Variant report

Variant	rs7958833
Chromosome Location	chr12:22023196-22023197
allele	G/T
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:11)

rs_ID	r²[population]
rs10841904	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1283798	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1283802	0.81[ASN][1000 genomes]
rs1356368	0.82[ASN][1000 genomes]
rs1356369	0.81[ASN][1000 genomes]
rs4148665	0.83[ASN][1000 genomes]
rs4148667	0.83[ASN][1000 genomes]
rs697252	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs704193	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs704194	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs829066	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[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	esv1847099	chr12:22003544-22035425	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21973800-22025400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:21995600-22034800	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:22003400-22026600	Weak transcription	Psoas Muscle	Psoas
4	chr12:22012200-22026400	Weak transcription	Fetal Heart	heart
5	chr12:22014800-22034800	Weak transcription	Ovary	ovary
6	chr12:22015800-22023200	Weak transcription	Left Ventricle	heart
7	chr12:22016000-22023200	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:22022200-22024000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:22022200-22026200	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:22022400-22023400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
11	chr12:22022400-22025000	Strong transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:22022400-22028600	Strong transcription	Liver	Liver
13	chr12:22022600-22023600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr12:22023000-22024000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:22023000-22026600	Weak transcription	Adipose Nuclei	Adipose

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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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