Variant report

Variant	rs2630520
Chromosome Location	chr8:130402414-130402415
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2250954	0.84[CEU][hapmap]
rs2568406	0.83[GIH][hapmap];0.87[JPT][hapmap];0.81[MEX][hapmap]
rs2568409	0.87[JPT][hapmap]
rs2568411	0.87[JPT][hapmap]
rs2568414	0.87[JPT][hapmap]
rs2579861	0.80[GIH][hapmap];0.87[JPT][hapmap];0.81[MEX][hapmap]
rs2630521	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2719205	0.90[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs2719207	0.84[CEU][hapmap];0.87[JPT][hapmap]
rs2719210	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs976437	0.95[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]

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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130394800-130411800	Strong transcription	K562	blood
2	chr8:130400600-130403200	Enhancers	Brain Germinal Matrix	brain
3	chr8:130401400-130402600	Enhancers	Dnd41	blood
4	chr8:130401800-130402800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:130401800-130405600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr8:130401800-130405800	Weak transcription	Primary monocytes fromperipheralblood	blood

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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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