Variant report

Variant	rs74108751
Chromosome Location	chr12:75759982-75759983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11366	1.00[AMR][1000 genomes]
rs55862053	1.00[AMR][1000 genomes]
rs56198554	1.00[AMR][1000 genomes]
rs56242432	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57417036	1.00[AMR][1000 genomes]
rs57936468	1.00[AMR][1000 genomes]
rs60941260	1.00[AMR][1000 genomes]
rs7313298	1.00[AMR][1000 genomes]
rs74108714	1.00[AMR][1000 genomes]
rs74108721	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108756	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108760	1.00[AMR][1000 genomes]
rs74108761	1.00[AMR][1000 genomes]
rs74108762	1.00[AMR][1000 genomes]
rs74108767	1.00[AMR][1000 genomes]
rs74108768	1.00[AMR][1000 genomes]
rs74108773	1.00[AMR][1000 genomes]
rs74108775	1.00[AMR][1000 genomes]
rs74108779	1.00[AMR][1000 genomes]
rs74108787	1.00[AMR][1000 genomes]
rs74108788	1.00[AMR][1000 genomes]
rs74108791	1.00[AMR][1000 genomes]
rs74108803	1.00[AMR][1000 genomes]
rs74108812	1.00[AMR][1000 genomes]
rs74108816	1.00[AMR][1000 genomes]
rs74108826	1.00[AMR][1000 genomes]
rs74108833	1.00[AMR][1000 genomes]
rs74108834	1.00[AMR][1000 genomes]
rs74108836	1.00[AMR][1000 genomes]
rs74108840	1.00[AMR][1000 genomes]
rs74108903	1.00[AMR][1000 genomes]
rs74110939	1.00[AMR][1000 genomes]
rs74110940	1.00[AMR][1000 genomes]
rs74110945	1.00[AMR][1000 genomes]
rs74110966	1.00[AMR][1000 genomes]
rs74110967	1.00[AMR][1000 genomes]
rs74111441	1.00[AMR][1000 genomes]
rs74111442	1.00[AMR][1000 genomes]
rs7954292	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1054059	chr12:75654631-75776721	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv899312	chr12:75692261-75790817	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75749600-75782800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:75749800-75771800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:75754000-75784200	Weak transcription	Right Ventricle	heart
4	chr12:75754600-75760000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:75754600-75760400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:75757200-75783400	Weak transcription	Ovary	ovary
7	chr12:75758000-75760400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:75758200-75760000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:75758200-75760200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr12:75758200-75760600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:75758200-75782600	Weak transcription	Aorta	Aorta
12	chr12:75758600-75760000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr12:75758600-75760800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:75758600-75760800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:75758800-75760200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:75758800-75760600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr12:75758800-75760600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr12:75759000-75760000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:75759000-75760000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:75759000-75760200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr12:75759000-75760200	Weak transcription	NHDF-Ad	bronchial
22	chr12:75759200-75760200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:75759200-75760200	Weak transcription	HSMM	muscle
24	chr12:75759200-75760400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:75759600-75760000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:75759800-75760800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:75759800-75760800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:75759800-75760800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr12:75759800-75761000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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