Variant report

Variant	rs704194
Chromosome Location	chr12:22016403-22016404
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10841904	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1283798	0.81[JPT][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1356368	0.81[JPT][hapmap]
rs4148665	0.81[JPT][hapmap]
rs4148667	0.81[JPT][hapmap]
rs697252	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs704193	0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7958833	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs829066	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv2109102	chr12:22016029-22016449	Weak transcription Strong transcription	Chromatin interactive region	n/a	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	chr12:22003400-22026600	Weak transcription	Psoas Muscle	Psoas
7	chr12:22003600-22022400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:22007800-22022200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:22008600-22017800	Strong transcription	Liver	Liver
10	chr12:22012200-22026400	Weak transcription	Fetal Heart	heart
11	chr12:22014200-22020800	Weak transcription	Fetal Lung	lung
12	chr12:22014800-22034800	Weak transcription	Ovary	ovary
13	chr12:22015200-22022200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:22015800-22022200	Weak transcription	Adipose Nuclei	Adipose
15	chr12:22015800-22023200	Weak transcription	Left Ventricle	heart
16	chr12:22016000-22022400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:22016000-22023200	Weak transcription	Fetal Muscle Leg	muscle

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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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