Variant report

Variant	rs73758216
Chromosome Location	chr5:54141553-54141554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:53812998..53813820-chr5:54140681..54141643,5	K562	blood:
2	chr5:53812974..53814247-chr5:54140692..54141615,7	MCF-7	breast:
3	chr5:53809845..53810748-chr5:54141094..54141605,2	MCF-7	breast:
4	chr5:54141228..54143207-chr5:54145045..54147892,2	K562	blood:

Variant related genes	Relation type
ENSG00000178996	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs58026447	1.00[AMR][1000 genomes]
rs73755292	1.00[AMR][1000 genomes]
rs73755298	1.00[AMR][1000 genomes]
rs73755300	1.00[AMR][1000 genomes]
rs73758208	1.00[AMR][1000 genomes]
rs73758210	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	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3358092	chr5:54077828-54189150	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54138400-54142000	Enhancers	NHLF	lung
2	chr5:54139600-54142000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:54140000-54141600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:54140000-54141800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:54140200-54141800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:54140400-54141800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:54140400-54141800	Enhancers	Osteobl	bone
8	chr5:54140400-54142000	Enhancers	HSMMtube	muscle
9	chr5:54140800-54141600	Enhancers	HUVEC	blood vessel
10	chr5:54140800-54141800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:54140800-54141800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:54140800-54142000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:54140800-54142000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:54140800-54142000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:54140800-54142400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:54141000-54141600	Weak transcription	Aorta	Aorta
17	chr5:54141000-54142000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:54141000-54142000	Enhancers	HSMM	muscle
19	chr5:54141200-54141600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr5:54141200-54141600	Enhancers	Hela-S3	cervix
21	chr5:54141200-54141800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:54141200-54141800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:54141200-54141800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:54141200-54141800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:54141200-54141800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:54141200-54141800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:54141200-54141800	Enhancers	HMEC	breast
28	chr5:54141200-54141800	Enhancers	K562	blood
29	chr5:54141200-54141800	Enhancers	NHEK	skin
30	chr5:54141200-54142000	Enhancers	Brain Anterior Caudate	brain
31	chr5:54141400-54141800	Enhancers	NH-A	brain
32	chr5:54141400-54142200	Enhancers	NHDF-Ad	bronchial

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