Variant report

Variant	rs12347060
Chromosome Location	chr9:7906933-7906934
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16926844	0.85[EUR][1000 genomes]
rs16926845	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66628241	0.83[EUR][1000 genomes]
rs67223242	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67767215	0.87[EUR][1000 genomes]
rs72699881	0.87[EUR][1000 genomes]
rs72699887	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72699900	0.94[EUR][1000 genomes];1.00[ASN][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	nsv1033077	chr9:7358832-7990735	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539977	chr9:7358832-7990735	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv995116	chr9:7682729-8065192	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv8414	chr9:7827373-8511613	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv973468	chr9:7871815-7950706	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1024456	chr9:7887727-8157591	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv539979	chr9:7887727-8157591	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7902400-7907400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr9:7902400-7908000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:7905200-7908400	Enhancers	Fetal Thymus	thymus
4	chr9:7906000-7908800	Enhancers	Brain Cingulate Gyrus	brain
5	chr9:7906200-7907000	Weak transcription	Brain Hippocampus Middle	brain
6	chr9:7906200-7907000	Weak transcription	Brain Substantia Nigra	brain
7	chr9:7906600-7907200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr9:7906600-7907800	Enhancers	Fetal Muscle Leg	muscle
9	chr9:7906800-7907800	Enhancers	Brain Angular Gyrus	brain
10	chr9:7906800-7907800	Enhancers	Fetal Lung	lung
11	chr9:7906800-7908400	Enhancers	NH-A	brain
12	chr9:7906800-7908600	Enhancers	Brain Anterior Caudate	brain
13	chr9:7906800-7908600	Enhancers	Thymus	Thymus

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Input of quick search could be:

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

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