Variant report

Variant	rs7295745
Chromosome Location	chr12:30353698-30353699
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11836561	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1351967	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1843321	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1872442	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7971708	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv821695	chr12:30287314-30450174	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv516421	chr12:30309076-30411299	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1044929	chr12:30318488-30409475	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1039081	chr12:30320388-30410076	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1050136	chr12:30320549-30415565	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv541437	chr12:30320549-30415565	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1050921	chr12:30334940-30409475	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30350800-30353800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:30350800-30353800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:30353400-30354200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
4	chr12:30353400-30354800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr12:30353600-30353800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
6	chr12:30353600-30353800	Enhancers	Liver	Liver
7	chr12:30353600-30353800	Bivalent Enhancer	Fetal Intestine Large	intestine
8	chr12:30353600-30353800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr12:30353600-30353800	Enhancers	Pancreas	Pancrea
10	chr12:30353600-30353800	Active TSS	Stomach Smooth Muscle	stomach
11	chr12:30353600-30354000	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:30353600-30354000	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr12:30353600-30354200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:30353600-30354600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr12:30353600-30354600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:30353600-30354600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:30353600-30354600	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr12:30353600-30354600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr12:30353600-30354600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:30353600-30354800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr12:30353600-30354800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr12:30353600-30354800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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