Variant report

Variant	rs2553016
Chromosome Location	chr2:173760647-173760648
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1344590	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1469214	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1863174	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1968290	0.84[AMR][1000 genomes]
rs2194723	1.00[YRI][hapmap]
rs2553010	0.84[AMR][1000 genomes]
rs2553012	0.84[AMR][1000 genomes]
rs2553014	0.84[AMR][1000 genomes]
rs2553017	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2676514	0.82[AMR][1000 genomes]
rs2676519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2676527	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4541226	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4972866	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6754271	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7607344	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs933785	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr2:173756400-173760800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:173757400-173763200	Weak transcription	Left Ventricle	heart
3	chr2:173757600-173763400	Weak transcription	Right Atrium	heart
4	chr2:173758000-173761200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:173758400-173761200	Enhancers	Brain Germinal Matrix	brain
6	chr2:173758600-173763000	Weak transcription	Lung	lung
7	chr2:173758800-173760800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:173759000-173764400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:173759000-173770600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:173759200-173761200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:173760000-173764000	Weak transcription	Brain Substantia Nigra	brain
12	chr2:173760200-173761400	Weak transcription	Brain Anterior Caudate	brain
13	chr2:173760400-173761800	Bivalent Enhancer	Fetal Brain Male	brain
14	chr2:173760400-173762000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:173760400-173762200	Weak transcription	Adipose Nuclei	Adipose
16	chr2:173760600-173762000	Enhancers	Fetal Brain Female	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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