Variant report

Variant	rs704212
Chromosome Location	chr12:22044344-22044345
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	chr12:22044149..22046273-chr12:22050074..22052072,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10841907	0.88[ASW][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.84[TSI][hapmap]
rs11046234	0.88[ASW][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.87[TSI][hapmap]
rs1283802	0.94[CEU][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs1283807	0.94[CEU][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1352909	0.94[CEU][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1356368	0.89[CEU][hapmap]
rs1356369	0.89[CEU][hapmap]
rs4148649	0.81[GIH][hapmap];0.83[JPT][hapmap];0.87[TSI][hapmap]
rs4148665	0.89[CEU][hapmap];0.84[MEX][hapmap]
rs4148667	0.83[CEU][hapmap]
rs704206	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs704208	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs704209	0.94[CEU][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs704210	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs704211	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]

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	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv470275	chr12:21938544-22126314	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs704212	SOX5	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22024800-22044800	Weak transcription	Aorta	Aorta
2	chr12:22027600-22046200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:22030600-22044800	Weak transcription	Right Ventricle	heart
4	chr12:22035200-22044400	Weak transcription	Adipose Nuclei	Adipose
5	chr12:22035200-22044800	Weak transcription	Psoas Muscle	Psoas
6	chr12:22035200-22058600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:22035200-22092200	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:22036400-22044800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:22036400-22044800	Weak transcription	Right Atrium	heart
10	chr12:22038400-22044600	Weak transcription	Fetal Heart	heart
11	chr12:22041600-22044400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:22041600-22044400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:22041600-22050600	Weak transcription	Fetal Lung	lung
14	chr12:22041800-22044600	Weak transcription	Left Ventricle	heart
15	chr12:22044000-22044400	Enhancers	Colon Smooth Muscle	Colon
16	chr12:22044000-22044400	Enhancers	Stomach Smooth Muscle	stomach
17	chr12:22044000-22045200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr12:22044000-22045600	Enhancers	Fetal Stomach	stomach
19	chr12:22044000-22045800	Flanking Active TSS	Liver	Liver
20	chr12:22044000-22047200	Enhancers	Rectal Smooth Muscle	rectum
21	chr12:22044200-22044600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:22044200-22044800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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