Variant report

Variant	rs2292772
Chromosome Location	chr12:22045771-22045772
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: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10743426	0.83[GIH][hapmap]
rs10770871	0.81[GIH][hapmap]
rs12304313	0.83[JPT][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1356369	0.89[YRI][hapmap]
rs1421602	0.81[GIH][hapmap]
rs2131136	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2277405	0.81[GIH][hapmap]
rs4148654	0.81[GIH][hapmap]
rs4148655	0.81[CEU][hapmap]
rs4148660	0.81[GIH][hapmap]
rs4148664	0.87[ASW][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.89[YRI][hapmap];0.84[AMR][1000 genomes]
rs4148665	0.85[YRI][hapmap]
rs59061211	0.83[ASN][1000 genomes]
rs704215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs704217	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7137730	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7138546	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7301876	0.83[JPT][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7308718	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[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	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
4	nsv898900	chr12:22044843-22083212	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2292772	ABCC9	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22027600-22046200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:22035200-22058600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:22035200-22092200	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:22041600-22050600	Weak transcription	Fetal Lung	lung
5	chr12:22044000-22045800	Flanking Active TSS	Liver	Liver
6	chr12:22044000-22047200	Enhancers	Rectal Smooth Muscle	rectum
7	chr12:22044400-22046000	Enhancers	Adipose Nuclei	Adipose
8	chr12:22044400-22046000	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr12:22044400-22048400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr12:22044600-22045800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:22044800-22049400	Enhancers	Colon Smooth Muscle	Colon
12	chr12:22045000-22046800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr12:22045000-22059200	Weak transcription	Left Ventricle	heart
14	chr12:22045200-22047800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:22045200-22053800	Weak transcription	Right Ventricle	heart
16	chr12:22045200-22058800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:22045400-22064800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:22045600-22046600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:22045600-22047000	Weak transcription	Psoas Muscle	Psoas
20	chr12:22045600-22047800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:22045600-22047800	Enhancers	Stomach Smooth Muscle	stomach
22	chr12:22045600-22049200	Weak transcription	Fetal Stomach	stomach
23	chr12:22045600-22053000	Weak transcription	Aorta	Aorta
24	chr12:22045600-22059200	Weak transcription	NHLF	lung
25	chr12:22045600-22064800	Weak transcription	Fetal Heart	heart

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