Variant report

Variant	rs7564216
Chromosome Location	chr2:235038239-235038240
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59046407	1.00[AMR][1000 genomes]
rs7559652	0.94[ASN][1000 genomes]
rs7579193	1.00[AMR][1000 genomes]
rs7606683	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	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
3	nsv834571	chr2:234929288-235110332	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv998149	chr2:234978261-235086951	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:235025000-235040000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:235032800-235040200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:235034800-235039400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:235035000-235039400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:235035600-235039600	Weak transcription	Brain Germinal Matrix	brain
6	chr2:235036000-235043800	Weak transcription	Fetal Brain Male	brain
7	chr2:235037400-235038800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:235037600-235041800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:235037600-235043800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr2:235038000-235038600	Enhancers	NHEK	skin
11	chr2:235038200-235038400	Enhancers	HMEC	breast
12	chr2:235038200-235039400	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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