Variant report

Variant	rs11563220
Chromosome Location	chr2:234835170-234835171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10432393	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs10490015	0.93[CHB][hapmap];0.85[GIH][hapmap];1.00[EUR][1000 genomes]
rs11563061	0.80[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs11563217	0.93[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs11563219	1.00[ASW][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28901602	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28901604	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28901605	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28901607	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28901609	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28901620	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs28901644	0.93[CHB][hapmap];1.00[EUR][1000 genomes]
rs28901648	0.93[CHB][hapmap];1.00[EUR][1000 genomes]
rs28902176	0.93[CHB][hapmap];1.00[EUR][1000 genomes]
rs28902188	1.00[EUR][1000 genomes]
rs28902474	0.90[AMR][1000 genomes]
rs4663341	0.90[GIH][hapmap]
rs7564831	1.00[ASW][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.80[AMR][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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234834400-234838000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:234834800-234835200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:234834800-234837200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:234835000-234836200	Enhancers	HMEC	breast
5	chr2:234835000-234836400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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