Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42603611..42606081-chr5:42608132..42609694,2	K562	blood:

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10941581	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11954102	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35227546	1.00[ASN][1000 genomes]
rs35703418	0.85[EUR][1000 genomes]
rs4283797	1.00[ASN][1000 genomes]
rs4330467	1.00[ASN][1000 genomes]
rs59463904	1.00[ASN][1000 genomes]
rs6870809	1.00[ASN][1000 genomes]
rs6887528	1.00[ASN][1000 genomes]
rs72753092	1.00[AFR][1000 genomes]
rs72754916	1.00[AFR][1000 genomes]
rs72754922	1.00[ASN][1000 genomes]
rs72754935	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754950	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73087462	1.00[ASN][1000 genomes]
rs7700564	1.00[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:20 , 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	chr5:42598600-42604200	Weak transcription	Right Ventricle	heart
5	chr5:42598600-42605800	Weak transcription	Right Atrium	heart
6	chr5:42601200-42612800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:42602400-42605800	Enhancers	Liver	Liver
8	chr5:42603200-42607200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr5:42603400-42604600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:42603800-42604200	Enhancers	Placenta	Placenta
11	chr5:42603800-42604200	Enhancers	Left Ventricle	heart
12	chr5:42603800-42604400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:42603800-42604400	Enhancers	Esophagus	oesophagus
14	chr5:42603800-42604600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr5:42603800-42604600	Enhancers	Colon Smooth Muscle	Colon
16	chr5:42603800-42604600	Enhancers	Psoas Muscle	Psoas
17	chr5:42603800-42604800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr5:42603800-42605000	Enhancers	Fetal Heart	heart
19	chr5:42603800-42606800	Enhancers	Adipose Nuclei	Adipose
20	chr5:42603800-42606800	Enhancers	Skeletal Muscle Male	skeletal muscle

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