Variant report

No.	Distal block	Cell Line	Cell type
1	chr21:16534393..16538479-chr21:16576836..16579884,4	MCF-7	breast:
2	chr21:16434158..16440207-chr21:16535498..16546791,27	MCF-7	breast:
3	chr21:16525668..16528510-chr21:16537323..16540174,2	MCF-7	breast:
4	chr21:16537078..16539945-chr21:16540563..16542447,2	MCF-7	breast:
5	chr21:16437341..16439300-chr21:16535726..16538232,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236471	Chromatin interaction
ENSG00000180530	Chromatin interaction

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

rs_ID	r²[population]
rs1009576	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11908720	0.95[EUR][1000 genomes]
rs2223128	0.95[JPT][hapmap];0.89[YRI][hapmap]
rs2254223	0.88[EUR][1000 genomes]
rs2823103	0.91[EUR][1000 genomes]
rs2823104	0.92[EUR][1000 genomes]
rs2823105	0.91[EUR][1000 genomes]
rs2823114	0.91[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2823118	0.95[JPT][hapmap]
rs2823121	0.86[JPT][hapmap]
rs58228216	0.95[EUR][1000 genomes]
rs59210723	0.94[EUR][1000 genomes]
rs59949852	0.93[EUR][1000 genomes]
rs7275196	0.86[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes]
rs7279147	0.92[EUR][1000 genomes]
rs7279893	0.91[JPT][hapmap]
rs7282135	0.81[ASN][1000 genomes]
rs965098	0.86[JPT][hapmap]
rs9974170	0.92[EUR][1000 genomes]
rs9974193	0.87[JPT][hapmap];0.89[YRI][hapmap]
rs9976384	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][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	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv913413	chr21:16537728-16621859	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16536600-16537800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:16536600-16538000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr21:16536600-16538400	Enhancers	HepG2	liver
4	chr21:16536800-16537800	Enhancers	Fetal Heart	heart
5	chr21:16536800-16537800	Enhancers	Hela-S3	cervix
6	chr21:16536800-16538000	Enhancers	HMEC	breast
7	chr21:16537200-16537800	Enhancers	Fetal Intestine Large	intestine
8	chr21:16537400-16538000	Enhancers	Fetal Intestine Small	intestine
9	chr21:16537400-16546000	Weak transcription	Pancreas	Pancrea

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