Variant report

Variant	rs60656302
Chromosome Location	chr12:117103559-117103560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs58382373	0.82[AMR][1000 genomes]
rs7299368	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399267	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399270	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7962169	0.84[AMR][1000 genomes]
rs7962186	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7980530	0.84[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	esv1794859	chr12:117087267-117103935	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117100600-117103800	Weak transcription	Left Ventricle	heart
2	chr12:117101000-117103600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:117101000-117103800	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:117101200-117103600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:117101200-117104200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:117102800-117104400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:117102800-117104400	Enhancers	Fetal Muscle Trunk	muscle
8	chr12:117103000-117104200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:117103000-117104200	Enhancers	Primary hematopoietic stem cells	blood
10	chr12:117103000-117104400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:117103000-117104400	Enhancers	Adipose Nuclei	Adipose
12	chr12:117103000-117104600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:117103200-117103600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr12:117103200-117103600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr12:117103200-117103600	Weak transcription	Lung	lung
16	chr12:117103200-117104000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr12:117103200-117104200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr12:117103200-117104200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr12:117103200-117104200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:117103200-117104400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr12:117103200-117104400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr12:117103200-117104600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:117103200-117104600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr12:117103200-117104800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:117103400-117103600	Enhancers	Right Ventricle	heart
26	chr12:117103400-117103800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:117103400-117104200	Enhancers	NHDF-Ad	bronchial
28	chr12:117103400-117104400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr12:117103400-117104400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:117103400-117104600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr12:117103400-117104800	Enhancers	H1 Cell Line	embryonic stem cell

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