Variant report

Variant	rs57155388
Chromosome Location	chr12:120443473-120443474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120442698..120445126-chr12:120517597..120519391,2	MCF-7	breast:
2	chr12:120443342..120446063-chr12:120447694..120450232,2	MCF-7	breast:
3	chr12:120426878..120429216-chr12:120443292..120445570,2	MCF-7	breast:
4	chr12:120442761..120445274-chr12:120486200..120488190,2	MCF-7	breast:
5	chr12:120442635..120444845-chr12:120516019..120517526,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272464	Chromatin interaction
ENSG00000135127	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1054631	1.00[ASN][1000 genomes]
rs16949854	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16949862	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16949870	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16949914	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286041	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28613380	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56105460	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56152568	0.94[ASN][1000 genomes]
rs56939014	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57339959	1.00[ASN][1000 genomes]
rs57458743	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59868595	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60106911	1.00[ASN][1000 genomes]
rs60223336	1.00[ASN][1000 genomes]
rs60590470	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61514727	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490279	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6490282	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132099	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7139151	1.00[ASN][1000 genomes]
rs7297564	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298081	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304560	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956221	1.00[ASN][1000 genomes]
rs7957325	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899554	chr12:120389613-120513625	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv1797666	chr12:120426666-120449259	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1807589	chr12:120426666-120449259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120428600-120445000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:120428600-120449800	Weak transcription	Brain Anterior Caudate	brain
3	chr12:120428600-120453200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:120428800-120444000	Weak transcription	NHEK	skin
5	chr12:120428800-120444200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:120428800-120447800	Weak transcription	Gastric	stomach
7	chr12:120428800-120451400	Weak transcription	HMEC	breast
8	chr12:120428800-120451600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:120429000-120443800	Weak transcription	Hela-S3	cervix
10	chr12:120429000-120450000	Weak transcription	Esophagus	oesophagus
11	chr12:120429400-120445200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:120429800-120445400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:120433000-120444200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr12:120433200-120445000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:120434200-120444800	Weak transcription	Primary B cells from cord blood	blood
16	chr12:120436600-120443600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
17	chr12:120437000-120445200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:120437800-120462400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:120438000-120443600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:120438600-120443800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:120438600-120444400	Weak transcription	Thymus	Thymus
22	chr12:120438600-120445000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:120438600-120445000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:120438800-120451400	Weak transcription	A549	lung
25	chr12:120439000-120445000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:120440400-120444400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:120440400-120444400	Weak transcription	Fetal Thymus	thymus
28	chr12:120441600-120444400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:120441800-120443800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr12:120442000-120443600	Weak transcription	Primary T cells from cord blood	blood
31	chr12:120442200-120451400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:120442600-120444400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:120442600-120445200	Weak transcription	HepG2	liver
34	chr12:120443200-120445400	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr12:120443200-120446000	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr12:120443200-120446400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr12:120443400-120444400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:120443400-120446000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr12:120443400-120446400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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