Variant report

Variant	nsv1010330
Chromosome Location	chr2:189182307-189265614
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:49)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:189156802..189157479-chr2:189233856..189234710,2	MCF-7	breast:
2	chr2:189205126..189207839-chr2:189209515..189212152,3	MCF-7	breast:
3	chr2:189156150..189156735-chr2:189233795..189234763,2	MCF-7	breast:
4	chr2:189186452..189188771-chr2:189190439..189192055,2	MCF-7	breast:
5	chr2:189201975..189204837-chr2:189208043..189211799,3	K562	blood:
6	chr2:189202492..189204837-chr2:189207740..189211799,3	K562	blood:
7	chr2:189211594..189213777-chr2:189218302..189220048,2	MCF-7	breast:
8	chr2:189212933..189215088-chr2:189218654..189220782,2	MCF-7	breast:
9	chr2:189192790..189195620-chr2:189206349..189207946,2	MCF-7	breast:
10	chr2:189198100..189200687-chr2:189228875..189230622,2	MCF-7	breast:
11	chr2:189186452..189188771-chr2:189190439..189192055,2	MCF-7	breast:
12	chr2:189228878..189231358-chr2:189242598..189245349,3	MCF-7	breast:
13	chr2:189156427..189160122-chr2:189230597..189233681,4	MCF-7	breast:
14	chr2:189207622..189210437-chr2:189226980..189229019,2	K562	blood:
15	chr2:189155671..189159103-chr2:189189018..189193192,5	K562	blood:
16	chr2:189205126..189207839-chr2:189209515..189212152,3	MCF-7	breast:
17	chr2:189228878..189231358-chr2:189242598..189245349,3	MCF-7	breast:
18	chr2:189207622..189210437-chr2:189226980..189229019,2	K562	blood:
19	chr2:189028049..189028737-chr2:189234214..189234730,2	K562	blood:
20	chr2:188994514..188995025-chr2:189228372..189228945,2	MCF-7	breast:
21	chr2:189212933..189215088-chr2:189218654..189220782,2	MCF-7	breast:
22	chr2:189157973..189160899-chr2:189186398..189188411,2	MCF-7	breast:
23	chr2:189182622..189184644-chr2:189189029..189191672,2	K562	blood:
24	chr2:189206358..189208167-chr2:189210303..189213295,2	K562	blood:
25	chr2:189252210..189254786-chr2:189270636..189272826,2	MCF-7	breast:
26	chr2:189192790..189195620-chr2:189206349..189207946,2	MCF-7	breast:
27	chr2:189206358..189208167-chr2:189210303..189213295,2	K562	blood:
28	chr2:189181542..189183620-chr2:189198410..189201258,2	K562	blood:
29	chr2:189156137..189157141-chr2:189233874..189234902,3	MCF-7	breast:
30	chr2:189201975..189204837-chr2:189208043..189211799,3	K562	blood:
31	chr2:189155560..189158939-chr2:189231780..189236991,6	MCF-7	breast:
32	chr2:189216542..189219160-chr2:189223081..189224726,2	MCF-7	breast:
33	chr2:189216542..189219160-chr2:189223081..189224726,2	MCF-7	breast:
34	chr2:189176846..189180605-chr2:189180936..189184581,4	K562	blood:
35	chr2:189198100..189200687-chr2:189228875..189230622,2	MCF-7	breast:
36	chr2:189243159..189245968-chr2:189269525..189271329,2	MCF-7	breast:
37	chr2:189167037..189169913-chr2:189190017..189191810,2	K562	blood:
38	chr2:189186048..189188901-chr2:189195647..189197599,2	K562	blood:
39	chr2:189182622..189184644-chr2:189189029..189191672,2	K562	blood:
40	chr2:189211594..189213777-chr2:189218302..189220048,2	MCF-7	breast:
41	chr2:189157067..189161608-chr2:189179360..189183934,6	K562	blood:
42	chr2:189157075..189159103-chr2:189189922..189191822,3	K562	blood:
43	chr2:189186048..189188901-chr2:189195647..189197599,2	K562	blood:
44	chr2:189153673..189157464-chr2:189183823..189187433,3	MCF-7	breast:
45	chr2:189159403..189162059-chr2:189193708..189195307,2	K562	blood:
46	chr2:188707924..188708424-chr2:189233846..189234774,2	MCF-7	breast:
47	chr2:189156172..189158874-chr2:189261815..189263750,2	MCF-7	breast:
48	chr2:189181542..189183620-chr2:189198410..189201258,2	K562	blood:
49	chr2:189202492..189204837-chr2:189207740..189211799,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000144366	chromatin interactions

Extended variants
information (count: 2818 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:2818 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10931347	chr2:189182307-189182308	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538488269	chr2:189182387-189182388	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs200774186	chr2:189182449-189182450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555754293	chr2:189182462-189182463	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs577248139	chr2:189182466-189182467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553562690	chr2:189182510-189182511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs10931348	chr2:189182521-189182522	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs574123009	chr2:189182523-189182524	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs71399275	chr2:189182524-189182525	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs572106102	chr2:189182550-189182551	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs115374367	chr2:189182559-189182560	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542460279	chr2:189182624-189182625	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190795876	chr2:189182671-189182672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs531524281	chr2:189182690-189182691	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs550073443	chr2:189182711-189182712	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs565153330	chr2:189182764-189182765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs34049932	chr2:189182786-189182787	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs533398675	chr2:189182795-189182796	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs112271755	chr2:189182805-189182806	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs140238323	chr2:189182834-189182835	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs200620878	chr2:189182835-189182836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372369035	chr2:189182836-189182837	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs183065186	chr2:189182867-189182868	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs78015792	chr2:189182868-189182869	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs569137132	chr2:189182916-189182917	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs558000556	chr2:189182956-189182957	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs78717520	chr2:189182980-189182981	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs201976730	chr2:189183013-189183014	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs149055526	chr2:189183014-189183015	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375918342	chr2:189183015-189183016	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538167339	chr2:189183057-189183058	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs372647424	chr2:189183152-189183153	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs141654261	chr2:189183162-189183163	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs538296241	chr2:189183173-189183174	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs7579554	chr2:189183201-189183202	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs72907635	chr2:189183211-189183212	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs542673002	chr2:189183243-189183244	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs147050765	chr2:189183247-189183248	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs576215418	chr2:189183268-189183269	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs543625283	chr2:189183319-189183320	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs138394106	chr2:189183326-189183327	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs532444518	chr2:189183363-189183364	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545420755	chr2:189183375-189183376	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs143177248	chr2:189183382-189183383	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs560454858	chr2:189183457-189183458	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs527796029	chr2:189183517-189183518	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549427574	chr2:189183532-189183533	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs574389918	chr2:189183542-189183543	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs559367759	chr2:189183554-189183555	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs117214481	chr2:189183596-189183597	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:1174 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189168200-189183200	Weak transcription	Ovary	ovary
2	chr2:189168800-189183200	Weak transcription	A549	lung
3	chr2:189169400-189187200	Weak transcription	NHLF	lung
4	chr2:189170600-189183200	Weak transcription	Gastric	stomach
5	chr2:189172800-189182600	Weak transcription	NHDF-Ad	bronchial
6	chr2:189178400-189191400	Weak transcription	Fetal Lung	lung
7	chr2:189179000-189183000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:189179400-189183200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:189179400-189187600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:189179600-189182600	Weak transcription	Osteobl	bone
11	chr2:189179800-189183200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:189179800-189187400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:189180000-189183000	Weak transcription	NH-A	brain
14	chr2:189180400-189187400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:189181000-189183200	Enhancers	HUVEC	blood vessel
16	chr2:189181600-189185000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:189181800-189183200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:189181800-189187400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:189182000-189183000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:189182000-189183000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:189182000-189183000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:189182000-189183200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:189182000-189183200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:189182000-189183200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:189182000-189183200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:189182000-189184400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:189182000-189187000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:189182000-189191400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:189182000-189192200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:189182200-189182600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:189182200-189182600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr2:189182600-189183400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:189182600-189183600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:189182600-189183600	Enhancers	NHDF-Ad	bronchial
35	chr2:189182600-189183800	Enhancers	Osteobl	bone
36	chr2:189182600-189185800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:189183000-189183200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr2:189183000-189183400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:189183000-189183400	Enhancers	Stomach Mucosa	stomach
40	chr2:189183000-189183400	Enhancers	NH-A	brain
41	chr2:189183000-189183800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:189183000-189187200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:189183000-189196000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr2:189183200-189183400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:189183200-189183400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:189183200-189183400	Flanking Active TSS	HUVEC	blood vessel
47	chr2:189183200-189183600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:189183200-189183600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:189183200-189183600	Enhancers	Gastric	stomach
50	chr2:189183200-189183800	Enhancers	H1 Cell Line	embryonic stem cell

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