Variant report

Variant	nsv965633
Chromosome Location	chr6:28468341-28472194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28463310..28466016-chr6:28470541..28473253,3	K562	blood:
2	chr6:28438384..28441784-chr6:28470491..28474037,3	K562	blood:
3	chr6:28438384..28440248-chr6:28470491..28472437,2	K562	blood:
4	chr6:28467073..28469252-chr6:28582914..28584579,2	K562	blood:
5	chr6:28470071..28472229-chr6:28510465..28513041,2	K562	blood:
6	chr6:28459830..28463091-chr6:28469515..28471926,3	K562	blood:

Variant related genes	Relation type
ENSG00000232040	chromatin interactions

Extended variants
information (count: 167 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536032629	chr6:28468370-28468371	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs376268278	chr6:28468384-28468385	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560339309	chr6:28468391-28468392	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs6937042	chr6:28468429-28468430	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs569594363	chr6:28468498-28468499	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs552260497	chr6:28468522-28468523	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs75434954	chr6:28468570-28468571	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs398048434	chr6:28468575-28468576	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs76126802	chr6:28468589-28468590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34647310	chr6:28468590-28468591	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs77379640	chr6:28468591-28468592	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs200000079	chr6:28468608-28468609	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537885114	chr6:28468630-28468631	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537613715	chr6:28468635-28468636	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs556250262	chr6:28468637-28468638	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs548491168	chr6:28468700-28468701	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs181085543	chr6:28468734-28468735	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs536285502	chr6:28468735-28468736	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs552945428	chr6:28468792-28468793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs112625902	chr6:28468802-28468803	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547487632	chr6:28468808-28468809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs538764684	chr6:28468815-28468816	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs184248004	chr6:28468821-28468822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376347393	chr6:28469027-28469028	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs188139002	chr6:28469037-28469038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs555287276	chr6:28469097-28469098	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs550460502	chr6:28469130-28469131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540883834	chr6:28469138-28469139	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs369806403	chr6:28469141-28469142	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs532108545	chr6:28469207-28469208	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs545933825	chr6:28469229-28469230	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201224156	chr6:28469276-28469277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562418493	chr6:28469322-28469323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181024229	chr6:28469381-28469382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554229758	chr6:28469385-28469386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79258552	chr6:28469419-28469420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7759252	chr6:28469422-28469423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs568388001	chr6:28469442-28469443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7739305	chr6:28469458-28469459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs35999889	chr6:28469479-28469480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs566551102	chr6:28469505-28469506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561601612	chr6:28469527-28469528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538626317	chr6:28469593-28469594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56918790	chr6:28469601-28469602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs569244989	chr6:28469623-28469624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61192640	chr6:28469643-28469644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs58705751	chr6:28469671-28469672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575044433	chr6:28469701-28469702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2531823	chr6:28469736-28469737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11846853	chr6:28469744-28469745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
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
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
Bipolar disorder	19114987	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28466400-28473000	Weak transcription	K562	blood
2	chr6:28466600-28470800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:28470800-28471200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:28470800-28471200	Bivalent Enhancer	HepG2	liver
5	chr6:28471200-28474400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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