Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42600866..42603997-chr5:42604471..42607198,4	MCF-7	breast:
2	chr5:42600348..42602106-chr5:42626580..42628400,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10440649	0.90[EUR][1000 genomes]
rs10941582	0.90[EUR][1000 genomes]
rs11948453	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11957404	0.83[EUR][1000 genomes]
rs13163126	0.85[EUR][1000 genomes]
rs13175765	0.85[EUR][1000 genomes]
rs13354167	0.93[EUR][1000 genomes]
rs28943882	0.92[EUR][1000 genomes]
rs35893798	0.93[EUR][1000 genomes]
rs4242115	0.81[ASN][1000 genomes]
rs4305645	0.83[ASN][1000 genomes]
rs4484445	0.86[ASN][1000 genomes]
rs4554233	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4866791	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6451626	0.86[ASN][1000 genomes]
rs6887718	0.88[ASN][1000 genomes]
rs7702524	0.85[EUR][1000 genomes]
rs7709370	0.93[EUR][1000 genomes]
rs7709790	0.93[EUR][1000 genomes]
rs7721816	0.86[ASN][1000 genomes]
rs9292854	0.93[EUR][1000 genomes]
rs9968669	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr5:42592000-42614400	Weak transcription	Aorta	Aorta
2	chr5:42592200-42605800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr5:42597000-42605600	Weak transcription	Fetal Muscle Leg	muscle
4	chr5:42598600-42603200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:42598600-42603800	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:42598600-42603800	Weak transcription	Left Ventricle	heart
7	chr5:42598600-42604200	Weak transcription	Right Ventricle	heart
8	chr5:42598600-42605800	Weak transcription	Right Atrium	heart
9	chr5:42598800-42603400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:42598800-42603800	Weak transcription	Adipose Nuclei	Adipose
11	chr5:42599000-42603800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:42600400-42603800	Weak transcription	Fetal Heart	heart
13	chr5:42600800-42603800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:42600800-42603800	Weak transcription	Placenta	Placenta
15	chr5:42600800-42603800	Weak transcription	Psoas Muscle	Psoas
16	chr5:42601000-42603800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:42601200-42602400	Weak transcription	Liver	Liver
18	chr5:42601200-42612800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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