Variant report

Variant	rs1394396
Chromosome Location	chr1:57753150-57753151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12060287	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12401405	1.00[ASN][1000 genomes]
rs12410761	1.00[ASN][1000 genomes]
rs149766	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17460074	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs197612	1.00[CHB][hapmap]
rs504971	1.00[ASN][1000 genomes]
rs510230	1.00[ASN][1000 genomes]
rs524780	1.00[ASN][1000 genomes]
rs534569	1.00[CHB][hapmap]
rs537159	1.00[ASN][1000 genomes]
rs554795	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs60311519	1.00[ASN][1000 genomes]
rs6587766	1.00[CEU][hapmap]
rs72676921	1.00[ASN][1000 genomes]

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	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

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57742200-57755400	Weak transcription	Fetal Brain Male	brain
2	chr1:57747600-57769400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:57748400-57755200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:57751600-57765600	Weak transcription	Fetal Intestine Small	intestine
5	chr1:57751600-57770600	Weak transcription	Fetal Intestine Large	intestine
6	chr1:57753000-57759400	Weak transcription	H1 BMP4 Derived Mesendoderm 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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