Variant report

Variant	rs267648
Chromosome Location	chr1:57793455-57793456
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1240441	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1646766	1.00[AMR][1000 genomes]
rs267649	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs267652	0.87[AFR][1000 genomes]
rs269040	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs269046	1.00[AMR][1000 genomes]
rs269052	1.00[AMR][1000 genomes]
rs681946	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv871943	chr1:57784144-57855876	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr1:57785200-57793800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:57787200-57793800	Weak transcription	Fetal Brain Male	brain
3	chr1:57791200-57794200	Enhancers	Stomach Smooth Muscle	stomach
4	chr1:57791200-57798600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:57792400-57806200	Weak transcription	Fetal Intestine Small	intestine
6	chr1:57792800-57794200	Enhancers	Fetal Brain Female	brain
7	chr1:57793400-57793800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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