Variant report

Variant	rs7137730
Chromosome Location	chr12:22039180-22039181
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10743426	0.83[GIH][hapmap]
rs10770871	0.81[GIH][hapmap]
rs12304313	0.83[JPT][hapmap];0.93[YRI][hapmap];0.81[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[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2277405	0.81[GIH][hapmap]
rs2292772	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]
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]
rs704215	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs704217	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7138546	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7301876	0.83[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7308718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv898899	chr12:22024093-22044210	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7137730	ABCC9	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22024800-22044000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:22024800-22044800	Weak transcription	Aorta	Aorta
3	chr12:22027000-22041000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:22027600-22046200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:22029400-22040800	Weak transcription	Fetal Lung	lung
6	chr12:22030600-22044800	Weak transcription	Right Ventricle	heart
7	chr12:22031600-22039400	Enhancers	Liver	Liver
8	chr12:22035200-22044400	Weak transcription	Adipose Nuclei	Adipose
9	chr12:22035200-22044800	Weak transcription	Psoas Muscle	Psoas
10	chr12:22035200-22058600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:22035200-22092200	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:22035400-22040800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:22035400-22041200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:22036200-22039600	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:22036200-22041000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:22036200-22041200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:22036400-22044800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:22036400-22044800	Weak transcription	Right Atrium	heart
19	chr12:22038000-22044000	Weak transcription	Fetal Stomach	stomach
20	chr12:22038400-22040200	Strong transcription	Left Ventricle	heart
21	chr12:22038400-22044600	Weak transcription	Fetal Heart	heart
22	chr12:22038600-22039800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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