Variant report

Variant	rs55849264
Chromosome Location	chr12:21998012-21998013
allele	C/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:19)

rs_ID	r²[population]
rs11835653	1.00[EUR][1000 genomes]
rs11836934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12367996	0.87[AFR][1000 genomes]
rs55792915	1.00[EUR][1000 genomes]
rs56177329	1.00[EUR][1000 genomes]
rs59406438	1.00[EUR][1000 genomes]
rs61926066	1.00[EUR][1000 genomes]
rs61926067	1.00[EUR][1000 genomes]
rs61926068	1.00[EUR][1000 genomes]
rs61926069	1.00[EUR][1000 genomes]
rs61926070	1.00[EUR][1000 genomes]
rs61926071	1.00[EUR][1000 genomes]
rs61926072	1.00[EUR][1000 genomes]
rs61926075	1.00[EUR][1000 genomes]
rs61926076	1.00[EUR][1000 genomes]
rs61928477	1.00[EUR][1000 genomes]
rs6487248	1.00[EUR][1000 genomes]
rs73076354	1.00[EUR][1000 genomes]
rs73076368	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21958400-22003000	Weak transcription	Psoas Muscle	Psoas
2	chr12:21973800-22025400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:21980600-22002800	Weak transcription	Fetal Heart	heart
4	chr12:21983600-22002800	Strong transcription	Liver	Liver
5	chr12:21983800-22002000	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:21983800-22003000	Weak transcription	Pancreas	Pancrea
7	chr12:21985000-22003000	Weak transcription	Right Ventricle	heart
8	chr12:21985400-22005000	Weak transcription	NHLF	lung
9	chr12:21985600-22002800	Weak transcription	Fetal Lung	lung
10	chr12:21985800-22004800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:21994600-21999000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:21995400-22003200	Weak transcription	Adipose Nuclei	Adipose
13	chr12:21995600-22004400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:21995600-22022200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:21995600-22034800	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:21995800-22022600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:21997400-22000000	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:21997600-21999200	Strong transcription	Fetal Muscle Leg	muscle
19	chr12:21997600-22016600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:21997800-21998400	Strong transcription	Left Ventricle	heart
21	chr12:21998000-21999000	Weak transcription	Fetal Muscle Trunk	muscle

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