Variant report

Variant	rs6750787
Chromosome Location	chr2:171662128-171662129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10048650	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1420389	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1420390	0.84[AMR][1000 genomes]
rs1548903	0.81[AMR][1000 genomes]
rs2192987	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2883887	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34100397	1.00[EUR][1000 genomes]
rs45447099	1.00[EUR][1000 genomes]
rs4668323	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6721280	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6733154	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6749003	0.91[AFR][1000 genomes];1.00[AMR][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	esv1806894	chr2:171651783-171679041	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171642400-171669000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:171659200-171668600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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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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