Variant report

Variant	nsv511864
Chromosome Location	chr6:29950066-29953916
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:29950039..29951645-chr6:29953140..29954748,2	K562	blood:
2	chr6:29949567..29951883-chr6:29956360..29958897,2	K562	blood:
3	chr6:29949567..29952384-chr6:29955471..29958344,3	K562	blood:
4	chr6:29943470..29945184-chr6:29952031..29954167,2	K562	blood:
5	chr6:29943871..29947343-chr6:29947953..29952410,7	K562	blood:
6	chr6:29944005..29947343-chr6:29947938..29951140,5	K562	blood:
7	chr6:29952453..29954719-chr6:29960794..29963085,2	K562	blood:
8	chr6:29943564..29948104-chr6:29950580..29953407,4	MCF-7	breast:
9	chr6:29950039..29951645-chr6:29953140..29954748,2	K562	blood:
10	chr6:29937399..29939324-chr6:29949163..29951713,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000238024	chromatin interactions
ENSG00000204625	chromatin interactions

Extended variants
information (count: 218 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:218 , 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	rs368790183	chr6:29950071-29950072	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs544422575	chr6:29950085-29950086	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs371291252	chr6:29950092-29950093	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs374760672	chr6:29950111-29950112	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs367872192	chr6:29950115-29950116	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs371564030	chr6:29950133-29950134	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs379221	chr6:29950140-29950141	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs116417742	chr6:29950151-29950152	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373204479	chr6:29950163-29950164	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs183495952	chr6:29950165-29950166	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs116265131	chr6:29950206-29950207	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs401618	chr6:29950210-29950211	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs74295248	chr6:29950226-29950227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs562001942	chr6:29950258-29950259	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374867690	chr6:29950261-29950262	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs562261597	chr6:29950263-29950264	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs9260924	chr6:29950289-29950290	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs150194016	chr6:29950299-29950300	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138764259	chr6:29950309-29950310	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs3734830	chr6:29950321-29950322	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs546955599	chr6:29950343-29950344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs377435829	chr6:29950351-29950352	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs539057912	chr6:29950377-29950378	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs3734831	chr6:29950417-29950418	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs533430796	chr6:29950446-29950447	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs9260925	chr6:29950457-29950458	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs554797786	chr6:29950464-29950465	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs3734832	chr6:29950492-29950493	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs9260927	chr6:29950502-29950503	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs527919576	chr6:29950507-29950508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs553799814	chr6:29950547-29950548	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371183164	chr6:29950551-29950552	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs3734833	chr6:29950577-29950578	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs3734834	chr6:29950581-29950582	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs373649693	chr6:29950623-29950624	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs375083087	chr6:29950643-29950644	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs191738275	chr6:29950650-29950651	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs367744688	chr6:29950655-29950656	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs371875426	chr6:29950664-29950665	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs9260928	chr6:29950668-29950669	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs201875367	chr6:29950695-29950696	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs147317810	chr6:29950696-29950697	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs200296886	chr6:29950713-29950714	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs552645899	chr6:29950720-29950721	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs183485107	chr6:29950759-29950760	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368199304	chr6:29950760-29950761	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs372313377	chr6:29950762-29950763	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs141022503	chr6:29950763-29950764	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs141606359	chr6:29950800-29950801	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs377088736	chr6:29950818-29950819	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Ovarian cancer	21781307	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
Cancer	16790693	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
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Pancreatic cancer	17952125	CNVD
Rett syndrome	21593744	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29945400-29950200	Weak transcription	Right Atrium	heart
2	chr6:29945600-29966400	Weak transcription	Pancreas	Pancrea
3	chr6:29949400-29953400	Weak transcription	HepG2	liver
4	chr6:29949800-29950200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr6:29950000-29950200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:29950200-29953600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:29950400-29951200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:29950600-29951200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:29953400-29953800	Enhancers	HepG2	liver
10	chr6:29953600-29954400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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