Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:106331505..106334070-chr12:106336834..106339548,2	MCF-7	breast:
2	chr12:106326499..106332666-chr12:106530301..106534417,9	MCF-7	breast:
3	chr12:106322923..106333063-chr12:106528610..106534226,20	MCF-7	breast:
4	chr12:106316278..106317895-chr12:106330750..106333564,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000074590	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10507205	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11112811	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12301159	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12311347	1.00[EUR][1000 genomes]
rs12314342	1.00[EUR][1000 genomes]
rs13378063	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1421450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17037848	1.00[EUR][1000 genomes]
rs17037959	1.00[EUR][1000 genomes]
rs17037993	1.00[EUR][1000 genomes]
rs17038001	1.00[EUR][1000 genomes]
rs17038024	1.00[EUR][1000 genomes]
rs34404995	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41513347	1.00[EUR][1000 genomes]
rs6539236	1.00[EUR][1000 genomes]
rs7135356	1.00[EUR][1000 genomes]
rs7298805	1.00[EUR][1000 genomes]
rs7299337	1.00[EUR][1000 genomes]
rs7312705	1.00[EUR][1000 genomes]
rs73391203	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73391208	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73391222	1.00[EUR][1000 genomes]
rs744346	1.00[EUR][1000 genomes]
rs744347	1.00[EUR][1000 genomes]
rs7968919	0.85[AMR][1000 genomes];1.00[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	nsv832508	chr12:106198797-106409112	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106324600-106332000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr12:106324800-106332200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:106324800-106332400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:106325200-106332400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:106325400-106336600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:106325600-106335200	Enhancers	HMEC	breast
7	chr12:106327200-106335000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:106328200-106339200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:106328600-106335000	Enhancers	NHEK	skin
10	chr12:106330600-106332200	Enhancers	HSMMtube	muscle
11	chr12:106330600-106334000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:106331000-106332400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:106331000-106332600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:106331000-106337200	Weak transcription	HSMM	muscle
15	chr12:106331000-106337400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:106331800-106334800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

Quick Search: