Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106372047..106374464-chr12:106379767..106381651,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10507205	1.00[EUR][1000 genomes]
rs11112802	1.00[EUR][1000 genomes]
rs11112811	1.00[EUR][1000 genomes]
rs12301159	1.00[EUR][1000 genomes]
rs12311347	1.00[EUR][1000 genomes]
rs12314342	1.00[EUR][1000 genomes]
rs13378063	1.00[EUR][1000 genomes]
rs1421450	1.00[EUR][1000 genomes]
rs17037848	1.00[EUR][1000 genomes]
rs17037959	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17037993	1.00[EUR][1000 genomes]
rs17038001	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17038024	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34404995	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]
rs7312705	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73391203	1.00[EUR][1000 genomes]
rs73391208	1.00[EUR][1000 genomes]
rs73391222	1.00[EUR][1000 genomes]
rs744346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs744347	1.00[EUR][1000 genomes]
rs7968919	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106372000-106380800	Weak transcription	Osteobl	bone
2	chr12:106372000-106381600	Weak transcription	NHLF	lung
3	chr12:106373200-106381000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:106376600-106381000	Weak transcription	Psoas Muscle	Psoas
5	chr12:106377400-106381000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:106378000-106380800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:106378000-106386200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:106378200-106380800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:106378200-106380800	Weak transcription	Fetal Heart	heart
10	chr12:106378200-106380800	Weak transcription	NH-A	brain
11	chr12:106378200-106381000	Weak transcription	NHDF-Ad	bronchial
12	chr12:106378200-106381200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:106378400-106380800	Weak transcription	HMEC	breast
14	chr12:106378400-106380800	Weak transcription	HSMM	muscle
15	chr12:106378800-106380800	Weak transcription	HSMMtube	muscle
16	chr12:106380200-106381800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:106380200-106381800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:106380400-106381200	Enhancers	GM12878-XiMat	blood

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