Variant report

Variant	rs72924751
Chromosome Location	chr3:98316815-98316816
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11918479	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11921054	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12152237	1.00[ASN][1000 genomes]
rs12152330	1.00[ASN][1000 genomes]
rs2061581	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55789072	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58092755	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58134345	0.83[EUR][1000 genomes]
rs58961652	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59783065	0.83[EUR][1000 genomes]
rs60105848	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60339310	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60690253	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6784444	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6805687	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72924748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72926840	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72928862	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930920	1.00[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	nsv528056	chr3:98101101-98317836	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv520503	chr3:98102801-98317836	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv834775	chr3:98170059-98367552	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3390386	chr3:98174549-98579953	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv997484	chr3:98284283-98371420	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1000357	chr3:98284283-98381473	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98313000-98317000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:98313000-98321400	Enhancers	Liver	Liver
3	chr3:98313200-98317000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:98313200-98321200	Weak transcription	Fetal Thymus	thymus
5	chr3:98313200-98322600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:98313400-98317200	Weak transcription	Adipose Nuclei	Adipose
7	chr3:98313600-98317200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:98314400-98317000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr3:98315200-98321000	Enhancers	HepG2	liver
10	chr3:98315600-98317200	Enhancers	K562	blood
11	chr3:98315800-98319400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr3:98316000-98319600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr3:98316400-98317600	Enhancers	Primary hematopoietic stem cells	blood
14	chr3:98316600-98317800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:98316600-98317800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:98316600-98317800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr3:98316800-98317400	Enhancers	Thymus	Thymus
18	chr3:98316800-98318000	Enhancers	GM12878-XiMat	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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