Variant report

Variant	nsv520116
Chromosome Location	chr6:153822736-153866043
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	chr6:153551820..153552804-chr6:153832962..153833839,3	MCF-7	breast:
2	chr6:153858319..153861041-chr6:153861487..153863317,2	K562	blood:
3	chr6:153803007..153804639-chr6:153864655..153867623,2	K562	blood:
4	chr6:153323561..153325698-chr6:153833615..153836225,2	K562	blood:
5	chr6:153633466..153634018-chr6:153833051..153833685,2	MCF-7	breast:
6	chr6:153858319..153861041-chr6:153861487..153863317,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL590867.1-2	chr6:153861937-153862090	XLOC_005508
2	lnc-AL590867.1-2	chr6:153860947-153861008	XLOC_005508

No data

Variant related genes	Relation type
ENSG00000112031	chromatin interactions
ENSG00000213121	chromatin interactions

Extended variants
information (count: 331 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:331 , 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	rs541877688	chr6:153832987-153832988	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs553988669	chr6:153833005-153833006	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs572375469	chr6:153833021-153833022	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs200635911	chr6:153833078-153833079	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs386707268	chr6:153833079-153833080	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs79470249	chr6:153833081-153833082	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs374047793	chr6:153833082-153833083	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs374795459	chr6:153833122-153833123	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs181348422	chr6:153833131-153833132	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs544026626	chr6:153833143-153833144	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562217891	chr6:153833156-153833157	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs551384284	chr6:153833157-153833158	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs548235129	chr6:153833191-153833192	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs185182240	chr6:153833195-153833196	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs555212803	chr6:153833206-153833207	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs527259980	chr6:153833212-153833213	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551921951	chr6:153833219-153833220	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570407344	chr6:153833255-153833256	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs6926228	chr6:153833256-153833257	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs150834882	chr6:153833353-153833354	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs1626033	chr6:153833398-153833399	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549671383	chr6:153833407-153833408	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189788473	chr6:153833409-153833410	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs114495636	chr6:153833410-153833411	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554217073	chr6:153833443-153833444	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs143642839	chr6:153833479-153833480	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs270272	chr6:153833489-153833490	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs539811141	chr6:153833514-153833515	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs1459254	chr6:153833553-153833554	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs270271	chr6:153833568-153833569	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs368675719	chr6:153833641-153833642	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs76151284	chr6:153833652-153833653	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs544088763	chr6:153833653-153833654	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs182395288	chr6:153833667-153833668	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs377291844	chr6:153833685-153833686	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs372457434	chr6:153833698-153833699	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs139233205	chr6:153833704-153833705	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs573601460	chr6:153833777-153833778	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs560179958	chr6:153833789-153833790	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs375632185	chr6:153833818-153833819	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs552149839	chr6:153833862-153833863	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs563695411	chr6:153833871-153833872	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs149589920	chr6:153833891-153833892	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549634628	chr6:153833952-153833953	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs568039504	chr6:153833963-153833964	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs573231424	chr6:153833985-153833986	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs186424868	chr6:153834056-153834057	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs535531852	chr6:153834094-153834095	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs535622326	chr6:153834213-153834214	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs547315294	chr6:153834225-153834226	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:153833000-153833400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:153833000-153833400	Enhancers	Adipose Nuclei	Adipose
3	chr6:153833000-153833600	Enhancers	Dnd41	blood
4	chr6:153842200-153842600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:153858200-153858400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:153858600-153859400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:153859400-153859600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:153859400-153861800	Enhancers	Dnd41	blood
9	chr6:153859600-153860000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:153859600-153860200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:153860400-153860600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:153860600-153861400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:153860600-153861600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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