Variant report

Variant	rs2224484
Chromosome Location	chr6:23631868-23631869
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1742790	0.86[ASN][1000 genomes]
rs34711657	0.81[ASN][1000 genomes]
rs4389758	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7745468	0.92[ASN][1000 genomes]
rs7762475	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9348578	0.81[ASN][1000 genomes]
rs9358642	0.97[ASN][1000 genomes]
rs9379524	0.81[ASN][1000 genomes]
rs9379530	0.82[ASN][1000 genomes]
rs9393424	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029930	chr6:23481989-24289948	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv830608	chr6:23558655-23644405	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv883478	chr6:23615399-23659465	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv462656	chr6:23629281-23721032	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv601125	chr6:23629281-23721032	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2224484	HIST1H1A	cis	parietal	SCAN
rs2224484	BTN3A1	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23630200-23633000	Enhancers	Fetal Brain Male	brain
2	chr6:23630200-23634000	Weak transcription	Brain Germinal Matrix	brain
3	chr6:23631800-23632800	Weak transcription	Fetal Kidney	kidney

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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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