Variant report

Variant	nsv946400
Chromosome Location	chr1:153488627-153492093
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153485492..153490407-chr1:153581456..153585636,6	MCF-7	breast:
2	chr1:153490604..153493387-chr1:153620859..153622534,2	MCF-7	breast:
3	chr1:153481535..153486377-chr1:153486910..153489741,6	MCF-7	breast:
4	chr1:153482414..153491614-chr1:153504332..153509728,11	MCF-7	breast:
5	chr1:153490190..153492255-chr1:153599612..153601121,2	MCF-7	breast:
6	chr1:153482943..153489100-chr1:153536653..153546582,24	MCF-7	breast:
7	chr1:153490524..153493456-chr1:153634525..153637062,2	MCF-7	breast:
8	chr1:153488592..153490100-chr1:153698807..153700904,2	MCF-7	breast:
9	chr1:153486911..153489748-chr1:153497891..153499485,2	MCF-7	breast:
10	chr1:153488431..153490031-chr1:153491470..153493737,3	MCF-7	breast:
11	chr1:153488431..153490031-chr1:153491470..153493737,3	MCF-7	breast:
12	chr1:153485568..153489846-chr1:153597780..153600586,4	MCF-7	breast:
13	chr1:153488074..153490383-chr1:153582465..153584577,2	MCF-7	breast:
14	chr1:153492067..153494690-chr1:153506772..153509509,2	MCF-7	breast:
15	chr1:153488382..153488936-chr20:48729328..48730006,2	Hela-S3	cervix:
16	chr1:153487137..153489492-chr1:153599927..153602153,2	K562	blood:
17	chr1:153489710..153492199-chr1:153643091..153644998,2	MCF-7	breast:
18	chr1:153333970..153336324-chr1:153487147..153490000,2	MCF-7	breast:
19	chr1:153491196..153497339-chr1:153538209..153542553,6	MCF-7	breast:
20	chr1:153489101..153490682-chr1:153503610..153505565,2	MCF-7	breast:
21	chr1:153486453..153490659-chr1:153516922..153519172,4	MCF-7	breast:
22	chr1:153487607..153489712-chr1:153493961..153496551,2	MCF-7	breast:
23	chr1:153488456..153491152-chr1:153500196..153502080,2	MCF-7	breast:
24	chr1:153485507..153488629-chr1:153609418..153613085,3	MCF-7	breast:
25	chr1:153480132..153490926-chr1:153537975..153544732,26	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197956	chromatin interactions
ENSG00000244687	chromatin interactions
ENSG00000143624	chromatin interactions
ENSG00000189171	chromatin interactions
ENSG00000196754	chromatin interactions
ENSG00000188643	chromatin interactions
ENSG00000160678	chromatin interactions
ENSG00000196154	chromatin interactions
ENSG00000199565	chromatin interactions
ENSG00000238279	chromatin interactions
ENSG00000143621	chromatin interactions
ENSG00000160679	chromatin interactions

Extended variants
information (count: 128 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565264475	chr1:153488656-153488657	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs572044744	chr1:153488667-153488668	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs1887039	chr1:153488723-153488724	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs561840104	chr1:153488778-153488779	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs529485799	chr1:153488814-153488815	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs573308337	chr1:153488872-153488873	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs569257106	chr1:153488896-153488897	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs550746878	chr1:153488924-153488925	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs548368493	chr1:153488932-153488933	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs149304171	chr1:153488948-153488949	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs534202563	chr1:153488974-153488975	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs569236526	chr1:153489000-153489001	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs189134482	chr1:153489052-153489053	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs78964593	chr1:153489078-153489079	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs556975764	chr1:153489101-153489102	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs575238434	chr1:153489138-153489139	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs373912927	chr1:153489147-153489148	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs542792298	chr1:153489150-153489151	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs73022488	chr1:153489157-153489158	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs192876536	chr1:153489189-153489190	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs573108916	chr1:153489253-153489254	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs374280356	chr1:153489269-153489270	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs185456038	chr1:153489328-153489329	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs188545274	chr1:153489331-153489332	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs144583812	chr1:153489435-153489436	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs112301873	chr1:153489485-153489486	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs562944484	chr1:153489493-153489494	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs181045180	chr1:153489496-153489497	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs548307502	chr1:153489539-153489540	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs545386607	chr1:153489582-153489583	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs527900816	chr1:153489590-153489591	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs184023269	chr1:153489595-153489596	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs571067148	chr1:153489625-153489626	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs371747851	chr1:153489645-153489646	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs538570397	chr1:153489647-153489648	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs188021002	chr1:153489662-153489663	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs142707367	chr1:153489668-153489669	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs536338125	chr1:153489674-153489675	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs565197771	chr1:153489706-153489707	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs61432922	chr1:153489711-153489712	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs76669800	chr1:153489714-153489715	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs71584116	chr1:153489718-153489719	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs201647888	chr1:153489734-153489735	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs112909556	chr1:153489738-153489739	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs6677414	chr1:153489745-153489746	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs558778136	chr1:153489759-153489760	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs577056010	chr1:153489792-153489793	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs544521364	chr1:153489852-153489853	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs562721755	chr1:153489895-153489896	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs73022493	chr1:153489968-153489969	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:115)

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
Ewing''s sarcoma	21437220	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
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	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
Esophageal squamous carcinoma	18350619	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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	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
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153481000-153490600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:153481200-153503600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:153483600-153488800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:153483600-153493200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:153483800-153497800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:153485600-153489000	Enhancers	Primary B cells from cord blood	blood
7	chr1:153486400-153489400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr1:153486800-153489600	Enhancers	Placenta	Placenta
9	chr1:153487000-153488800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr1:153487200-153488800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:153487200-153489000	Enhancers	Esophagus	oesophagus
12	chr1:153487200-153489000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr1:153487600-153488800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:153487600-153489000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:153487600-153489000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr1:153487600-153489400	Enhancers	Stomach Mucosa	stomach
17	chr1:153487800-153488800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:153487800-153488800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:153487800-153488800	Enhancers	A549	lung
20	chr1:153487800-153489000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:153487800-153489000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr1:153487800-153489000	Enhancers	Colonic Mucosa	Colon
23	chr1:153487800-153489400	Enhancers	Fetal Intestine Large	intestine
24	chr1:153488000-153488800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:153488000-153488800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:153488000-153488800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:153488000-153488800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:153488000-153488800	Enhancers	Right Atrium	heart
29	chr1:153488000-153488800	Enhancers	Right Ventricle	heart
30	chr1:153488000-153488800	Enhancers	Spleen	Spleen
31	chr1:153488000-153488800	Flanking Active TSS	NHEK	skin
32	chr1:153488000-153489000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:153488000-153489000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:153488000-153489000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:153488000-153489000	Enhancers	Fetal Muscle Trunk	muscle
36	chr1:153488000-153489000	Enhancers	Gastric	stomach
37	chr1:153488000-153489000	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr1:153488000-153489200	Enhancers	Fetal Intestine Small	intestine
39	chr1:153488000-153489200	Flanking Active TSS	Hela-S3	cervix
40	chr1:153488200-153488800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:153488200-153488800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:153488200-153488800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr1:153488200-153489000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:153488200-153489000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr1:153488200-153490400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:153488400-153489200	Weak transcription	Small Intestine	intestine
47	chr1:153488400-153489400	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr1:153488400-153489400	Enhancers	HMEC	breast
49	chr1:153488400-153490400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:153488400-153492400	Enhancers	Primary monocytes fromperipheralblood	blood

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