Variant report

Variant	nsv969365
Chromosome Location	chr6:27490279-27492537
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:27490949-27491093	K562	blood:	n/a	n/a
2	CEBPB	chr6:27490986-27491030	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr6:27492060-27492210	HEK293	kidney:	n/a	n/a
4	POLR2A	chr6:27491188-27491307	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27488952..27490702-chr6:27508233..27510472,2	K562	blood:
2	chr6:27488952..27490638-chr6:27507376..27509733,2	K562	blood:
3	chr6:27491895..27493602-chr6:27597595..27599888,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF391-4	chr6:27490855-27490905	NONHSAT108386
2	lnc-ZNF391-4	chr6:27491226-27492118	NONHSAT108386

No data

Variant related genes	Relation type
HNRNPA1P1	TF binding region
ENSG00000238648	chromatin interactions

Extended variants
information (count: 85 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9461388	chr6:27490429-27490430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs35100943	chr6:27490499-27490500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369002726	chr6:27490501-27490502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537636913	chr6:27490526-27490527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550836512	chr6:27490642-27490643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185698521	chr6:27490661-27490662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188940769	chr6:27490683-27490684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79395596	chr6:27490796-27490797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116350599	chr6:27490887-27490888	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs572869358	chr6:27490913-27490914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs60888769	chr6:27490922-27490923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs56099947	chr6:27490937-27490938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577793477	chr6:27490982-27490983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543592010	chr6:27490994-27490995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563283042	chr6:27491025-27491026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531569787	chr6:27491057-27491058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs36157503	chr6:27491061-27491062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71546544	chr6:27491106-27491107	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs181177789	chr6:27491107-27491108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9468150	chr6:27491108-27491109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71706046	chr6:27491130-27491131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6903928	chr6:27491131-27491132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35142924	chr6:27491134-27491135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs150435710	chr6:27491139-27491140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56847047	chr6:27491142-27491143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144818346	chr6:27491151-27491152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57075114	chr6:27491169-27491170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs112871059	chr6:27491210-27491211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532686056	chr6:27491278-27491279	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs552138214	chr6:27491283-27491284	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs547665579	chr6:27491287-27491288	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs565563757	chr6:27491291-27491292	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs6904596	chr6:27491299-27491300	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs56324337	chr6:27491354-27491355	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs536522016	chr6:27491366-27491367	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs555213717	chr6:27491367-27491368	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs138690621	chr6:27491377-27491378	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs567720648	chr6:27491381-27491382	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs536365057	chr6:27491398-27491399	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs546663947	chr6:27491413-27491414	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs537003544	chr6:27491467-27491468	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs190703894	chr6:27491491-27491492	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs182711517	chr6:27491536-27491537	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs115309746	chr6:27491562-27491563	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs577863168	chr6:27491575-27491576	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs372457763	chr6:27491585-27491586	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs370830777	chr6:27491640-27491641	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs557127577	chr6:27491731-27491732	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs9461389	chr6:27491740-27491741	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs542763936	chr6:27491742-27491743	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27487600-27490600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:27488000-27491600	Weak transcription	K562	blood
3	chr6:27491600-27493200	Enhancers	K562	blood

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