Variant report

Variant	rs57708299
Chromosome Location	chr5:95431929-95431930
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs57968801	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58041456	1.00[EUR][1000 genomes]
rs59577118	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59929901	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60867883	1.00[EUR][1000 genomes]
rs6885343	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73134494	1.00[EUR][1000 genomes]
rs73134495	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73134499	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73134502	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73136503	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73136507	1.00[EUR][1000 genomes]
rs73136508	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73136510	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73136514	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73773913	1.00[EUR][1000 genomes]
rs73773915	1.00[EUR][1000 genomes]
rs73773916	1.00[EUR][1000 genomes]
rs73773917	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv823146	chr5:95300912-95453557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	esv2757121	chr5:95304236-95539536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	esv34203	chr5:95310985-95452324	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
7	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 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	chr5:95419200-95437400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:95426600-95432000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:95426600-95432200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:95427800-95432800	Enhancers	NHEK	skin
5	chr5:95428400-95432400	Enhancers	Hela-S3	cervix
6	chr5:95428600-95432600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:95428600-95432600	Enhancers	HMEC	breast
8	chr5:95428800-95432000	Enhancers	Stomach Mucosa	stomach
9	chr5:95428800-95432200	Enhancers	HepG2	liver
10	chr5:95428800-95432600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:95429000-95433000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:95429000-95433200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:95430600-95454400	Weak transcription	Aorta	Aorta
14	chr5:95430800-95432000	Weak transcription	NHLF	lung
15	chr5:95430800-95432200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:95431000-95432000	Weak transcription	HSMMtube	muscle
17	chr5:95431000-95432200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:95431000-95432200	Weak transcription	Osteobl	bone
19	chr5:95431000-95437600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:95431200-95432200	Weak transcription	A549	lung
21	chr5:95431200-95437200	Weak transcription	Pancreas	Pancrea
22	chr5:95431600-95432600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:95431600-95432600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:95431600-95432800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:95431600-95433000	Enhancers	NHDF-Ad	bronchial
26	chr5:95431800-95432400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:95431800-95432400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:95431800-95432600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr5:95431800-95432600	Enhancers	Esophagus	oesophagus
30	chr5:95431800-95432600	Enhancers	HSMM	muscle
31	chr5:95431800-95433000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr5:95431800-95433000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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