Variant report

Variant	nsv548090
Chromosome Location	chr1:165602524-165604991
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165600483..165602839-chr1:165648702..165651325,2	K562	blood:
2	chr1:165601421..165603432-chr1:165737509..165739117,2	K562	blood:
3	chr1:165598732..165600312-chr1:165601060..165603402,2	MCF-7	breast:
4	chr1:165600033..165602839-chr1:165649825..165652028,2	K562	blood:

Variant related genes	Relation type
ENSG00000143149	chromatin interactions
ENSG00000224358	chromatin interactions
ENSG00000143198	chromatin interactions
ENSG00000143183	chromatin interactions

Extended variants
information (count: 79 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4147598	chr1:165602524-165602525	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531954255	chr1:165602662-165602663	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs575241037	chr1:165602690-165602691	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs190412633	chr1:165602719-165602720	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs554685333	chr1:165602736-165602737	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs9333383	chr1:165602775-165602776	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs574427429	chr1:165602793-165602794	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs147490450	chr1:165602844-165602845	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs9333384	chr1:165602852-165602853	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs34899242	chr1:165602889-165602890	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs140002150	chr1:165602909-165602910	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs545672646	chr1:165602911-165602912	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs565438835	chr1:165602948-165602949	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs12043601	chr1:165602965-165602966	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs528441564	chr1:165603003-165603004	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs548873146	chr1:165603004-165603005	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs530968069	chr1:165603006-165603007	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs370806247	chr1:165603180-165603181	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs182977637	chr1:165603237-165603238	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs7523515	chr1:165603250-165603251	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs530102186	chr1:165603259-165603260	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs56190944	chr1:165603262-165603263	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs200015184	chr1:165603264-165603265	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs9333385	chr1:165603289-165603290	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs538443027	chr1:165603361-165603362	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs552094209	chr1:165603477-165603478	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs187869382	chr1:165603479-165603480	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs113928266	chr1:165603498-165603499	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs537874680	chr1:165603540-165603541	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs9333386	chr1:165603577-165603578	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs9333387	chr1:165603672-165603673	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs80160870	chr1:165603757-165603758	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs573526095	chr1:165603783-165603784	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs79480594	chr1:165603827-165603828	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs565598274	chr1:165603850-165603851	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs9333388	chr1:165603866-165603867	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs201185718	chr1:165603882-165603883	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs575818034	chr1:165603886-165603887	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs9333389	chr1:165603887-165603888	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs1538114	chr1:165603894-165603895	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs9333390	chr1:165603915-165603916	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs546736003	chr1:165603956-165603957	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs569026103	chr1:165603958-165603959	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs560203111	chr1:165603962-165603963	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs9333391	chr1:165603969-165603970	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs9333392	chr1:165603973-165603974	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs370480084	chr1:165603978-165603979	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs372510535	chr1:165603991-165603992	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs369859490	chr1:165604001-165604002	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367744895	chr1:165604035-165604036	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	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
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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	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
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD

Chromatin state (count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165599200-165603400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:165599400-165602600	Active TSS	Right Ventricle	heart
3	chr1:165599400-165602800	Active TSS	Left Ventricle	heart
4	chr1:165599400-165602800	Active TSS	Psoas Muscle	Psoas
5	chr1:165599400-165603000	Active TSS	Aorta	Aorta
6	chr1:165599400-165603000	Active TSS	Brain Cingulate Gyrus	brain
7	chr1:165599400-165603200	Active TSS	Right Atrium	heart
8	chr1:165601200-165602600	Flanking Active TSS	Fetal Stomach	stomach
9	chr1:165601200-165602600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr1:165601200-165602600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr1:165601400-165602600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr1:165601400-165602600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:165601400-165602600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:165601400-165602600	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr1:165601400-165602600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:165601400-165602600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr1:165601400-165603000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr1:165601400-165603000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr1:165601400-165603200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:165601400-165603200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:165601400-165603200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr1:165601400-165603800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:165601400-165604400	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr1:165601600-165602600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr1:165601600-165602600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr1:165601600-165602600	Flanking Active TSS	A549	lung
27	chr1:165601600-165602600	Enhancers	HepG2	liver
28	chr1:165601600-165602800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:165601600-165602800	Enhancers	Liver	Liver
30	chr1:165601600-165603400	Weak transcription	Gastric	stomach
31	chr1:165601600-165603600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:165601600-165603600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr1:165601600-165603600	Enhancers	Pancreas	Pancrea
34	chr1:165601600-165604400	Weak transcription	Primary T cells from cord blood	blood
35	chr1:165601600-165605800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:165601600-165608400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:165601600-165615200	Weak transcription	Spleen	Spleen
38	chr1:165601800-165602600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:165601800-165602600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:165601800-165602600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:165601800-165602600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:165601800-165602600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:165601800-165602600	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr1:165601800-165602800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:165601800-165602800	Weak transcription	Lung	lung
46	chr1:165601800-165603000	Enhancers	HSMMtube	muscle
47	chr1:165601800-165603200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:165601800-165603200	Weak transcription	Fetal Kidney	kidney
49	chr1:165601800-165603400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:165601800-165603600	Weak transcription	H1 Cell Line	embryonic stem cell

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