Variant report

Variant	rs1521950
Chromosome Location	chr2:53669466-53669467
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11125496	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11674306	0.80[AMR][1000 genomes]
rs11680345	0.81[AMR][1000 genomes]
rs11886009	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11891803	0.81[ASN][1000 genomes]
rs12465172	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12477071	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12477543	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12999083	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13025722	0.81[ASN][1000 genomes]
rs13411752	0.80[ASN][1000 genomes]
rs1389572	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1402899	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1521932	0.85[CEU][hapmap];0.81[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes]
rs1521936	0.88[ASN][1000 genomes]
rs1521947	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1521949	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4330141	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4566397	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4672418	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4672419	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4672420	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60013509	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs66734139	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6718796	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6719172	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6748128	0.84[CEU][hapmap];0.87[CHB][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6748135	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs909051	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002145	chr2:53387912-53832213	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv535718	chr2:53387912-53832213	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv997401	chr2:53515629-53863347	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3383918	chr2:53585059-53710179	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv984438	chr2:53649278-53685651	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53665600-53672800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:53665800-53672800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:53666000-53671400	Weak transcription	Hela-S3	cervix
4	chr2:53667800-53675000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:53668800-53669600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:53668800-53670000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:53669000-53670000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:53669000-53670600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:53669200-53670000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:53669400-53670000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:53669400-53670000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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