Variant report

Variant	rs1421981
Chromosome Location	chr5:167317571-167317572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10866614	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10866615	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11134476	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11134477	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11134478	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11134479	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11738159	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12517071	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs13172139	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1363203	0.82[EUR][1000 genomes]
rs1421980	0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1421985	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1421987	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1421988	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1477284	0.84[CEU][hapmap];0.86[CHB][hapmap]
rs17512980	0.85[CEU][hapmap];0.81[CHB][hapmap]
rs17526010	0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1833563	0.92[ASN][1000 genomes]
rs2193981	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28547994	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2909798	0.80[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs58669315	0.91[ASN][1000 genomes]
rs6875425	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs7378687	0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7379874	0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7449290	0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462511	chr5:167275087-167324809	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
2	nsv600254	chr5:167275087-167324809	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
3	nsv830546	chr5:167303135-167456271	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167266600-167326200	Weak transcription	HMEC	breast
2	chr5:167285600-167325600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:167305800-167323600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:167306400-167326600	Weak transcription	HSMM	muscle
5	chr5:167310600-167317600	Weak transcription	NHEK	skin
6	chr5:167310600-167323000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:167312600-167325400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:167316200-167317800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:167316600-167317600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:167316800-167318400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:167316800-167325000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:167317000-167324800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:167317000-167325000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:167317000-167325400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:167317200-167322800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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