Variant report

Variant	rs1487666
Chromosome Location	chr12:24871963-24871964
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:24861637..24863500-chr12:24870695..24873251,2	K562	blood:
2	chr12:24864914..24867298-chr12:24870842..24873469,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10743516	0.96[EUR][1000 genomes]
rs10771118	0.87[EUR][1000 genomes]
rs11047587	1.00[EUR][1000 genomes]
rs1154753	0.96[EUR][1000 genomes]
rs1155525	1.00[EUR][1000 genomes]
rs1386644	0.96[EUR][1000 genomes]
rs1466585	1.00[EUR][1000 genomes]
rs1466586	1.00[EUR][1000 genomes]
rs1466587	1.00[EUR][1000 genomes]
rs1466589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1487665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565121	0.96[EUR][1000 genomes]
rs1601765	0.96[EUR][1000 genomes]
rs16927854	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs16927859	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1872648	1.00[EUR][1000 genomes]
rs1982780	0.87[EUR][1000 genomes]
rs1994434	0.83[EUR][1000 genomes]
rs2029169	0.87[EUR][1000 genomes]
rs2101371	0.96[EUR][1000 genomes]
rs2200510	0.87[EUR][1000 genomes]
rs4963588	0.96[EUR][1000 genomes]
rs4963786	0.96[EUR][1000 genomes]
rs56757641	0.90[ASN][1000 genomes]
rs60655396	0.90[ASN][1000 genomes]
rs6487413	0.87[EUR][1000 genomes]
rs7306537	0.92[EUR][1000 genomes]
rs7965973	0.87[EUR][1000 genomes]
rs7970094	0.87[EUR][1000 genomes]
rs901710	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422312	chr12:24519392-25221686	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1046463	chr12:24538432-24916851	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv898920	chr12:24648863-25147192	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv915555	chr12:24666481-24952013	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv469169	chr12:24692383-25357680	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv557775	chr12:24692383-25357680	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv932477	chr12:24705151-25346677	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv1053309	chr12:24770995-25078227	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS 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	11 gene(s)	inside rSNPs	diseases
9	nsv1067577	chr12:24791283-25346677	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv529514	chr12:24791283-25346677	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:24869400-24873200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:24870600-24872800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:24871000-24872800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:24871400-24873000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:24871400-24873000	Enhancers	GM12878-XiMat	blood
6	chr12:24871400-24873200	Enhancers	NHEK	skin
7	chr12:24871400-24873400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:24871600-24873000	Enhancers	Dnd41	blood
9	chr12:24871600-24874800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:24871800-24872600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:24871800-24872600	Enhancers	Primary B cells from peripheral blood	blood
12	chr12:24871800-24872600	Enhancers	Fetal Brain Male	brain
13	chr12:24871800-24872800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:24871800-24873000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:24871800-24873000	Enhancers	HSMM	muscle
16	chr12:24871800-24873200	Enhancers	HMEC	breast

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