Variant report

Variant	rs55961287
Chromosome Location	chr12:32804211-32804212
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10506096	1.00[AMR][1000 genomes]
rs11832493	1.00[AMR][1000 genomes]
rs16920084	1.00[AMR][1000 genomes]
rs16920116	1.00[AMR][1000 genomes]
rs16920125	1.00[AMR][1000 genomes]
rs55653318	1.00[AMR][1000 genomes]
rs55765989	1.00[AMR][1000 genomes]
rs56160613	1.00[AMR][1000 genomes]
rs56231715	1.00[AMR][1000 genomes]
rs56671444	1.00[AMR][1000 genomes]
rs57389939	1.00[AMR][1000 genomes]
rs58682304	1.00[AMR][1000 genomes]
rs59023860	1.00[AMR][1000 genomes]
rs59450415	1.00[AMR][1000 genomes]
rs59670367	1.00[AMR][1000 genomes]
rs60243898	1.00[AMR][1000 genomes]
rs60330503	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072663	1.00[AMR][1000 genomes]
rs74072674	1.00[AMR][1000 genomes]
rs74072685	1.00[AMR][1000 genomes]
rs74072936	1.00[AMR][1000 genomes]
rs74072944	1.00[AMR][1000 genomes]
rs74072945	1.00[AMR][1000 genomes]
rs74073029	1.00[AMR][1000 genomes]
rs74073061	1.00[AMR][1000 genomes]
rs74073064	1.00[AMR][1000 genomes]
rs74073069	1.00[AMR][1000 genomes]
rs7975080	1.00[AMR][1000 genomes]
rs877129	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047658	chr12:32792554-32835646	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv541457	chr12:32792554-32835646	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32782000-32810600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:32793600-32804400	Weak transcription	Stomach Mucosa	stomach
3	chr12:32793600-32810400	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:32793600-32810800	Weak transcription	Ovary	ovary
5	chr12:32793600-32812800	Weak transcription	Aorta	Aorta
6	chr12:32793600-32813000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:32793600-32819600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:32793800-32810400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:32794800-32812200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:32796000-32810400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:32797000-32812200	Weak transcription	Adipose Nuclei	Adipose
12	chr12:32798000-32806400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:32799600-32810800	Weak transcription	Brain Substantia Nigra	brain
14	chr12:32799600-32812000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:32799600-32812200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:32799600-32812800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:32799600-32813000	Weak transcription	Left Ventricle	heart
18	chr12:32799600-32813200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr12:32800800-32805000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:32803000-32804800	Enhancers	HUVEC	blood vessel
21	chr12:32803400-32804400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:32803400-32804600	Enhancers	HMEC	breast
23	chr12:32803400-32804600	Enhancers	NHEK	skin
24	chr12:32803400-32805200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:32803600-32805000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:32803800-32805200	Enhancers	HepG2	liver

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