Variant report

Variant	nsv947507
Chromosome Location	chr1:158862676-158886260
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158722912..158725660-chr1:158876533..158879474,2	K562	blood:

Variant related genes	Relation type
ENSG00000180433	chromatin interactions

Extended variants
information (count: 161 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:161 , 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	rs147847147	chr1:158868221-158868222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183232192	chr1:158868537-158868538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529286232	chr1:158869363-158869364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11265114	chr1:158876541-158876542	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2852687	chr1:158876570-158876571	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536114230	chr1:158876605-158876606	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs115012265	chr1:158876614-158876615	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs533811483	chr1:158876618-158876619	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs34565006	chr1:158876662-158876663	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs150237330	chr1:158876666-158876667	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182461994	chr1:158876683-158876684	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs115340049	chr1:158876721-158876722	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs74507684	chr1:158876738-158876739	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs138899690	chr1:158876758-158876759	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs561742975	chr1:158876825-158876826	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs2518543	chr1:158876835-158876836	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs370975938	chr1:158876853-158876854	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2852688	chr1:158876894-158876895	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs573153634	chr1:158876916-158876917	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs2518544	chr1:158876921-158876922	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs2494075	chr1:158876991-158876992	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs34687918	chr1:158876999-158877000	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs2260107	chr1:158877000-158877001	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs562309800	chr1:158877007-158877008	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs529874682	chr1:158877032-158877033	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs548164613	chr1:158877037-158877038	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs2820195	chr1:158877039-158877040	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs527279859	chr1:158877091-158877092	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs12069086	chr1:158877100-158877101	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs552110826	chr1:158877121-158877122	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs570353557	chr1:158877122-158877123	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs186710545	chr1:158877143-158877144	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs556306493	chr1:158877149-158877150	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs569456023	chr1:158877210-158877211	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs1231164	chr1:158877228-158877229	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs112151028	chr1:158877235-158877236	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs191620454	chr1:158877270-158877271	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2518545	chr1:158877299-158877300	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs184149973	chr1:158877345-158877346	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs576843348	chr1:158877367-158877368	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs150888778	chr1:158877380-158877381	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs150836650	chr1:158877391-158877392	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs137917602	chr1:158877402-158877403	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs150778659	chr1:158877403-158877404	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs61093642	chr1:158877416-158877417	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs188901198	chr1:158877502-158877503	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs377668577	chr1:158877504-158877505	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs34253361	chr1:158877526-158877527	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs398103277	chr1:158877533-158877534	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs2793850	chr1:158877584-158877585	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Diabetes mellitus	21357537	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158868200-158869400	Enhancers	NHEK	skin
2	chr1:158868400-158868800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:158885400-158886600	Enhancers	HMEC	breast
4	chr1:158885400-158886600	Enhancers	NHEK	skin
5	chr1:158885400-158886800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:158885600-158886400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:158885600-158886600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:158885800-158886600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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