Variant report

Variant	rs7970597
Chromosome Location	chr12:124385962-124385963
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124379452..124381499-chr12:124383777..124386818,3	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10773046	0.86[ASN][1000 genomes]
rs10773047	0.85[ASN][1000 genomes]
rs10846570	0.87[ASN][1000 genomes]
rs10846571	0.85[ASN][1000 genomes]
rs10846572	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10846573	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10846574	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10846575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10846576	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057388	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11057389	0.88[ASN][1000 genomes]
rs11057390	0.88[ASN][1000 genomes]
rs11057391	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12306328	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12307524	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12309481	0.99[ASN][1000 genomes]
rs1317386	0.82[ASN][1000 genomes]
rs2341569	0.95[ASN][1000 genomes]
rs28435362	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28528904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28654550	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34587940	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4390427	0.84[ASN][1000 genomes]
rs57078519	0.99[ASN][1000 genomes]
rs57316347	0.99[ASN][1000 genomes]
rs58411567	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61587964	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488910	0.97[ASN][1000 genomes]
rs7296123	0.88[ASN][1000 genomes]
rs7297429	0.81[ASN][1000 genomes]
rs7303634	0.88[ASN][1000 genomes]
rs7314278	0.88[ASN][1000 genomes]
rs7964324	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7976319	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7977078	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7978781	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv1811815	chr12:124374716-124424636	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1832870	chr12:124374716-124424636	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv522321	chr12:124383950-124424636	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124382000-124391400	Weak transcription	Fetal Lung	lung
2	chr12:124384000-124408400	Weak transcription	Fetal Brain Female	brain
3	chr12:124384200-124387000	Weak transcription	Spleen	Spleen
4	chr12:124385000-124387200	Enhancers	Fetal Thymus	thymus
5	chr12:124385200-124386000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:124385200-124386200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:124385200-124386200	Enhancers	Thymus	Thymus
8	chr12:124385400-124386000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:124385400-124386200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:124385400-124386200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:124385400-124386200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr12:124385400-124386200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:124385400-124386200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:124385400-124386200	Enhancers	Primary hematopoietic stem cells	blood
15	chr12:124385400-124386200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr12:124385400-124386200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:124385400-124386800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:124385400-124386800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:124385400-124390200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr12:124385600-124386000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr12:124385600-124386000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:124385600-124386000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr12:124385600-124386000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr12:124385600-124386000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr12:124385600-124386000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
26	chr12:124385600-124386000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:124385600-124386000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr12:124385600-124386000	Bivalent Enhancer	Placenta	Placenta
29	chr12:124385600-124386000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr12:124385600-124386000	Bivalent/Poised TSS	HepG2	liver
31	chr12:124385600-124386200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr12:124385600-124386200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:124385600-124386200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:124385600-124386200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:124385600-124386200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr12:124385600-124386200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:124385600-124386200	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr12:124385800-124386000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:124385800-124386000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr12:124385800-124386000	Enhancers	Fetal Heart	heart
41	chr12:124385800-124386200	Enhancers	Primary T cells from cord blood	blood

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