Variant report

Variant	rs7310569
Chromosome Location	chr12:21705814-21705815
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11046109	1.00[CEU][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs11046127	1.00[JPT][hapmap]
rs11612897	0.97[EUR][1000 genomes]
rs12372504	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap]
rs2306178	0.92[CEU][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs3765089	0.98[EUR][1000 genomes]
rs7137323	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes]
rs7137552	1.00[JPT][hapmap]
rs7137769	1.00[JPT][hapmap]
rs73085365	0.93[AFR][1000 genomes]
rs7962379	1.00[JPT][hapmap]
rs7974959	1.00[JPT][hapmap]
rs7977648	1.00[JPT][hapmap];0.83[AFR][1000 genomes]
rs9783464	0.93[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	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
3	nsv1036084	chr12:21631009-21792756	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv898897	chr12:21680363-21781141	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv469164	chr12:21688900-21966701	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv557744	chr12:21688900-21966701	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1037727	chr12:21689358-21772274	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21700000-21707200	Weak transcription	Placenta	Placenta
2	chr12:21704400-21706000	Enhancers	Fetal Heart	heart
3	chr12:21704400-21706200	Enhancers	HSMM	muscle
4	chr12:21704600-21706200	Enhancers	Fetal Stomach	stomach
5	chr12:21704600-21706600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr12:21704600-21706800	Enhancers	HSMMtube	muscle
7	chr12:21704800-21708000	Enhancers	Fetal Muscle Leg	muscle
8	chr12:21704800-21712200	Strong transcription	Liver	Liver
9	chr12:21705000-21707400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr12:21705200-21706000	Enhancers	Brain Angular Gyrus	brain
11	chr12:21705200-21706400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:21705200-21706400	Enhancers	Fetal Lung	lung
13	chr12:21705200-21706600	Enhancers	Brain Hippocampus Middle	brain
14	chr12:21705200-21715200	Weak transcription	Left Ventricle	heart
15	chr12:21705600-21706000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:21705800-21706600	Enhancers	Psoas Muscle	Psoas

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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