Variant report

Variant	rs8130732
Chromosome Location	chr21:41523507-41523508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1011765	0.89[CEU][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.96[EUR][1000 genomes]
rs10211913	0.80[EUR][1000 genomes]
rs11911749	0.89[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13046032	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13046959	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1474492	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2837451	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.84[JPT][hapmap];0.85[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2837457	0.84[YRI][hapmap]
rs4816674	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62237641	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8132673	0.88[CEU][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9978731	0.94[EUR][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	esv3437178	chr21:41519182-41523880	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8130732	C2CD2	cis	cerebellum	SCAN
rs8130732	B3GALT5	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41505000-41526400	Weak transcription	Fetal Muscle Leg	muscle
2	chr21:41510800-41525800	Weak transcription	Brain Germinal Matrix	brain
3	chr21:41513400-41524400	Weak transcription	Fetal Brain Female	brain
4	chr21:41517200-41528800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr21:41522800-41524600	Enhancers	Fetal Heart	heart
6	chr21:41523200-41523600	Enhancers	Fetal Stomach	stomach
7	chr21:41523200-41525400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr21:41523200-41525800	Enhancers	Cortex derived primary cultured neurospheres	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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