Variant report

Variant	rs60416613
Chromosome Location	chr4:129346511-129346512
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr4:129345770-129346607	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129345774..129347979-chr4:129473774..129476598,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251432	TF binding region
ENSG00000273077	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10020418	1.00[AMR][1000 genomes]
rs10025252	1.00[AMR][1000 genomes]
rs1216403	1.00[AMR][1000 genomes]
rs17013261	0.80[AFR][1000 genomes]
rs17013279	0.87[AFR][1000 genomes]
rs17013283	0.87[AFR][1000 genomes]
rs17013309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28422810	1.00[AMR][1000 genomes]
rs28612367	1.00[AMR][1000 genomes]
rs28670624	1.00[AMR][1000 genomes]
rs28689154	1.00[AMR][1000 genomes]
rs60266924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60685389	0.87[AFR][1000 genomes]
rs6835797	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129344600-129347000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:129344800-129349200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:129345000-129348000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:129345400-129346600	Enhancers	NHEK	skin
5	chr4:129345400-129346800	Enhancers	HMEC	breast
6	chr4:129345400-129348400	Weak transcription	A549	lung
7	chr4:129345600-129346600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:129345600-129346600	Enhancers	NHDF-Ad	bronchial
9	chr4:129345600-129346600	Enhancers	Osteobl	bone
10	chr4:129345600-129347200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:129345600-129348600	Weak transcription	Psoas Muscle	Psoas
12	chr4:129345800-129346600	Enhancers	HSMMtube	muscle
13	chr4:129345800-129346800	Enhancers	Fetal Heart	heart
14	chr4:129346000-129346600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:129346000-129346800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:129346000-129348400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:129346200-129346600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:129346200-129349200	Weak transcription	Adipose Nuclei	Adipose
19	chr4:129346400-129348600	Weak transcription	Pancreas	Pancrea
20	chr4:129346400-129348600	Weak transcription	Stomach Mucosa	stomach
21	chr4:129346400-129348800	Weak transcription	Muscle Satellite Cultured Cells	--

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