Variant report

Variant	rs73214399
Chromosome Location	chr5:112020442-112020443
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112018949..112022294-chr5:112089786..112092475,3	MCF-7	breast:
2	chr5:112017960..112020508-chr5:112020777..112023084,3	K562	blood:
3	chr5:112015432..112017657-chr5:112019656..112021443,2	K562	blood:
4	chr5:112003283..112005720-chr5:112018708..112021018,2	MCF-7	breast:
5	chr5:112015114..112017797-chr5:112018212..112021156,3	K562	blood:
6	chr5:112018915..112020508-chr5:112020831..112023084,2	K562	blood:
7	chr5:112018990..112022293-chr5:112024063..112027716,5	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11951746	1.00[AMR][1000 genomes]
rs17134881	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134929	1.00[AMR][1000 genomes]
rs55838903	1.00[AMR][1000 genomes]
rs56004167	1.00[AMR][1000 genomes]
rs56044723	1.00[AMR][1000 genomes]
rs56224801	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57186392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58659317	1.00[AMR][1000 genomes]
rs58668778	0.83[AFR][1000 genomes]
rs58929329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60959200	1.00[AMR][1000 genomes]
rs61667491	1.00[AMR][1000 genomes]
rs6866838	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6876184	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6895431	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73214389	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73214398	0.93[AFR][1000 genomes]
rs73216208	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216225	0.90[AFR][1000 genomes]
rs73216228	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216233	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216237	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216295	1.00[AMR][1000 genomes]
rs73216300	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73218128	1.00[AMR][1000 genomes]
rs73218131	1.00[AMR][1000 genomes]
rs73218137	1.00[AMR][1000 genomes]
rs73218139	1.00[AMR][1000 genomes]
rs73218152	1.00[AMR][1000 genomes]
rs73220040	1.00[AMR][1000 genomes]
rs73220042	1.00[AMR][1000 genomes]
rs73220045	1.00[AMR][1000 genomes]
rs73788579	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73791429	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73791483	1.00[AMR][1000 genomes]
rs7728137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7728636	0.90[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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112016400-112022600	Enhancers	NHDF-Ad	bronchial
2	chr5:112018400-112020600	Weak transcription	Fetal Brain Female	brain
3	chr5:112018800-112024200	Weak transcription	K562	blood
4	chr5:112019400-112020800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:112019600-112020800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:112019600-112020800	Enhancers	Brain Angular Gyrus	brain
7	chr5:112019600-112020800	Enhancers	Brain Anterior Caudate	brain
8	chr5:112019600-112020800	Enhancers	Brain Cingulate Gyrus	brain
9	chr5:112019600-112020800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr5:112019600-112020800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:112019600-112020800	Enhancers	Right Atrium	heart
12	chr5:112019600-112021000	Enhancers	Primary B cells from peripheral blood	blood
13	chr5:112019600-112021000	Enhancers	Rectal Smooth Muscle	rectum
14	chr5:112019600-112021200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:112019600-112021200	Enhancers	Brain Germinal Matrix	brain
16	chr5:112019600-112021200	Enhancers	Fetal Muscle Leg	muscle
17	chr5:112019600-112021600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:112019600-112021800	Enhancers	HSMM	muscle
19	chr5:112019600-112022000	Enhancers	Ovary	ovary
20	chr5:112019600-112022200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:112019600-112022600	Enhancers	Fetal Heart	heart
22	chr5:112019600-112022600	Enhancers	NHLF	lung
23	chr5:112019800-112020800	Enhancers	Fetal Brain Male	brain
24	chr5:112020000-112021800	Enhancers	Osteobl	bone
25	chr5:112020000-112022200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:112020200-112020600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:112020200-112020600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:112020200-112020600	Enhancers	Aorta	Aorta
29	chr5:112020200-112020600	Enhancers	Psoas Muscle	Psoas
30	chr5:112020200-112020800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:112020200-112020800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:112020200-112020800	Enhancers	Brain Hippocampus Middle	brain
33	chr5:112020200-112020800	Enhancers	NHEK	skin
34	chr5:112020200-112021000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:112020200-112021000	Enhancers	Brain Substantia Nigra	brain
36	chr5:112020200-112021400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr5:112020200-112021400	Enhancers	Colon Smooth Muscle	Colon
38	chr5:112020200-112021400	Enhancers	NH-A	brain
39	chr5:112020200-112022200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:112020200-112022600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:112020400-112020600	Active TSS	HSMMtube	muscle
42	chr5:112020400-112020800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:112020400-112020800	Enhancers	Adipose Nuclei	Adipose
44	chr5:112020400-112020800	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr5:112020400-112020800	Flanking Active TSS	GM12878-XiMat	blood
46	chr5:112020400-112021000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:112020400-112021800	Weak transcription	Primary B cells from cord blood	blood
48	chr5:112020400-112024800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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