Variant report

Variant	rs73751147
Chromosome Location	chr5:37772922-37772923
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37766392..37770111-chr5:37772363..37774992,3	K562	blood:
2	chr5:37766392..37768075-chr5:37772148..37773863,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11957138	1.00[EUR][1000 genomes]
rs62358924	0.88[AFR][1000 genomes]
rs73748978	1.00[EUR][1000 genomes]
rs73748981	1.00[EUR][1000 genomes]
rs73751131	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73751407	1.00[EUR][1000 genomes]
rs73751408	1.00[EUR][1000 genomes]
rs73751409	1.00[EUR][1000 genomes]
rs73751411	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS 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	58 gene(s)	inside rSNPs	diseases
2	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37769200-37773400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:37769200-37773800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:37769200-37773800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:37769400-37773200	Enhancers	HMEC	breast
5	chr5:37769400-37773400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:37769400-37774000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:37769600-37773200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:37769600-37774000	Enhancers	NHEK	skin
9	chr5:37770000-37773200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:37770000-37773400	Enhancers	NHLF	lung
11	chr5:37770400-37773400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:37771400-37773000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:37771600-37774000	Enhancers	HSMM	muscle
14	chr5:37771800-37774000	Enhancers	NHDF-Ad	bronchial
15	chr5:37771800-37774000	Enhancers	Osteobl	bone
16	chr5:37772200-37773000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:37772200-37773000	Flanking Active TSS	NH-A	brain
18	chr5:37772200-37774000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:37772400-37773200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:37772600-37773600	Enhancers	HSMMtube	muscle

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