Variant report

Variant	rs2446171
Chromosome Location	chr13:54516229-54516230
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1334214	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1334215	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1334216	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1334217	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483723	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2489059	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044137	chr13:54124103-54521120	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv541777	chr13:54124103-54521120	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv427931	chr13:54352943-54543848	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv900093	chr13:54414564-54594292	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv527523	chr13:54451650-54531287	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1040530	chr13:54493559-54534182	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
7	nsv900094	chr13:54506631-54543516	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54514000-54516400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:54515000-54516400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr13:54515000-54516400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr13:54515600-54516400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr13:54515800-54516600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:54516000-54516400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
7	chr13:54516000-54516600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr13:54516200-54516400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr13:54516200-54516400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr13:54516200-54516600	Enhancers	HUES6 Cell Line	embryonic stem cell

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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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