Variant report

No.	Distal block	Cell Line	Cell type
1	chr21:40274625..40276194-chr21:40279774..40282336,2	K562	blood:
2	chr21:40176606..40179033-chr21:40274640..40277312,2	K562	blood:
3	chr21:40184185..40186181-chr21:40274030..40276834,2	MCF-7	breast:
4	chr21:40274512..40276414-chr21:40289458..40290998,2	MCF-7	breast:
5	chr21:40273169..40275089-chr21:40277742..40279439,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs414845	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59086904	0.87[EUR][1000 genomes]
rs8127274	1.00[JPT][hapmap]
rs9979509	1.00[CHB][hapmap]

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	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv587478	chr21:40243459-40275033	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2836743	NCRNA00257	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40260000-40275200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:40270600-40278600	Weak transcription	Liver	Liver
3	chr21:40271600-40275200	Weak transcription	Hela-S3	cervix
4	chr21:40273600-40277800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr21:40273800-40284800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr21:40274400-40275200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr21:40274400-40275400	Enhancers	HMEC	breast
8	chr21:40274400-40275400	Enhancers	NHEK	skin
9	chr21:40274400-40276600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr21:40274600-40275200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr21:40274600-40275200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr21:40274800-40275600	Enhancers	Esophagus	oesophagus
13	chr21:40274800-40276400	Enhancers	Lung	lung
14	chr21:40274800-40276600	Enhancers	Aorta	Aorta
15	chr21:40274800-40276600	Enhancers	Fetal Muscle Leg	muscle
16	chr21:40274800-40276600	Enhancers	Placenta	Placenta
17	chr21:40274800-40276600	Enhancers	Fetal Thymus	thymus
18	chr21:40274800-40276600	Enhancers	Psoas Muscle	Psoas
19	chr21:40274800-40277000	Enhancers	Left Ventricle	heart
20	chr21:40275000-40275200	Flanking Active TSS	Fetal Heart	heart
21	chr21:40275000-40275200	Enhancers	Skeletal Muscle Female	skeletal muscle

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