Variant report

Variant	rs73342938
Chromosome Location	chr5:126542258-126542259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126540940..126545272-chr5:126547705..126551506,4	K562	blood:
2	chr5:126362711..126365443-chr5:126540946..126543546,2	MCF-7	breast:
3	chr5:126541458..126543410-chr5:126564041..126565697,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs56676434	1.00[AMR][1000 genomes]
rs56765813	1.00[AMR][1000 genomes]
rs59296009	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60564596	1.00[AMR][1000 genomes]
rs6868192	0.83[AMR][1000 genomes]
rs6868511	0.83[AMR][1000 genomes]
rs6868955	0.83[AMR][1000 genomes]
rs73337293	0.83[AMR][1000 genomes]
rs73337295	0.83[AMR][1000 genomes]
rs73339203	0.83[AMR][1000 genomes]
rs73339207	0.83[AMR][1000 genomes]
rs73339210	0.83[AMR][1000 genomes]
rs73339218	0.83[AMR][1000 genomes]
rs73339225	0.83[AMR][1000 genomes]
rs73339241	0.83[AMR][1000 genomes]
rs73339244	0.83[AMR][1000 genomes]
rs73339298	1.00[AMR][1000 genomes]
rs73339301	1.00[AMR][1000 genomes]
rs73341206	1.00[AMR][1000 genomes]
rs73341218	1.00[AMR][1000 genomes]
rs73342910	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73342912	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73342931	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73342940	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7709283	0.83[AMR][1000 genomes]
rs7722202	0.83[AMR][1000 genomes]
rs7722206	0.83[AMR][1000 genomes]
rs7729101	0.83[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	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126539800-126543000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:126540000-126542800	Enhancers	NH-A	brain
3	chr5:126540800-126543000	Enhancers	HUVEC	blood vessel
4	chr5:126541200-126542800	Enhancers	HMEC	breast
5	chr5:126541200-126543000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:126541400-126542400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:126541600-126542400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:126541600-126542800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:126541600-126542800	Enhancers	HSMM	muscle
10	chr5:126541800-126543000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:126542000-126542400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:126542000-126542400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:126542000-126542600	Enhancers	HepG2	liver
14	chr5:126542000-126542600	Enhancers	NHEK	skin
15	chr5:126542000-126542800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:126542200-126542400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:126542200-126542400	Flanking Active TSS	Osteobl	bone
18	chr5:126542200-126542600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:126542200-126542600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr5:126542200-126542600	Enhancers	Brain Cingulate Gyrus	brain
21	chr5:126542200-126542600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr5:126542200-126542600	Enhancers	Fetal Stomach	stomach
23	chr5:126542200-126542600	Flanking Active TSS	A549	lung
24	chr5:126542200-126542600	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
25	chr5:126542200-126542800	Enhancers	Brain Hippocampus Middle	brain
26	chr5:126542200-126543000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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