Variant report

Variant	rs2823236
Chromosome Location	chr21:16715670-16715671
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:16714791..16715731-chr21:16816350..16817232,4	MCF-7	breast:
2	chr21:16714493..16715731-chr21:16816300..16817254,11	MCF-7	breast:
3	chr21:16580196..16583993-chr21:16711928..16716549,7	MCF-7	breast:
4	chr21:16582092..16583222-chr21:16714611..16715771,13	MCF-7	breast:
5	chr21:16713454..16716441-chr21:16762500..16764229,2	MCF-7	breast:
6	chr21:16714779..16715688-chr21:16816321..16817212,3	MCF-7	breast:
7	chr21:16582092..16583222-chr21:16714611..16715771,10	MCF-7	breast:
8	chr21:16715385..16717006-chr21:16736563..16738066,2	MCF-7	breast:

No data

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10211859	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16982064	0.94[YRI][hapmap]
rs17241270	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2049835	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2049882	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2091947	0.92[EUR][1000 genomes]
rs2823234	0.92[EUR][1000 genomes]
rs2823235	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823238	0.88[CEU][hapmap];0.89[CHB][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs2823239	0.86[EUR][1000 genomes]
rs2823242	0.97[EUR][1000 genomes]
rs2823244	0.83[EUR][1000 genomes]
rs28478640	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28530473	0.88[AFR][1000 genomes]
rs6517365	0.81[EUR][1000 genomes]
rs6517383	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7278751	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7279326	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7280494	0.88[CEU][hapmap];0.89[CHB][hapmap];0.86[EUR][1000 genomes]
rs7281880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128176	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9979199	0.86[AFR][1000 genomes]
rs9980544	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9981613	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9982882	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9982903	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9983155	0.92[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	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	nsv1064280	chr21:16664312-17049272	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1812556	chr21:16690063-16736368	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16714800-16715800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:16715000-16715800	Enhancers	HMEC	breast
3	chr21:16715200-16715800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr21:16715400-16715800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr21:16715400-16715800	Enhancers	Rectal Smooth Muscle	rectum
6	chr21:16715600-16716000	Enhancers	A549	lung

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