Variant report

Variant	rs6487248
Chromosome Location	chr12:22008398-22008399
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11835653	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11836934	1.00[EUR][1000 genomes]
rs55792915	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55849264	1.00[EUR][1000 genomes]
rs56177329	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59406438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61926066	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61926067	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61926068	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61926069	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61926070	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61926071	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61926072	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61926075	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61926076	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61928477	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73076354	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73076368	0.85[AMR][1000 genomes];1.00[EUR][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:17 , 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	chr12:21995600-22022200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:21995600-22034800	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:21995800-22022600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:21997600-22016600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:21999200-22015400	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:22001400-22011400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:22003400-22008600	Weak transcription	Pancreas	Pancrea
9	chr12:22003400-22014200	Weak transcription	Left Ventricle	heart
10	chr12:22003400-22015800	Weak transcription	Right Ventricle	heart
11	chr12:22003400-22026600	Weak transcription	Psoas Muscle	Psoas
12	chr12:22003600-22014600	Weak transcription	Adipose Nuclei	Adipose
13	chr12:22003600-22022400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:22004000-22010400	Weak transcription	Fetal Heart	heart
15	chr12:22007000-22008600	Weak transcription	Liver	Liver
16	chr12:22007000-22009800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:22007800-22022200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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