Variant report

Variant	rs73448507
Chromosome Location	chr13:38055975-38055976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
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	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60802298	1.00[AMR][1000 genomes]
rs60897708	1.00[AMR][1000 genomes]
rs7323037	1.00[AMR][1000 genomes]
rs73448566	1.00[AMR][1000 genomes]
rs73448575	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	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73464453	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7984526	1.00[AMR][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	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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38051400-38058200	Weak transcription	NHLF	lung
2	chr13:38053600-38063600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:38054000-38056600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr13:38054200-38056400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr13:38054200-38056400	Enhancers	Colon Smooth Muscle	Colon
6	chr13:38054400-38056800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:38054800-38057600	Enhancers	Fetal Lung	lung
8	chr13:38055000-38056200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:38055000-38056400	Enhancers	Osteobl	bone
10	chr13:38055200-38056000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:38055200-38056200	Enhancers	Rectal Smooth Muscle	rectum
12	chr13:38055200-38056400	Enhancers	NH-A	brain
13	chr13:38055200-38056600	Enhancers	Fetal Kidney	kidney
14	chr13:38055200-38056600	Enhancers	Fetal Stomach	stomach
15	chr13:38055200-38056800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr13:38055400-38056200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr13:38055400-38056600	Enhancers	NHDF-Ad	bronchial
18	chr13:38055600-38056200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:38055600-38056400	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr13:38055800-38056200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr13:38055800-38059400	Weak transcription	Ovary	ovary
22	chr13:38055800-38060000	Weak transcription	Fetal Muscle Leg	muscle
23	chr13:38055800-38065200	Weak transcription	HSMMtube	muscle

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