Variant report

Variant	rs12125358
Chromosome Location	chr1:209579235-209579236
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209578782..209580736-chr1:209606729..209608794,2	MCF-7	breast:
2	chr1:209577721..209579669-chr1:209582737..209584815,2	MCF-7	breast:
3	chr1:209578408..209580346-chr1:209604580..209606494,2	MCF-7	breast:
4	chr1:209576552..209581485-chr1:209581592..209585768,7	MCF-7	breast:
5	chr1:209577431..209579608-chr1:209581964..209584612,3	K562	blood:

Variant related genes	Relation type
ENSG00000230937	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12119349	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12119464	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12119465	0.84[EUR][1000 genomes]
rs12120757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120796	0.91[EUR][1000 genomes]
rs12121931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124710	0.84[EUR][1000 genomes]
rs12126305	0.80[EUR][1000 genomes]
rs12126769	0.80[EUR][1000 genomes]
rs12128640	0.86[EUR][1000 genomes]
rs12135244	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12136870	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12137134	0.84[EUR][1000 genomes]
rs12137788	0.80[EUR][1000 genomes]
rs12139847	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12140172	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12140436	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12140751	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12144443	0.82[EUR][1000 genomes]
rs12144663	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144725	0.90[EUR][1000 genomes]
rs12145008	0.80[EUR][1000 genomes]
rs6668608	0.80[EUR][1000 genomes]
rs74155466	0.84[EUR][1000 genomes]
rs74155471	0.86[EUR][1000 genomes]
rs74155478	0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209567200-209584600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:209573000-209583000	Weak transcription	NHDF-Ad	bronchial
3	chr1:209573000-209590200	Weak transcription	Fetal Thymus	thymus
4	chr1:209575600-209580000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:209577000-209579400	Flanking Active TSS	NHEK	skin
6	chr1:209577000-209580200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:209577000-209580200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:209577200-209580200	Enhancers	NH-A	brain
9	chr1:209577400-209579600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:209577400-209579800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:209577600-209580000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:209577800-209579800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:209577800-209580000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:209577800-209580400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:209578000-209579600	Enhancers	HSMMtube	muscle
16	chr1:209578000-209579800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:209578000-209580000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:209578000-209580000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:209578200-209579400	Enhancers	A549	lung
20	chr1:209578200-209579600	Enhancers	Fetal Stomach	stomach
21	chr1:209578200-209579800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr1:209578200-209580000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr1:209578400-209579400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:209578400-209579400	Flanking Active TSS	Osteobl	bone
25	chr1:209578400-209579600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:209578400-209580200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:209578600-209579800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:209578600-209580000	Enhancers	HSMM	muscle
29	chr1:209578800-209583600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr1:209578800-209584800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:209579000-209579400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr1:209579000-209579400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:209579000-209579400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr1:209579000-209579800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:209579000-209580000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr1:209579000-209580000	Enhancers	NHLF	lung
37	chr1:209579000-209581400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:209579000-209583000	Weak transcription	Hela-S3	cervix
39	chr1:209579200-209580000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:209579200-209580000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:209579200-209580200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr1:209579200-209580200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr1:209579200-209581000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr1:209579200-209582800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:209579200-209584400	Enhancers	HMEC	breast

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