Variant report

Variant	rs6688430
Chromosome Location	chr1:150671444-150671445
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10788793	0.88[AFR][1000 genomes]
rs10788796	1.00[CEU][hapmap]
rs11204728	1.00[CEU][hapmap]
rs1241574	0.83[AMR][1000 genomes]
rs1241576	1.00[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1241580	1.00[AMR][1000 genomes]
rs1415146	1.00[CEU][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6587519	1.00[CEU][hapmap]
rs6587522	1.00[CEU][hapmap]
rs6587534	1.00[CEU][hapmap]
rs7515228	1.00[CEU][hapmap]
rs7518440	1.00[CEU][hapmap]
rs7518546	1.00[CEU][hapmap]
rs7526690	0.90[AFR][1000 genomes]
rs7533914	1.00[CEU][hapmap]
rs9436013	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv872417	chr1:150618632-150759979	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1014638	chr1:150647987-150679033	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv437158	chr1:150652202-150683512	Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv520425	chr1:150669952-150673684	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150670400-150675400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr1:150670600-150671600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr1:150670600-150675400	Weak transcription	GM12878-XiMat	blood
4	chr1:150670600-150677400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:150670600-150681200	Weak transcription	A549	lung
6	chr1:150670600-150681400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr1:150670600-150702600	Weak transcription	Hela-S3	cervix

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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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