Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44385802..44388469-chr12:44397794..44400628,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11836308	1.00[ASN][1000 genomes]
rs4323934	1.00[ASN][1000 genomes]
rs55996795	0.82[ASN][1000 genomes]
rs56737736	1.00[ASN][1000 genomes]
rs57065008	1.00[ASN][1000 genomes]
rs57781916	1.00[ASN][1000 genomes]
rs58703100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60979741	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61285473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298388	1.00[ASN][1000 genomes]
rs73085755	1.00[ASN][1000 genomes]
rs73286225	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73286232	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73286235	1.00[ASN][1000 genomes]
rs73286249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73286255	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73286269	0.82[AFR][1000 genomes]
rs74084785	1.00[ASN][1000 genomes]
rs7965099	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7967335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7967835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44361400-44401400	Weak transcription	Aorta	Aorta
2	chr12:44383200-44402400	Weak transcription	HSMMtube	muscle
3	chr12:44384400-44399600	Weak transcription	Fetal Intestine Small	intestine
4	chr12:44390800-44439200	Weak transcription	Esophagus	oesophagus
5	chr12:44394600-44400000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:44394600-44403200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:44394800-44401800	Weak transcription	HMEC	breast
8	chr12:44395000-44401400	Weak transcription	Fetal Intestine Large	intestine
9	chr12:44398000-44402400	Weak transcription	HSMM	muscle
10	chr12:44399200-44400200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:44399200-44401800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:44399400-44399600	ZNF genes & repeats	Ovary	ovary
13	chr12:44399400-44399800	Weak transcription	Psoas Muscle	Psoas
14	chr12:44399400-44401000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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