Variant report

Variant	rs72853221
Chromosome Location	chr2:145528799-145528800
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11674685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11675927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11681525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11687464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11689575	0.97[EUR][1000 genomes]
rs11691685	0.88[EUR][1000 genomes]
rs67365209	1.00[EUR][1000 genomes]
rs6752912	0.84[EUR][1000 genomes]
rs6756405	0.84[EUR][1000 genomes]
rs67963154	0.81[EUR][1000 genomes]
rs72852150	0.84[EUR][1000 genomes]
rs72852164	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72852199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72853207	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72853210	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72853226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72853247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72853253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72853263	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv834397	chr2:145439528-145608628	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145525600-145535400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:145527400-145528800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:145527400-145528800	Enhancers	Fetal Intestine Large	intestine
4	chr2:145527400-145528800	Enhancers	Fetal Intestine Small	intestine
5	chr2:145527400-145529400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:145527600-145529400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:145527800-145532000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr2:145528000-145530400	Enhancers	Brain Germinal Matrix	brain
9	chr2:145528200-145529000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:145528400-145528800	Active TSS	Brain Angular Gyrus	brain
11	chr2:145528400-145528800	Active TSS	Brain Cingulate Gyrus	brain
12	chr2:145528400-145528800	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr2:145528400-145528800	Active TSS	Brain Substantia Nigra	brain
14	chr2:145528400-145529000	Active TSS	Brain Anterior Caudate	brain
15	chr2:145528400-145529200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:145528400-145529200	Active TSS	Brain Inferior Temporal Lobe	brain

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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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