Variant report

Variant	rs12144725
Chromosome Location	chr1:209567505-209567506
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209565872..209577230-chr1:209599783..209610462,26	MCF-7	breast:
2	chr1:209566790..209569253-chr1:209606717..209608620,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230937	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12116965	0.85[EUR][1000 genomes]
rs12119349	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12119464	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12119465	0.83[EUR][1000 genomes]
rs12120757	0.90[EUR][1000 genomes]
rs12120796	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12121931	0.90[EUR][1000 genomes]
rs12124710	0.83[EUR][1000 genomes]
rs12125098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs12125358	0.90[EUR][1000 genomes]
rs12128640	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12135244	0.88[EUR][1000 genomes]
rs12135550	0.92[YRI][hapmap]
rs12136870	0.85[EUR][1000 genomes]
rs12137134	0.83[EUR][1000 genomes]
rs12137788	1.00[CEU][hapmap]
rs12139847	0.88[EUR][1000 genomes]
rs12140172	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12140436	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12140751	0.94[EUR][1000 genomes]
rs12140933	0.81[AFR][1000 genomes]
rs12142846	0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs12144443	0.81[EUR][1000 genomes]
rs12144663	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12145858	0.85[EUR][1000 genomes]
rs1354851	0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs1986792	0.87[AFR][1000 genomes]
rs55892452	0.87[AFR][1000 genomes]
rs6667906	0.86[AFR][1000 genomes]
rs6674793	0.80[AFR][1000 genomes]
rs74155466	0.83[EUR][1000 genomes]
rs74155471	0.85[EUR][1000 genomes]
rs74155478	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209553200-209568600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:209561000-209571400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:209563200-209571400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:209563200-209572800	Weak transcription	Esophagus	oesophagus
5	chr1:209563400-209568000	Weak transcription	A549	lung
6	chr1:209563400-209568600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:209563400-209568600	Weak transcription	Hela-S3	cervix
8	chr1:209563400-209568600	Weak transcription	Osteobl	bone
9	chr1:209563400-209568800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:209563600-209568600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:209563600-209568600	Weak transcription	NHLF	lung
12	chr1:209563600-209571200	Weak transcription	HSMM	muscle
13	chr1:209563600-209571400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:209563600-209571600	Weak transcription	NH-A	brain
15	chr1:209564400-209567800	Weak transcription	NHEK	skin
16	chr1:209564400-209568400	Weak transcription	HMEC	breast
17	chr1:209564400-209568600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:209565400-209568400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:209565400-209570000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:209565800-209571600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:209566000-209568200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:209566000-209568600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:209566000-209571200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:209566200-209567800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:209566200-209571400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:209566400-209568000	Weak transcription	Fetal Stomach	stomach
27	chr1:209566400-209571200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:209567200-209568800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr1:209567200-209569200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr1:209567200-209569200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:209567200-209584600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr1:209567400-209567600	Enhancers	H1 Cell Line	embryonic stem cell
33	chr1:209567400-209567800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:209567400-209568200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr1:209567400-209569200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr1:209567400-209571200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:209567400-209575600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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