Variant report

Variant	rs2676519
Chromosome Location	chr2:173756051-173756052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1344590	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1469214	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1863174	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1968290	0.84[AMR][1000 genomes]
rs2553010	0.84[AMR][1000 genomes]
rs2553012	0.84[AMR][1000 genomes]
rs2553014	0.84[AMR][1000 genomes]
rs2553016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2553017	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2676514	0.82[AMR][1000 genomes]
rs2676527	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4541226	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4972866	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6754271	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7607344	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs933785	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173743000-173756400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:173750800-173756200	Weak transcription	Lung	lung
3	chr2:173752200-173756400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:173753200-173757600	Enhancers	Fetal Heart	heart
5	chr2:173754200-173758000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:173754400-173759400	Weak transcription	Brain Angular Gyrus	brain
7	chr2:173754800-173758600	Weak transcription	Brain Anterior Caudate	brain
8	chr2:173755000-173758800	Weak transcription	Adipose Nuclei	Adipose
9	chr2:173755200-173756800	Weak transcription	Right Atrium	heart
10	chr2:173755200-173757200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:173755200-173757200	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:173755200-173758800	Weak transcription	Fetal Thymus	thymus
13	chr2:173755400-173756800	Weak transcription	Left Ventricle	heart
14	chr2:173755600-173757000	Weak transcription	Right Ventricle	heart

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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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