Variant report

Variant	nsv1001493
Chromosome Location	chr1:185408956-185436842
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:185426223..185427976-chr1:185437798..185439876,2	K562	blood:
2	chr1:185418261..185421294-chr1:185421680..185424780,3	MCF-7	breast:
3	chr1:185431452..185433745-chr1:185437042..185439174,3	K562	blood:
4	chr1:185411516..185413347-chr1:185414990..185417617,2	MCF-7	breast:
5	chr1:185411516..185413347-chr1:185414990..185417617,2	MCF-7	breast:
6	chr1:185415191..185417004-chr1:185418881..185420902,2	K562	blood:
7	chr1:185402576..185405306-chr1:185419517..185421422,2	K562	blood:
8	chr1:185415191..185417004-chr1:185418881..185420902,2	K562	blood:
9	chr1:185432228..185434562-chr1:185436801..185439174,2	K562	blood:
10	chr1:185414875..185416691-chr1:185417385..185420381,2	K562	blood:
11	chr1:185434161..185436833-chr19:5926827..5928359,2	MCF-7	breast:
12	chr1:185414875..185416691-chr1:185417385..185420381,2	K562	blood:
13	chr1:185432228..185434562-chr1:185436801..185439174,2	K562	blood:
14	chr1:185373749..185376040-chr1:185407434..185409670,2	K562	blood:
15	chr1:185418261..185421294-chr1:185421680..185424780,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000252407	chromatin interactions
ENSG00000270920	chromatin interactions

Extended variants
information (count: 1116 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1116 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141137412	chr1:185408979-185408980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191709890	chr1:185409038-185409039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150302277	chr1:185409043-185409044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs137963363	chr1:185409059-185409060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10732976	chr1:185409061-185409062	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs116310433	chr1:185409093-185409094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142463301	chr1:185409119-185409120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565813546	chr1:185409157-185409158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533171563	chr1:185409174-185409175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72724196	chr1:185409193-185409194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570018355	chr1:185409211-185409212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537308709	chr1:185409215-185409216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111952347	chr1:185409231-185409232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567897836	chr1:185409268-185409269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140126067	chr1:185409273-185409274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577521447	chr1:185409285-185409286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559950720	chr1:185409319-185409320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72724197	chr1:185409341-185409342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369906394	chr1:185409344-185409345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142181382	chr1:185409389-185409390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200332859	chr1:185409414-185409415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538663246	chr1:185409428-185409429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556951296	chr1:185409542-185409543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145636257	chr1:185409623-185409624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575620638	chr1:185409628-185409629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574265380	chr1:185409650-185409651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542950568	chr1:185409665-185409666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75615690	chr1:185409708-185409709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560947211	chr1:185409725-185409726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540038253	chr1:185409726-185409727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs397966533	chr1:185409734-185409735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559443027	chr1:185409749-185409750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11590359	chr1:185409761-185409762	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs550095101	chr1:185409768-185409769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185029323	chr1:185409810-185409811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189139029	chr1:185409830-185409831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564816859	chr1:185409833-185409834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376845846	chr1:185409835-185409836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181081375	chr1:185409861-185409862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144829142	chr1:185409862-185409863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148591587	chr1:185409865-185409866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571370954	chr1:185409869-185409870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141431940	chr1:185409939-185409940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557085354	chr1:185409956-185409957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35392964	chr1:185410032-185410033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74693863	chr1:185410060-185410061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535850450	chr1:185410065-185410066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs151038914	chr1:185410072-185410073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573026494	chr1:185410119-185410120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376016513	chr1:185410152-185410153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	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
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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185401400-185409600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr1:185402400-185410800	Weak transcription	Left Ventricle	heart
3	chr1:185406400-185409000	Weak transcription	Fetal Heart	heart
4	chr1:185406800-185409600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:185407000-185412000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:185407200-185409200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:185407200-185410600	Weak transcription	HUVEC	blood vessel
8	chr1:185407400-185412200	Weak transcription	Right Atrium	heart
9	chr1:185407600-185409400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:185407600-185409600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:185407600-185411400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:185407800-185409000	Enhancers	Primary B cells from cord blood	blood
13	chr1:185407800-185409600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr1:185407800-185410200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr1:185407800-185410400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:185407800-185410600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:185407800-185411000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:185407800-185411400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:185407800-185411600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:185407800-185411600	Enhancers	Hela-S3	cervix
21	chr1:185407800-185411800	Enhancers	HSMMtube	muscle
22	chr1:185408000-185409800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr1:185408000-185410800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:185408000-185411200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:185408200-185409000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:185408200-185409000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:185408200-185409200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr1:185408200-185409800	Enhancers	Primary B cells from peripheral blood	blood
29	chr1:185408200-185409800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr1:185408200-185411200	Enhancers	NHDF-Ad	bronchial
31	chr1:185408200-185411600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:185408200-185411600	Enhancers	Fetal Intestine Large	intestine
33	chr1:185408200-185411600	Enhancers	Fetal Intestine Small	intestine
34	chr1:185408200-185411600	Enhancers	HMEC	breast
35	chr1:185408200-185411600	Enhancers	NHEK	skin
36	chr1:185408200-185411800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:185408200-185411800	Enhancers	Placenta	Placenta
38	chr1:185408200-185412000	Enhancers	Primary T cells fromperipheralblood	blood
39	chr1:185408400-185409200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr1:185408400-185409600	Enhancers	GM12878-XiMat	blood
41	chr1:185408400-185409600	Enhancers	NH-A	brain
42	chr1:185408400-185409800	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr1:185408400-185410400	Enhancers	A549	lung
44	chr1:185408600-185409800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr1:185408600-185409800	Enhancers	Placenta Amnion	Placenta Amnion
46	chr1:185408600-185411600	Enhancers	Osteobl	bone
47	chr1:185408800-185409000	Enhancers	HSMM	muscle
48	chr1:185408800-185409200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:185408800-185409400	Enhancers	Small Intestine	intestine
50	chr1:185408800-185409600	Enhancers	Thymus	Thymus

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