chr6:86396299-86396300	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs553084238	chr6:86396301-86396302	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs568582581	chr6:86396302-86396303	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs529835918	chr6:86396336-86396337	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs113880975	chr6:86396348-86396349	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs566638313	chr6:86396349-86396350	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs188991570	chr6:86396371-86396372	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs367940372	chr6:86396429-86396430	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs372242865	chr6:86396467-86396468	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs558439461	chr6:86396521-86396522	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs570349481	chr6:86396552-86396553	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs139353938	chr6:86396582-86396583	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs181085137	chr6:86396583-86396584	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs117455343	chr6:86396593-86396594	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs541966435	chr6:86396690-86396691	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs557552757	chr6:86396696-86396697	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs186323373	chr6:86396728-86396729	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs575915872	chr6:86396731-86396732	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs546470429	chr6:86396753-86396754	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564848580	chr6:86396763-86396764	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs369586826	chr6:86396814-86396815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs117893175	chr6:86396827-86396828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs79669975	chr6:86396879-86396880	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs4707217	chr6:86396932-86396933	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs372510507	chr6:86396941-86396942	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs529362034	chr6:86396944-86396945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86394600-86395800	Enhancers	Psoas Muscle	Psoas
2	chr6:86395200-86395800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:86395200-86396000	Flanking Active TSS	GM12878-XiMat	blood
4	chr6:86395400-86395800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr6:86395400-86395800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr6:86395800-86399200	Weak transcription	Psoas Muscle	Psoas
7	chr6:86396000-86396200	Enhancers	GM12878-XiMat	blood
8	chr6:86410600-86414800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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