Variant report

Variant	rs72996138
Chromosome Location	chr2:134360859-134360860
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10200825	1.00[AMR][1000 genomes]
rs13401160	1.00[AMR][1000 genomes]
rs13426165	1.00[AMR][1000 genomes]
rs16826729	1.00[AMR][1000 genomes]
rs56861595	1.00[AMR][1000 genomes]
rs58896894	1.00[AMR][1000 genomes]
rs60303968	1.00[AMR][1000 genomes]
rs60532004	1.00[AMR][1000 genomes]
rs60818895	1.00[AMR][1000 genomes]
rs6430430	1.00[AMR][1000 genomes]
rs6719987	1.00[AMR][1000 genomes]
rs72992312	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994285	1.00[AMR][1000 genomes]
rs72994288	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73001188	1.00[AMR][1000 genomes]
rs73003129	1.00[AMR][1000 genomes]
rs7576744	1.00[AMR][1000 genomes]
rs7584046	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	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv516644	chr2:134301130-134391214	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv431713	chr2:134316522-134413604	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134354600-134362600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:134355000-134362200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:134355800-134361200	Enhancers	Fetal Muscle Leg	muscle
4	chr2:134357600-134362400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:134358200-134362600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:134358400-134362400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:134358800-134362600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:134359000-134362600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:134359400-134361000	Enhancers	Right Ventricle	heart
10	chr2:134359800-134361400	Enhancers	Right Atrium	heart
11	chr2:134359800-134361600	Enhancers	Fetal Muscle Trunk	muscle
12	chr2:134359800-134361800	Enhancers	Placenta	Placenta
13	chr2:134359800-134362400	Enhancers	Brain Substantia Nigra	brain
14	chr2:134360200-134362800	Weak transcription	NH-A	brain
15	chr2:134360200-134362800	Weak transcription	Osteobl	bone
16	chr2:134360200-134368600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:134360400-134361400	Weak transcription	Fetal Stomach	stomach
18	chr2:134360400-134362200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:134360400-134362800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:134360600-134361600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:134360600-134362400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:134360600-134362600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:134360600-134362600	Weak transcription	Brain Angular Gyrus	brain
24	chr2:134360600-134362800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:134360600-134362800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:134360600-134362800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:134360600-134362800	Weak transcription	NHLF	lung
28	chr2:134360600-134364000	Weak transcription	Brain Anterior Caudate	brain
29	chr2:134360600-134364800	Weak transcription	NHEK	skin
30	chr2:134360600-134365400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:134360800-134361200	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:134360800-134364600	Weak transcription	Fetal Heart	heart
33	chr2:134360800-134365200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:134360800-134367200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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