Variant report

Variant	rs12579854
Chromosome Location	chr12:120039935-120039936
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120030192..120033081-chr12:120038466..120040373,2	K562	blood:

Variant related genes	Relation type
ENSG00000248636	Chromatin interaction
ENSG00000224982	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10744740	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10744741	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10744742	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10774504	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10774505	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10849673	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10849674	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10849679	0.87[ASN][1000 genomes]
rs10849682	0.82[ASN][1000 genomes]
rs10849683	0.81[ASN][1000 genomes]
rs11064843	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11064855	0.81[ASN][1000 genomes]
rs1109856	0.97[ASN][1000 genomes]
rs12582735	0.96[ASN][1000 genomes]
rs12708371	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12827937	0.86[ASN][1000 genomes]
rs1303904	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1476453	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2015795	0.96[ASN][1000 genomes]
rs2157806	0.86[ASN][1000 genomes]
rs2893796	0.86[ASN][1000 genomes]
rs3847956	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767830	0.96[ASN][1000 genomes]
rs4767831	0.95[ASN][1000 genomes]
rs4767832	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767833	0.87[ASN][1000 genomes]
rs7295362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306273	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7310741	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7316295	0.81[ASN][1000 genomes]
rs739423	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7954674	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955433	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7957284	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7965791	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7978341	0.86[ASN][1000 genomes]
rs7981024	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916688	chr12:119801814-120044407	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv832529	chr12:119863378-120071646	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120034600-120048200	Weak transcription	HSMMtube	muscle
2	chr12:120036600-120046000	Weak transcription	HSMM	muscle
3	chr12:120036600-120049000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:120039400-120040200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:120039600-120040200	Enhancers	K562	blood
6	chr12:120039600-120040400	Genic enhancers	Psoas Muscle	Psoas
7	chr12:120039800-120040200	Enhancers	Gastric	stomach
8	chr12:120039800-120040200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr12:120039800-120040200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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