Variant report

Variant	rs2733225
Chromosome Location	chr15:44393342-44393343
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	chr15:44391833..44394389-chr15:44398230..44401286,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2059625	1.00[EUR][1000 genomes]
rs2555377	1.00[EUR][1000 genomes]
rs28537381	1.00[EUR][1000 genomes]
rs28645643	1.00[EUR][1000 genomes]
rs2899104	1.00[EUR][1000 genomes]
rs2929276	1.00[EUR][1000 genomes]
rs2930534	1.00[EUR][1000 genomes]
rs35093130	1.00[EUR][1000 genomes]
rs475758	1.00[EUR][1000 genomes]
rs483165	1.00[EUR][1000 genomes]
rs494774	1.00[EUR][1000 genomes]
rs612258	1.00[EUR][1000 genomes]
rs7171948	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv904173	chr15:44391572-44522214	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv904174	chr15:44391572-44538660	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44379400-44397400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:44381200-44394200	Weak transcription	HUVEC	blood vessel
3	chr15:44381800-44400800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:44384600-44393400	Weak transcription	HSMMtube	muscle
5	chr15:44384800-44393400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:44385000-44393400	Weak transcription	A549	lung
7	chr15:44385000-44393400	Weak transcription	HSMM	muscle
8	chr15:44385000-44393600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr15:44385000-44393600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr15:44385800-44393400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:44388000-44393400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:44388600-44398000	Enhancers	Brain Substantia Nigra	brain
13	chr15:44391000-44393800	Enhancers	Fetal Heart	heart
14	chr15:44391000-44394200	Enhancers	Brain Hippocampus Middle	brain
15	chr15:44391200-44394200	Enhancers	Brain Cingulate Gyrus	brain
16	chr15:44391200-44396400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:44391400-44394400	Enhancers	NH-A	brain
18	chr15:44391400-44397000	Enhancers	NHDF-Ad	bronchial
19	chr15:44391600-44394400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:44391800-44394200	Weak transcription	Hela-S3	cervix
21	chr15:44391800-44394400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:44391800-44395600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:44392200-44393400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr15:44392200-44393400	Enhancers	Fetal Muscle Trunk	muscle
25	chr15:44392200-44393400	Weak transcription	NHLF	lung
26	chr15:44392400-44394400	Enhancers	Brain Angular Gyrus	brain
27	chr15:44392400-44396200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:44392400-44396400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:44392600-44395000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr15:44392600-44396400	Enhancers	Brain Anterior Caudate	brain
31	chr15:44392800-44394200	Enhancers	NHEK	skin
32	chr15:44392800-44394400	Enhancers	HMEC	breast
33	chr15:44392800-44395400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr15:44392800-44396200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr15:44392800-44396200	Enhancers	Osteobl	bone
36	chr15:44392800-44396400	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr15:44393000-44393400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:44393200-44393400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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