Variant report

Variant	rs1283817
Chromosome Location	chr12:21984970-21984971
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12825295	0.80[AMR][1000 genomes]
rs1283815	0.96[AFR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1283816	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1283822	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1299731	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1967534	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2098574	0.85[TSI][hapmap];0.83[AMR][1000 genomes]
rs2112080	0.82[TSI][hapmap];0.82[AMR][1000 genomes]
rs3782667	0.82[CEU][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes]
rs704175	0.88[CEU][hapmap];0.92[AMR][1000 genomes]
rs704176	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs704177	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs704178	0.83[AMR][1000 genomes]
rs704180	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes]
rs704182	0.90[CHB][hapmap];0.83[AMR][1000 genomes]
rs7966849	0.86[CHB][hapmap];0.90[CHD][hapmap];0.83[TSI][hapmap]
rs829068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829069	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs829072	0.82[AMR][1000 genomes]
rs829079	0.95[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829080	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs864360	0.83[AMR][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
rs1283817	ABCC9	cis	parietal	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21958400-22003000	Weak transcription	Psoas Muscle	Psoas
2	chr12:21973800-21994800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:21973800-22025400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:21980600-22002800	Weak transcription	Fetal Heart	heart
5	chr12:21981800-21991000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:21982000-21989200	Weak transcription	Left Ventricle	heart
7	chr12:21982000-21989400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:21983600-21985400	Enhancers	Fetal Stomach	stomach
9	chr12:21983600-21985400	Enhancers	Ovary	ovary
10	chr12:21983600-22002800	Strong transcription	Liver	Liver
11	chr12:21983800-22002000	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:21983800-22003000	Weak transcription	Pancreas	Pancrea
13	chr12:21984200-21985400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:21984200-21985400	Enhancers	NHLF	lung
15	chr12:21984200-21985600	Enhancers	Adipose Nuclei	Adipose
16	chr12:21984200-21985600	Enhancers	Fetal Lung	lung
17	chr12:21984400-21985000	Enhancers	Right Ventricle	heart
18	chr12:21984400-21985200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:21984400-21985200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:21984400-21985200	Enhancers	Rectal Smooth Muscle	rectum
21	chr12:21984400-21985400	Enhancers	NHDF-Ad	bronchial
22	chr12:21984400-21985600	Enhancers	Osteobl	bone
23	chr12:21984600-21985800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr12:21984800-21985000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:21984800-21985000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:21984800-21985400	Enhancers	Stomach Smooth Muscle	stomach
27	chr12:21984800-21985800	Enhancers	Colon Smooth Muscle	Colon
28	chr12:21984800-21988400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:21984800-21991400	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:21984800-21994200	Weak transcription	Fetal Kidney	kidney
31	chr12:21984800-21995000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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