Variant report

Variant	rs2250954
Chromosome Location	chr8:130400697-130400698
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2568406	0.94[CEU][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs2568409	0.94[CEU][hapmap];0.86[GIH][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs2568411	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs2568414	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs2579861	0.83[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs2579868	0.81[EUR][1000 genomes]
rs2630520	0.84[CEU][hapmap]
rs2630521	0.84[CEU][hapmap]
rs2719207	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7006807	0.94[CEU][hapmap];0.89[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429942	chr8:130397818-130460011	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 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	chr8:130394600-130401000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:130394800-130411800	Strong transcription	K562	blood
3	chr8:130397800-130401000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:130398200-130401200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr8:130400600-130400800	Flanking Active TSS	Fetal Thymus	thymus
6	chr8:130400600-130400800	Genic enhancers	Dnd41	blood
7	chr8:130400600-130401400	Enhancers	Fetal Muscle Trunk	muscle
8	chr8:130400600-130401400	Enhancers	Right Atrium	heart
9	chr8:130400600-130401600	Enhancers	Fetal Muscle Leg	muscle
10	chr8:130400600-130401600	Enhancers	Thymus	Thymus
11	chr8:130400600-130402000	Enhancers	Brain Hippocampus Middle	brain
12	chr8:130400600-130403200	Enhancers	Brain Germinal Matrix	brain

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Input of quick search could be:

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

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