Variant report

Variant	rs554795
Chromosome Location	chr1:57563074-57563075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11206964	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12060287	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12133813	1.00[CHB][hapmap]
rs1359735	0.91[MKK][hapmap];0.88[YRI][hapmap]
rs1394396	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs149766	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs197612	1.00[CHB][hapmap]
rs504971	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510230	1.00[ASN][1000 genomes]
rs524780	1.00[ASN][1000 genomes]
rs534569	1.00[CHB][hapmap]
rs537159	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428752	chr1:57455083-57605082	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	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
4	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57548800-57566600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:57549600-57566600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:57551400-57622000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:57556800-57568800	Weak transcription	Right Atrium	heart
5	chr1:57558000-57564800	Weak transcription	Fetal Intestine Large	intestine
6	chr1:57559000-57568600	Weak transcription	Left Ventricle	heart
7	chr1:57562200-57567000	Weak transcription	Fetal Heart	heart
8	chr1:57562400-57567000	Weak transcription	Fetal Brain Female	brain
9	chr1:57562800-57565600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:57563000-57563200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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