Variant report

Variant	rs73448575
Chromosome Location	chr13:38068849-38068850
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17055812	1.00[AMR][1000 genomes]
rs17055914	1.00[AMR][1000 genomes]
rs59513287	1.00[AMR][1000 genomes]
rs60802298	1.00[AMR][1000 genomes]
rs60897708	1.00[AMR][1000 genomes]
rs7323037	1.00[AMR][1000 genomes]
rs73448507	1.00[AMR][1000 genomes]
rs73448566	1.00[AMR][1000 genomes]
rs73448579	1.00[AMR][1000 genomes]
rs73448581	1.00[AMR][1000 genomes]
rs73448583	1.00[AMR][1000 genomes]
rs73448585	1.00[AMR][1000 genomes]
rs73448586	1.00[AMR][1000 genomes]
rs73448588	1.00[AMR][1000 genomes]
rs73448590	1.00[AMR][1000 genomes]
rs73448599	1.00[AMR][1000 genomes]
rs73464432	1.00[AMR][1000 genomes]
rs73464436	1.00[AMR][1000 genomes]
rs73464453	1.00[AMR][1000 genomes]
rs7984526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv899994	chr13:37816086-38087145	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1038850	chr13:37820489-38209571	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv34109	chr13:37843819-38276391	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv832582	chr13:37943056-38124252	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1045716	chr13:37952062-38394595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv832583	chr13:38030752-38202000	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1053772	chr13:38065117-38084745	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
9	nsv561494	chr13:38065446-38118531	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv517476	chr13:38065446-38121560	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1053615	chr13:38065990-38084745	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
12	nsv1054580	chr13:38066478-38084745	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	n/a
13	nsv1044707	chr13:38066478-38115110	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1045316	chr13:38067143-38084745	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38061400-38070000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr13:38065800-38069800	Enhancers	Osteobl	bone
3	chr13:38066000-38069200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:38066000-38069200	Enhancers	Colon Smooth Muscle	Colon
5	chr13:38066200-38069200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:38066200-38070000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:38067200-38069400	Weak transcription	Left Ventricle	heart
8	chr13:38067200-38070000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr13:38067600-38069200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:38067600-38069200	Weak transcription	HMEC	breast
11	chr13:38067600-38069200	Weak transcription	NHDF-Ad	bronchial
12	chr13:38067600-38069400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:38067600-38069400	Weak transcription	NHEK	skin
14	chr13:38067600-38069400	Weak transcription	NHLF	lung
15	chr13:38067800-38069000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr13:38068200-38069200	Weak transcription	HSMM	muscle
17	chr13:38068400-38069000	Weak transcription	HSMMtube	muscle
18	chr13:38068400-38069600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr13:38068400-38069800	Weak transcription	Fetal Muscle Leg	muscle

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