Variant report

Variant	rs72989616
Chromosome Location	chr2:134119656-134119657
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10194766	1.00[EUR][1000 genomes]
rs11900115	1.00[EUR][1000 genomes]
rs11903510	1.00[EUR][1000 genomes]
rs11903555	1.00[EUR][1000 genomes]
rs13388152	1.00[EUR][1000 genomes]
rs16822540	1.00[EUR][1000 genomes]
rs16822568	1.00[EUR][1000 genomes]
rs16822683	1.00[EUR][1000 genomes]
rs16822816	1.00[EUR][1000 genomes]
rs16823190	1.00[EUR][1000 genomes]
rs16855557	1.00[EUR][1000 genomes]
rs16857605	1.00[EUR][1000 genomes]
rs16858020	1.00[EUR][1000 genomes]
rs1836220	1.00[EUR][1000 genomes]
rs56836351	1.00[EUR][1000 genomes]
rs59838856	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6718899	1.00[EUR][1000 genomes]
rs6719786	1.00[EUR][1000 genomes]
rs6733114	1.00[EUR][1000 genomes]
rs72987685	1.00[EUR][1000 genomes]
rs73957082	1.00[EUR][1000 genomes]
rs73957084	1.00[EUR][1000 genomes]
rs7568818	1.00[EUR][1000 genomes]
rs7576431	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3375790	chr2:133906915-134222833	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv834384	chr2:134005229-134188648	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1014718	chr2:134067133-134151633	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv522324	chr2:134085665-134174032	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134116400-134120000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:134117000-134125000	Weak transcription	Right Atrium	heart
3	chr2:134118000-134121400	Enhancers	Brain Hippocampus Middle	brain
4	chr2:134118200-134126400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:134118600-134120000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:134118600-134120400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:134118600-134120800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:134118800-134119800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:134118800-134123000	Weak transcription	Fetal Brain Male	brain
10	chr2:134119000-134120000	Enhancers	Brain Cingulate Gyrus	brain
11	chr2:134119000-134120000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:134119200-134119800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:134119200-134120200	Enhancers	Brain Angular Gyrus	brain
14	chr2:134119200-134120200	Enhancers	Brain Anterior Caudate	brain
15	chr2:134119200-134120400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:134119200-134120400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:134119600-134119800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:134119600-134119800	Enhancers	Fetal Brain Female	brain
19	chr2:134119600-134120000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:134119600-134120000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:134119600-134120000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr2:134119600-134120000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:134119600-134120000	Flanking Active TSS	Brain Substantia Nigra	brain
24	chr2:134119600-134120000	Enhancers	Right Ventricle	heart
25	chr2:134119600-134120000	Flanking Active TSS	Hela-S3	cervix
26	chr2:134119600-134120000	Flanking Active TSS	HMEC	breast
27	chr2:134119600-134120000	Flanking Active TSS	NH-A	brain
28	chr2:134119600-134120000	Flanking Active TSS	NHEK	skin
29	chr2:134119600-134120000	Flanking Active TSS	Osteobl	bone
30	chr2:134119600-134120200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:134119600-134120200	Active TSS	NHDF-Ad	bronchial
32	chr2:134119600-134120400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:134119600-134120400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:134119600-134120400	Enhancers	Adipose Nuclei	Adipose
35	chr2:134119600-134120400	Enhancers	NHLF	lung

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