Variant report

Variant	nsv522045
Chromosome Location	chr1:180152242-180159654
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:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180151242..180153585-chr1:180154166..180155979,2	MCF-7	breast:
2	chr1:180157104..180157974-chr1:180212363..180213260,6	MCF-7	breast:
3	chr1:180157727..180159234-chr1:180178003..180180666,2	K562	blood:
4	chr1:180157990..180162959-chr1:180199986..180202950,5	MCF-7	breast:
5	chr1:180158876..180161561-chr1:180163823..180167690,5	MCF-7	breast:
6	chr1:180143979..180145920-chr1:180152234..180155000,2	MCF-7	breast:
7	chr1:180041516..180043447-chr1:180150974..180152935,2	MCF-7	breast:
8	chr1:180157048..180157967-chr1:180446543..180447542,2	K562	blood:
9	chr1:180157909..180159726-chr1:180159740..180161747,2	K562	blood:
10	chr1:180152753..180155932-chr1:180156941..180161376,5	K562	blood:
11	chr1:180151479..180154072-chr1:180156282..180158155,2	MCF-7	breast:
12	chr1:180151479..180154072-chr1:180156282..180158155,2	MCF-7	breast:
13	chr1:180155464..180157247-chr1:180221856..180223365,2	K562	blood:
14	chr1:180157807..180161991-chr1:180470088..180472888,3	MCF-7	breast:
15	chr1:180153240..180155932-chr1:180156941..180159298,3	K562	blood:
16	chr1:180155978..180158084-chr1:180185932..180188850,2	K562	blood:
17	chr1:180157764..180160729-chr1:180196773..180199044,2	MCF-7	breast:
18	chr1:180156865..180157706-chr1:180384959..180385623,2	K562	blood:
19	chr1:180157472..180157976-chr1:180220457..180221410,2	K562	blood:
20	chr1:180148498..180150410-chr1:180153485..180156039,2	MCF-7	breast:
21	chr1:180147709..180148394-chr1:180157374..180157997,3	K562	blood:
22	chr1:180157037..180158401-chr1:180451224..180451939,3	K562	blood:
23	chr1:180157064..180157810-chr1:180212292..180213377,3	MCF-7	breast:
24	chr1:180155609..180157306-chr1:180443324..180446117,2	MCF-7	breast:
25	chr1:180151242..180153585-chr1:180154166..180155979,2	MCF-7	breast:
26	chr1:180152753..180155932-chr1:180156941..180161376,5	K562	blood:
27	chr1:180155164..180157473-chr1:180197827..180200176,2	MCF-7	breast:
28	chr1:180155367..180159115-chr1:180198321..180200996,3	MCF-7	breast:
29	chr1:180153240..180155932-chr1:180156941..180159298,3	K562	blood:
30	chr1:180156740..180157798-chr1:180384923..180385820,3	MCF-7	breast:
31	chr1:180157396..180157988-chr1:180200314..180201082,2	MCF-7	breast:
32	chr1:180150202..180151825-chr1:180157652..180159202,2	MCF-7	breast:
33	chr1:180135428..180138250-chr1:180150894..180153157,2	MCF-7	breast:
34	chr1:180123119..180125237-chr1:180150357..180153270,2	K562	blood:
35	chr1:180157564..180158553-chr1:180385566..180386276,2	MCF-7	breast:
36	chr1:180152760..180154935-chr1:180161699..180163252,2	K562	blood:
37	chr1:180157851..180159409-chr1:180159735..180161240,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135847	chromatin interactions
ENSG00000121454	chromatin interactions
ENSG00000116260	chromatin interactions
ENSG00000135837	chromatin interactions

Extended variants
information (count: 344 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:344 , 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	rs3767181	chr1:180152242-180152243	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs3767180	chr1:180152256-180152257	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs3767179	chr1:180152260-180152261	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs13375388	chr1:180152303-180152304	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs553624281	chr1:180152304-180152305	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs532142822	chr1:180152312-180152313	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs573353499	chr1:180152315-180152316	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs188307955	chr1:180152319-180152320	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs192255470	chr1:180152335-180152336	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs575594670	chr1:180152384-180152385	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs547131269	chr1:180152469-180152470	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs74661504	chr1:180152494-180152495	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs199930686	chr1:180152502-180152503	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs5779047	chr1:180152509-180152510	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs397740358	chr1:180152510-180152511	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs397765536	chr1:180152511-180152512	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs78650493	chr1:180152512-180152513	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs16855405	chr1:180152520-180152521	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs577532268	chr1:180152528-180152529	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs540010969	chr1:180152577-180152578	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs183223330	chr1:180152591-180152592	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs528942311	chr1:180152607-180152608	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs548013963	chr1:180152628-180152629	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs187547299	chr1:180152642-180152643	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs562503510	chr1:180152676-180152677	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs13375480	chr1:180152737-180152738	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs569592131	chr1:180152778-180152779	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs536918232	chr1:180152782-180152783	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs60738487	chr1:180152787-180152788	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs61809065	chr1:180152791-180152792	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs11802007	chr1:180152795-180152796	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs141145782	chr1:180152851-180152852	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs547199787	chr1:180152866-180152867	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs567109499	chr1:180152872-180152873	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs3795506	chr1:180152878-180152879	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs374110664	chr1:180152879-180152880	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs535018432	chr1:180152890-180152891	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs143583484	chr1:180152895-180152896	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs553185011	chr1:180152902-180152903	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs113478936	chr1:180152957-180152958	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs192565250	chr1:180152967-180152968	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs112603446	chr1:180153013-180153014	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs373914936	chr1:180153014-180153015	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs4360492	chr1:180153065-180153066	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs377358722	chr1:180153070-180153071	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs140969999	chr1:180153134-180153135	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs2278943	chr1:180153178-180153179	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs146785605	chr1:180153184-180153185	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs578258768	chr1:180153194-180153195	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs369019184	chr1:180153195-180153196	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	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
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
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
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
Trisomy 5 syndrome	21098271	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD

Chromatin state (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180125600-180159200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:180126200-180152400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr1:180126400-180153800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:180133400-180153200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:180133800-180152800	Weak transcription	Primary B cells from cord blood	blood
6	chr1:180134000-180167600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:180134400-180168800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr1:180135000-180169000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:180136200-180167200	Weak transcription	Dnd41	blood
10	chr1:180137200-180153200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:180137200-180155400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:180137400-180157800	Weak transcription	HSMMtube	muscle
13	chr1:180137600-180153000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:180137800-180153000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:180137800-180159200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:180138000-180153000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:180138200-180153000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr1:180138200-180154200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:180138200-180158000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:180138200-180172800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:180138800-180157600	Weak transcription	K562	blood
22	chr1:180140200-180167200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:180142600-180157800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:180143200-180153000	Weak transcription	Brain Angular Gyrus	brain
25	chr1:180143400-180171600	Strong transcription	Fetal Stomach	stomach
26	chr1:180143800-180156000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:180143800-180169000	Weak transcription	Small Intestine	intestine
28	chr1:180143800-180170000	Strong transcription	Osteobl	bone
29	chr1:180144000-180153200	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:180144000-180166800	Weak transcription	Psoas Muscle	Psoas
31	chr1:180144200-180166400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:180144600-180168400	Strong transcription	Ovary	ovary
33	chr1:180144800-180161600	Strong transcription	Placenta	Placenta
34	chr1:180145200-180155400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:180145200-180159600	Weak transcription	Liver	Liver
36	chr1:180145200-180160800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:180145400-180157000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:180145600-180152600	Weak transcription	Fetal Heart	heart
39	chr1:180146000-180153000	Weak transcription	Brain Substantia Nigra	brain
40	chr1:180146400-180164000	Weak transcription	Right Atrium	heart
41	chr1:180147800-180166000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:180148000-180165400	Strong transcription	NHEK	skin
43	chr1:180148000-180168400	Strong transcription	Stomach Smooth Muscle	stomach
44	chr1:180148200-180154200	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr1:180148200-180159600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:180148200-180161400	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr1:180148200-180162800	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:180148400-180153000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:180148600-180156000	Strong transcription	HUVEC	blood vessel
50	chr1:180148600-180168800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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