Variant report

Variant	rs17252048
Chromosome Location	chr13:51758352-51758353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10492518	0.92[ASN][1000 genomes]
rs11842791	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12585772	0.84[ASN][1000 genomes]
rs1340547	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17837199	0.93[ASN][1000 genomes]
rs2408298	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61958522	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7987638	0.93[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9316529	0.90[ASN][1000 genomes]
rs9563034	0.90[ASN][1000 genomes]
rs9568543	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9568546	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[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	nsv832610	chr13:51636661-51822106	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv523778	chr13:51755107-51768501	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51750000-51763000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:51750200-51767000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:51754000-51766000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr13:51754600-51770000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:51755000-51765600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr13:51755200-51760400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr13:51756600-51763800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr13:51757200-51759800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr13:51757200-51760400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr13:51757400-51759000	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr13:51757400-51759800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr13:51757600-51758600	Strong transcription	ES-UCSF4 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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