Variant report

Variant	nsv584053
Chromosome Location	chr2:189184422-189245515
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:45)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:189228878..189231358-chr2:189242598..189245349,3	MCF-7	breast:
2	chr2:189216542..189219160-chr2:189223081..189224726,2	MCF-7	breast:
3	chr2:189192790..189195620-chr2:189206349..189207946,2	MCF-7	breast:
4	chr2:189159403..189162059-chr2:189193708..189195307,2	K562	blood:
5	chr2:188707924..188708424-chr2:189233846..189234774,2	MCF-7	breast:
6	chr2:189186452..189188771-chr2:189190439..189192055,2	MCF-7	breast:
7	chr2:189206358..189208167-chr2:189210303..189213295,2	K562	blood:
8	chr2:189212933..189215088-chr2:189218654..189220782,2	MCF-7	breast:
9	chr2:189207622..189210437-chr2:189226980..189229019,2	K562	blood:
10	chr2:189157075..189159103-chr2:189189922..189191822,3	K562	blood:
11	chr2:189205126..189207839-chr2:189209515..189212152,3	MCF-7	breast:
12	chr2:189156427..189160122-chr2:189230597..189233681,4	MCF-7	breast:
13	chr2:189198100..189200687-chr2:189228875..189230622,2	MCF-7	breast:
14	chr2:189212933..189215088-chr2:189218654..189220782,2	MCF-7	breast:
15	chr2:189216542..189219160-chr2:189223081..189224726,2	MCF-7	breast:
16	chr2:189167037..189169913-chr2:189190017..189191810,2	K562	blood:
17	chr2:189243159..189245968-chr2:189269525..189271329,2	MCF-7	breast:
18	chr2:189192790..189195620-chr2:189206349..189207946,2	MCF-7	breast:
19	chr2:189206358..189208167-chr2:189210303..189213295,2	K562	blood:
20	chr2:189157973..189160899-chr2:189186398..189188411,2	MCF-7	breast:
21	chr2:189156150..189156735-chr2:189233795..189234763,2	MCF-7	breast:
22	chr2:189155560..189158939-chr2:189231780..189236991,6	MCF-7	breast:
23	chr2:189202492..189204837-chr2:189207740..189211799,3	K562	blood:
24	chr2:189186048..189188901-chr2:189195647..189197599,2	K562	blood:
25	chr2:189156137..189157141-chr2:189233874..189234902,3	MCF-7	breast:
26	chr2:189198100..189200687-chr2:189228875..189230622,2	MCF-7	breast:
27	chr2:188994514..188995025-chr2:189228372..189228945,2	MCF-7	breast:
28	chr2:189205126..189207839-chr2:189209515..189212152,3	MCF-7	breast:
29	chr2:189028049..189028737-chr2:189234214..189234730,2	K562	blood:
30	chr2:189228878..189231358-chr2:189242598..189245349,3	MCF-7	breast:
31	chr2:189176846..189180605-chr2:189180936..189184581,4	K562	blood:
32	chr2:189201975..189204837-chr2:189208043..189211799,3	K562	blood:
33	chr2:189201975..189204837-chr2:189208043..189211799,3	K562	blood:
34	chr2:189182622..189184644-chr2:189189029..189191672,2	K562	blood:
35	chr2:189182622..189184644-chr2:189189029..189191672,2	K562	blood:
36	chr2:189202492..189204837-chr2:189207740..189211799,3	K562	blood:
37	chr2:189211594..189213777-chr2:189218302..189220048,2	MCF-7	breast:
38	chr2:189207622..189210437-chr2:189226980..189229019,2	K562	blood:
39	chr2:189186452..189188771-chr2:189190439..189192055,2	MCF-7	breast:
40	chr2:189155671..189159103-chr2:189189018..189193192,5	K562	blood:
41	chr2:189186048..189188901-chr2:189195647..189197599,2	K562	blood:
42	chr2:189156802..189157479-chr2:189233856..189234710,2	MCF-7	breast:
43	chr2:189153673..189157464-chr2:189183823..189187433,3	MCF-7	breast:
44	chr2:189211594..189213777-chr2:189218302..189220048,2	MCF-7	breast:
45	chr2:189181542..189183620-chr2:189198410..189201258,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000144366	chromatin interactions

Extended variants
information (count: 2030 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:2030 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4640356	chr2:189184422-189184423	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs193229134	chr2:189184428-189184429	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs536283693	chr2:189184448-189184449	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs547871661	chr2:189184463-189184464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529167296	chr2:189184541-189184542	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs184880355	chr2:189184564-189184565	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs76094605	chr2:189184566-189184567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547161612	chr2:189184569-189184570	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs537101996	chr2:189184578-189184579	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533196161	chr2:189184588-189184589	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187346853	chr2:189184669-189184670	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs73036430	chr2:189184671-189184672	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577083442	chr2:189184676-189184677	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs565847495	chr2:189184790-189184791	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534495642	chr2:189184807-189184808	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs191927932	chr2:189184857-189184858	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs73036433	chr2:189184866-189184867	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs184354591	chr2:189184898-189184899	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs560906673	chr2:189184935-189184936	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs4430902	chr2:189184937-189184938	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs189739891	chr2:189185099-189185100	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565018490	chr2:189185115-189185116	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs532604068	chr2:189185117-189185118	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs4453654	chr2:189185131-189185132	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs13404958	chr2:189185194-189185195	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs549009243	chr2:189185249-189185250	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555807864	chr2:189185253-189185254	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs142952096	chr2:189185320-189185321	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs181335434	chr2:189185359-189185360	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs75999011	chr2:189185367-189185368	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs7419883	chr2:189185413-189185414	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs553416474	chr2:189185432-189185433	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs374423858	chr2:189185461-189185462	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs184409463	chr2:189185465-189185466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs200468375	chr2:189185515-189185516	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs35955212	chr2:189185567-189185568	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs201678768	chr2:189185643-189185644	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs12987018	chr2:189185659-189185660	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs564164652	chr2:189185660-189185661	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs574686313	chr2:189185662-189185663	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs12987553	chr2:189185665-189185666	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs189286088	chr2:189185682-189185683	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs12987194	chr2:189185726-189185727	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs386653629	chr2:189185747-189185748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs4381753	chr2:189185755-189185756	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs577261879	chr2:189185757-189185758	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs181899781	chr2:189185838-189185839	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs559647677	chr2:189185986-189185987	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs186302086	chr2:189186102-189186103	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs548870863	chr2:189186119-189186120	Weak transcription Enhancers	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:778 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

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	chr2:189181600-189185000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:189181800-189187400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:189182000-189187000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:189182000-189191400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:189182000-189192200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:189182600-189185800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:189183000-189187200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:189183000-189196000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:189183200-189185000	Enhancers	A549	lung
15	chr2:189183400-189184600	Enhancers	HUVEC	blood vessel
16	chr2:189183400-189187000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:189183400-189187000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:189183400-189187000	Weak transcription	Stomach Mucosa	stomach
19	chr2:189183400-189187400	Weak transcription	NH-A	brain
20	chr2:189183400-189197200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:189183400-189198400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:189183600-189184600	Weak transcription	Gastric	stomach
23	chr2:189183600-189187000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:189183600-189187000	Weak transcription	NHDF-Ad	bronchial
25	chr2:189183600-189205000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:189183600-189205400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:189183800-189187000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:189183800-189187000	Weak transcription	Osteobl	bone
29	chr2:189183800-189187200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:189183800-189187400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:189183800-189187400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:189183800-189187400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:189183800-189187400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:189183800-189187400	Weak transcription	Aorta	Aorta
35	chr2:189183800-189198600	Weak transcription	Ovary	ovary
36	chr2:189184200-189185000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr2:189184400-189185000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:189184400-189185000	Enhancers	Pancreas	Pancrea
39	chr2:189184400-189185200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:189184400-189185400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr2:189184600-189185000	Enhancers	Gastric	stomach
42	chr2:189184600-189185400	Genic enhancers	HUVEC	blood vessel
43	chr2:189184800-189185000	Enhancers	Placenta	Placenta
44	chr2:189185000-189186400	Weak transcription	A549	lung
45	chr2:189185000-189186800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:189185000-189186800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:189185000-189187200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:189185000-189191600	Weak transcription	Placenta	Placenta
49	chr2:189185200-189185400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:189185200-189187000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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