Variant report

Variant	rs61514727
Chromosome Location	chr12:120479562-120479563
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120479228..120480776-chr12:120492305..120495211,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255575	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1054631	1.00[ASN][1000 genomes]
rs16949854	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16949862	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16949870	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16949914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286041	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28613380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56105460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56152568	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56939014	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57155388	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57339959	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57458743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59868595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59911114	0.93[EUR][1000 genomes]
rs60106911	1.00[ASN][1000 genomes]
rs60223336	1.00[ASN][1000 genomes]
rs60590470	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60742518	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6490279	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6490282	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132099	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7139151	1.00[ASN][1000 genomes]
rs7297564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298081	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956221	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957325	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120454200-120484800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:120454600-120479600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:120477600-120479800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:120477800-120479600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr12:120478000-120480200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr12:120478200-120480000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:120478200-120480200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:120478400-120480000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:120478600-120479800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr12:120478600-120479800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr12:120478600-120480400	Enhancers	Stomach Mucosa	stomach
12	chr12:120478800-120480000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:120478800-120480000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr12:120479000-120479600	Enhancers	Primary T cells from cord blood	blood
15	chr12:120479000-120479600	Flanking Active TSS	HepG2	liver
16	chr12:120479000-120479800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr12:120479000-120479800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:120479000-120479800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr12:120479000-120480200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr12:120479200-120479600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr12:120479200-120479600	Enhancers	Brain Angular Gyrus	brain
22	chr12:120479200-120479600	Enhancers	Brain Germinal Matrix	brain
23	chr12:120479200-120479800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:120479200-120479800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr12:120479200-120479800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:120479200-120479800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr12:120479200-120479800	Enhancers	Liver	Liver
28	chr12:120479200-120479800	Enhancers	NHEK	skin
29	chr12:120479200-120480000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:120479200-120480000	Enhancers	Brain Cingulate Gyrus	brain
31	chr12:120479200-120480000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr12:120479200-120480000	Enhancers	Pancreas	Pancrea
33	chr12:120479200-120481200	Enhancers	HMEC	breast
34	chr12:120479200-120481400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:120479200-120481600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:120479200-120481600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:120479400-120479800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:120479400-120479800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:120479400-120479800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr12:120479400-120479800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:120479400-120480000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:120479400-120480200	Enhancers	Primary T helper cells fromperipheralblood	blood

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