Variant report

Variant	rs28479591
Chromosome Location	chr15:44356353-44356354
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44356168..44359014-chr15:44362132..44365399,3	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10459588	1.00[ASN][1000 genomes]
rs11635948	0.87[ASN][1000 genomes]
rs12900880	0.88[ASN][1000 genomes]
rs12910886	1.00[ASN][1000 genomes]
rs1426658	0.88[ASN][1000 genomes]
rs16952932	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16958670	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16958691	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1820482	1.00[ASN][1000 genomes]
rs2252959	1.00[ASN][1000 genomes]
rs2615279	1.00[ASN][1000 genomes]
rs2696085	0.91[ASN][1000 genomes]
rs2696086	0.91[ASN][1000 genomes]
rs2696088	0.91[ASN][1000 genomes]
rs2696091	1.00[ASN][1000 genomes]
rs28375626	0.92[AMR][1000 genomes]
rs28623028	0.92[AMR][1000 genomes]
rs28656778	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28832708	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2950619	1.00[ASN][1000 genomes]
rs2950620	0.91[ASN][1000 genomes]
rs2952447	0.91[ASN][1000 genomes]
rs4924728	0.95[ASN][1000 genomes]
rs57575746	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58008065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58278421	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58541819	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58882193	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60536495	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61271143	0.92[AMR][1000 genomes]
rs6493094	0.88[ASN][1000 genomes]
rs6493096	1.00[ASN][1000 genomes]
rs6493098	1.00[ASN][1000 genomes]
rs7162529	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7179696	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8029187	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8029425	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8030125	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs8041328	0.92[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv1052511	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv542371	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1045362	chr15:44280481-44414443	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	nsv832989	chr15:44306469-44461710	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3351630	chr15:44334624-44547841	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv3331124	chr15:44340909-44367883	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44349200-44363000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr15:44351600-44358000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:44352600-44356400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr15:44352600-44362800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr15:44352800-44363400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr15:44353200-44360000	Weak transcription	Brain Hippocampus Middle	brain
7	chr15:44353400-44361200	Weak transcription	Brain Angular Gyrus	brain
8	chr15:44353600-44358000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr15:44354000-44358200	Weak transcription	Brain Substantia Nigra	brain
10	chr15:44354000-44363000	Weak transcription	Fetal Heart	heart
11	chr15:44354200-44358000	Weak transcription	Brain Anterior Caudate	brain
12	chr15:44355400-44358800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:44355400-44361200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:44355800-44356600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr15:44356000-44356600	Strong transcription	NHEK	skin
16	chr15:44356200-44358600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr15:44356200-44358800	Enhancers	NHDF-Ad	bronchial

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