Variant report

Variant	rs73216208
Chromosome Location	chr5:112030988-112030989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112030920..112033533-chr5:112072037..112074629,2	MCF-7	breast:
2	chr5:112030715..112032884-chr5:112068786..112071232,2	K562	blood:
3	chr5:112030435..112033305-chr5:112072369..112073887,2	K562	blood:
4	chr5:112030572..112032365-chr5:112252746..112254378,2	K562	blood:
5	chr5:112024489..112026491-chr5:112028253..112031270,3	K562	blood:

Variant related genes	Relation type
ENSG00000134982	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11951746	1.00[AMR][1000 genomes]
rs17134881	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134929	1.00[AMR][1000 genomes]
rs17135094	1.00[AMR][1000 genomes]
rs55838903	1.00[AMR][1000 genomes]
rs56004167	1.00[AMR][1000 genomes]
rs56044723	1.00[AMR][1000 genomes]
rs56224801	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57076790	1.00[AMR][1000 genomes]
rs57186392	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58659317	1.00[AMR][1000 genomes]
rs58668778	0.83[AFR][1000 genomes]
rs58929329	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60959200	1.00[AMR][1000 genomes]
rs61667491	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6866838	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6876184	1.00[AMR][1000 genomes]
rs6895431	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73214389	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73214398	0.88[AFR][1000 genomes]
rs73214399	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216212	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216225	0.86[AFR][1000 genomes]
rs73216228	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216233	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216237	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216295	1.00[AMR][1000 genomes]
rs73216300	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73218128	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73218131	1.00[AMR][1000 genomes]
rs73218137	1.00[AMR][1000 genomes]
rs73218139	1.00[AMR][1000 genomes]
rs73218152	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73220040	1.00[AMR][1000 genomes]
rs73220042	1.00[AMR][1000 genomes]
rs73220045	1.00[AMR][1000 genomes]
rs73220047	1.00[AMR][1000 genomes]
rs73788579	1.00[AMR][1000 genomes]
rs73791429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73791483	1.00[AMR][1000 genomes]
rs7728137	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7728636	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr5:112027000-112032600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:112029800-112031400	Enhancers	HSMM	muscle
3	chr5:112030200-112031400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:112030200-112031400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:112030200-112031400	Flanking Active TSS	K562	blood
6	chr5:112030400-112031200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:112030400-112032000	Enhancers	Dnd41	blood
8	chr5:112030600-112031000	Enhancers	Fetal Intestine Small	intestine
9	chr5:112030600-112031000	Enhancers	Osteobl	bone
10	chr5:112030600-112031200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr5:112030600-112031200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:112030600-112031200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr5:112030600-112031400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:112030600-112031400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:112030600-112031400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:112030600-112031400	Flanking Active TSS	HSMMtube	muscle
17	chr5:112030600-112031400	Enhancers	NHDF-Ad	bronchial
18	chr5:112030600-112031400	Enhancers	NHLF	lung
19	chr5:112030800-112031000	Enhancers	Duodenum Mucosa	Duodenum
20	chr5:112030800-112031200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:112030800-112031200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:112030800-112031400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:112030800-112031400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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