Variant report

Variant	rs56909791
Chromosome Location	chr2:48274553-48274554
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs59044598	1.00[AMR][1000 genomes]
rs6706584	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6709977	1.00[AMR][1000 genomes]
rs6723068	1.00[AMR][1000 genomes]
rs6750166	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882131	1.00[AMR][1000 genomes]
rs72882141	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882148	1.00[AMR][1000 genomes]
rs72883965	1.00[AMR][1000 genomes]
rs72883976	1.00[AMR][1000 genomes]
rs72883981	1.00[AMR][1000 genomes]
rs72885740	1.00[AMR][1000 genomes]
rs72885747	1.00[AMR][1000 genomes]
rs72885750	1.00[AMR][1000 genomes]
rs72885760	1.00[AMR][1000 genomes]
rs7557354	1.00[AMR][1000 genomes]
rs7606543	1.00[AMR][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	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv874000	chr2:48078838-48291582	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv1000455	chr2:48202161-48362638	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv833969	chr2:48220927-48328328	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48270800-48275600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:48272600-48274600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:48273800-48275600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:48274000-48274800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:48274200-48274800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:48274200-48274800	Enhancers	Placenta	Placenta
7	chr2:48274200-48275800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr2:48274400-48274600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr2:48274400-48274600	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr2:48274400-48274600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:48274400-48274800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:48274400-48274800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:48274400-48274800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr2:48274400-48274800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr2:48274400-48274800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:48274400-48274800	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr2:48274400-48274800	Active TSS	Fetal Muscle Trunk	muscle
18	chr2:48274400-48274800	Enhancers	NHEK	skin
19	chr2:48274400-48275000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:48274400-48275000	Active TSS	H9 Cell Line	embryonic stem cell
21	chr2:48274400-48275000	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr2:48274400-48275200	Active TSS	H1 Cell Line	embryonic stem cell
23	chr2:48274400-48275600	Active TSS	HUES48 Cell Line	embryonic stem cell

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