Variant report

Variant	rs6540621
Chromosome Location	chr1:210904810-210904811
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11119591	1.00[CHB][hapmap]
rs11119592	1.00[CHB][hapmap]
rs1122901	1.00[CHB][hapmap]
rs12117136	1.00[CHB][hapmap]
rs12133838	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12137464	1.00[CHB][hapmap]
rs12139273	1.00[CHB][hapmap]
rs12139474	1.00[CHB][hapmap]
rs12143524	1.00[CHB][hapmap]
rs1340125	1.00[CHB][hapmap]
rs1934613	1.00[CHB][hapmap]
rs2185384	1.00[CHB][hapmap]
rs4951462	1.00[CHB][hapmap]
rs60406489	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73067497	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73069504	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73069505	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7519357	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv873153	chr1:210900481-210994339	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210871200-210932000	Weak transcription	HSMM	muscle
2	chr1:210901600-210908200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:210902400-210907600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:210903800-210919200	Weak transcription	HSMMtube	muscle
5	chr1:210904200-210905400	Enhancers	Primary hematopoietic stem cells short term culture	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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