Variant report

Variant	rs56095597
Chromosome Location	chr12:117532678-117532679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10850758	0.97[ASN][1000 genomes]
rs11068326	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12371881	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134364	0.88[EUR][1000 genomes]
rs7316090	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7955979	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117515200-117535200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:117527400-117533200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:117528200-117534600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:117528400-117534600	Enhancers	Pancreas	Pancrea
5	chr12:117528800-117536000	Weak transcription	Right Atrium	heart
6	chr12:117529200-117534600	Weak transcription	Brain Anterior Caudate	brain
7	chr12:117529400-117534800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:117529600-117536000	Weak transcription	Lung	lung
9	chr12:117529800-117535000	Weak transcription	Spleen	Spleen
10	chr12:117530000-117534400	Weak transcription	A549	lung
11	chr12:117530000-117535000	Weak transcription	K562	blood
12	chr12:117530200-117535200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:117531600-117533200	Weak transcription	Dnd41	blood
14	chr12:117531600-117535000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:117532000-117533400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:117532000-117533600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr12:117532200-117533400	Weak transcription	Right Ventricle	heart
18	chr12:117532400-117533800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr12:117532400-117534600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr12:117532400-117535200	Weak transcription	Fetal Thymus	thymus
21	chr12:117532600-117533200	Weak transcription	HepG2	liver
22	chr12:117532600-117533800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:117532600-117533800	Weak transcription	Gastric	stomach
24	chr12:117532600-117534000	Weak transcription	Left Ventricle	heart
25	chr12:117532600-117534800	Weak transcription	Fetal Heart	heart
26	chr12:117532600-117535200	Enhancers	Stomach Mucosa	stomach
27	chr12:117532600-117535400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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