Variant report

Variant	rs72649137
Chromosome Location	chr8:58055798-58055799
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:38)

rs_ID	r²[population]
rs11774303	0.83[ASN][1000 genomes]
rs11992943	0.84[ASN][1000 genomes]
rs16921693	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16921694	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16921695	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16921701	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2017474	0.83[ASN][1000 genomes]
rs2028533	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28408163	0.84[ASN][1000 genomes]
rs28408204	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28449911	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28548459	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28578130	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28690714	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55868332	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56325221	0.84[ASN][1000 genomes]
rs56406973	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57445614	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59079777	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59139449	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59490468	0.88[AFR][1000 genomes]
rs59545981	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60398072	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6980581	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6980596	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6984434	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6989809	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6997857	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6999376	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7001233	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7007444	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72649134	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72649136	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72649138	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72649139	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7814991	0.83[ASN][1000 genomes]
rs7823911	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7837180	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029443	chr8:57748114-58057656	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1027125	chr8:57891279-58095884	Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2758161	chr8:57930392-58474449	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2759618	chr8:57930392-58474449	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv533217	chr8:57991065-58789001	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv890933	chr8:58005923-58084006	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv890934	chr8:58037522-58112053	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv890935	chr8:58038406-58114743	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv12840	chr8:58046936-58196713	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv3693378	chr8:58051501-58128557	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv3432915	chr8:58055026-58271178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr8:58054800-58055800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
2	chr8:58054800-58055800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
3	chr8:58054800-58056000	Enhancers	Lung	lung
4	chr8:58054800-58056200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:58054800-58056400	Active TSS	Brain Germinal Matrix	brain
6	chr8:58054800-58057000	Active TSS	Fetal Brain Female	brain
7	chr8:58055000-58055800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:58055000-58056000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:58055000-58056000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr8:58055000-58056000	Bivalent Enhancer	Ovary	ovary
11	chr8:58055200-58055800	Bivalent Enhancer	Adipose Nuclei	Adipose
12	chr8:58055200-58055800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
13	chr8:58055200-58056200	Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr8:58055400-58055800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
15	chr8:58055400-58055800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
16	chr8:58055400-58056000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:58055400-58056200	Enhancers	Pancreas	Pancrea
18	chr8:58055400-58056200	Bivalent Enhancer	Spleen	Spleen
19	chr8:58055600-58055800	Bivalent Enhancer	Brain Anterior Caudate	brain
20	chr8:58055600-58055800	Bivalent Enhancer	Stomach Mucosa	stomach
21	chr8:58055600-58056000	Bivalent Enhancer	Fetal Stomach	stomach
22	chr8:58055600-58056200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:58055600-58056600	Active TSS	Fetal Kidney	kidney

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