Variant report

Variant	nsv584054
Chromosome Location	chr2:189185726-189233419
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:189182622..189184644-chr2:189189029..189191672,2	K562	blood:
2	chr2:189192790..189195620-chr2:189206349..189207946,2	MCF-7	breast:
3	chr2:189205126..189207839-chr2:189209515..189212152,3	MCF-7	breast:
4	chr2:189186452..189188771-chr2:189190439..189192055,2	MCF-7	breast:
5	chr2:189216542..189219160-chr2:189223081..189224726,2	MCF-7	breast:
6	chr2:189186048..189188901-chr2:189195647..189197599,2	K562	blood:
7	chr2:189155560..189158939-chr2:189231780..189236991,6	MCF-7	breast:
8	chr2:189159403..189162059-chr2:189193708..189195307,2	K562	blood:
9	chr2:189157075..189159103-chr2:189189922..189191822,3	K562	blood:
10	chr2:189206358..189208167-chr2:189210303..189213295,2	K562	blood:
11	chr2:189156427..189160122-chr2:189230597..189233681,4	MCF-7	breast:
12	chr2:189181542..189183620-chr2:189198410..189201258,2	K562	blood:
13	chr2:189167037..189169913-chr2:189190017..189191810,2	K562	blood:
14	chr2:189198100..189200687-chr2:189228875..189230622,2	MCF-7	breast:
15	chr2:189212933..189215088-chr2:189218654..189220782,2	MCF-7	breast:
16	chr2:189212933..189215088-chr2:189218654..189220782,2	MCF-7	breast:
17	chr2:189216542..189219160-chr2:189223081..189224726,2	MCF-7	breast:
18	chr2:189206358..189208167-chr2:189210303..189213295,2	K562	blood:
19	chr2:189211594..189213777-chr2:189218302..189220048,2	MCF-7	breast:
20	chr2:189228878..189231358-chr2:189242598..189245349,3	MCF-7	breast:
21	chr2:189207622..189210437-chr2:189226980..189229019,2	K562	blood:
22	chr2:189153673..189157464-chr2:189183823..189187433,3	MCF-7	breast:
23	chr2:189207622..189210437-chr2:189226980..189229019,2	K562	blood:
24	chr2:189201975..189204837-chr2:189208043..189211799,3	K562	blood:
25	chr2:189198100..189200687-chr2:189228875..189230622,2	MCF-7	breast:
26	chr2:189201975..189204837-chr2:189208043..189211799,3	K562	blood:
27	chr2:189155671..189159103-chr2:189189018..189193192,5	K562	blood:
28	chr2:189192790..189195620-chr2:189206349..189207946,2	MCF-7	breast:
29	chr2:188994514..188995025-chr2:189228372..189228945,2	MCF-7	breast:
30	chr2:189202492..189204837-chr2:189207740..189211799,3	K562	blood:
31	chr2:189157973..189160899-chr2:189186398..189188411,2	MCF-7	breast:
32	chr2:189205126..189207839-chr2:189209515..189212152,3	MCF-7	breast:
33	chr2:189202492..189204837-chr2:189207740..189211799,3	K562	blood:
34	chr2:189211594..189213777-chr2:189218302..189220048,2	MCF-7	breast:
35	chr2:189186048..189188901-chr2:189195647..189197599,2	K562	blood:
36	chr2:189186452..189188771-chr2:189190439..189192055,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000144366	chromatin interactions

Extended variants
information (count: 1563 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1563 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12987194	chr2:189185726-189185727	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs386653629	chr2:189185747-189185748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs4381753	chr2:189185755-189185756	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577261879	chr2:189185757-189185758	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs181899781	chr2:189185838-189185839	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs559647677	chr2:189185986-189185987	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186302086	chr2:189186102-189186103	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs548870863	chr2:189186119-189186120	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs191045125	chr2:189186140-189186141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12988577	chr2:189186150-189186151	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs374161576	chr2:189186155-189186156	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs74739385	chr2:189186215-189186216	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs181509326	chr2:189186285-189186286	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs186807170	chr2:189186298-189186299	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs546789301	chr2:189186307-189186308	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568136089	chr2:189186325-189186326	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs10189197	chr2:189186382-189186383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533146967	chr2:189186464-189186465	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs556872641	chr2:189186510-189186511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs568802994	chr2:189186515-189186516	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs537091783	chr2:189186531-189186532	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs558474742	chr2:189186546-189186547	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs374648450	chr2:189186561-189186562	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs10189416	chr2:189186574-189186575	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs541129829	chr2:189186588-189186589	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs10180687	chr2:189186634-189186635	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs537558108	chr2:189186673-189186674	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs574961698	chr2:189186696-189186697	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs542425864	chr2:189186711-189186712	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs564010978	chr2:189186720-189186721	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs6716852	chr2:189186735-189186736	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs545825395	chr2:189186773-189186774	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs199523338	chr2:189186775-189186776	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs13386579	chr2:189186882-189186883	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs75295076	chr2:189186915-189186916	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs546409541	chr2:189186931-189186932	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs568134796	chr2:189186972-189186973	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs72907642	chr2:189187013-189187014	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs375930576	chr2:189187028-189187029	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs79316002	chr2:189187029-189187030	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs150501572	chr2:189187078-189187079	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs191352632	chr2:189187094-189187095	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539305379	chr2:189187112-189187113	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs558542261	chr2:189187118-189187119	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs183108385	chr2:189187125-189187126	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs578191173	chr2:189187190-189187191	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187843538	chr2:189187226-189187227	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs12995727	chr2:189187300-189187301	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs139630150	chr2:189187353-189187354	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542446392	chr2:189187354-189187355	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:663 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189169400-189187200	Weak transcription	NHLF	lung
2	chr2:189178400-189191400	Weak transcription	Fetal Lung	lung
3	chr2:189179400-189187600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:189179800-189187400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:189180400-189187400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:189181800-189187400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:189182000-189187000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:189182000-189191400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:189182000-189192200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:189182600-189185800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:189183000-189187200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:189183000-189196000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:189183400-189187000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:189183400-189187000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:189183400-189187000	Weak transcription	Stomach Mucosa	stomach
16	chr2:189183400-189187400	Weak transcription	NH-A	brain
17	chr2:189183400-189197200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:189183400-189198400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:189183600-189187000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:189183600-189187000	Weak transcription	NHDF-Ad	bronchial
21	chr2:189183600-189205000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:189183600-189205400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:189183800-189187000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:189183800-189187000	Weak transcription	Osteobl	bone
25	chr2:189183800-189187200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:189183800-189187400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:189183800-189187400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:189183800-189187400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:189183800-189187400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:189183800-189187400	Weak transcription	Aorta	Aorta
31	chr2:189183800-189198600	Weak transcription	Ovary	ovary
32	chr2:189185000-189186400	Weak transcription	A549	lung
33	chr2:189185000-189186800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:189185000-189186800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:189185000-189187200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:189185000-189191600	Weak transcription	Placenta	Placenta
37	chr2:189185200-189187000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:189185400-189187000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:189185400-189187200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:189185400-189189200	Enhancers	HUVEC	blood vessel
41	chr2:189185800-189187000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:189186400-189186800	Enhancers	A549	lung
43	chr2:189186800-189187600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr2:189186800-189188000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr2:189186800-189188600	Flanking Active TSS	A549	lung
46	chr2:189187000-189187400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:189187000-189188000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr2:189187000-189188000	Enhancers	Stomach Mucosa	stomach
49	chr2:189187000-189188200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr2:189187000-189188400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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