Variant report

Variant	rs57646264
Chromosome Location	chr5:93400770-93400771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55957595	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59281012	1.00[AMR][1000 genomes]
rs59323020	1.00[AMR][1000 genomes]
rs59660668	1.00[AMR][1000 genomes]
rs60416738	1.00[AMR][1000 genomes]
rs73773556	1.00[AMR][1000 genomes]
rs73773590	1.00[AMR][1000 genomes]
rs73773600	1.00[AMR][1000 genomes]
rs73773617	1.00[AMR][1000 genomes]
rs73773619	1.00[AMR][1000 genomes]
rs73773620	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532196	chr5:92933949-93573527	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1023191	chr5:93351646-93947928	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv537808	chr5:93351646-93947928	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv2753025	chr5:93356544-93812844	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93380400-93403800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:93380600-93402600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:93380600-93403200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:93393600-93413000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:93398400-93402000	ZNF genes & repeats	Primary B cells from cord blood	blood
6	chr5:93398600-93402600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:93398800-93404200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:93398800-93430800	Weak transcription	Pancreas	Pancrea
9	chr5:93399200-93400800	Weak transcription	Left Ventricle	heart
10	chr5:93399200-93401200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chr5:93399200-93401200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
12	chr5:93399400-93400800	Weak transcription	Aorta	Aorta
13	chr5:93399400-93400800	Weak transcription	Fetal Thymus	thymus
14	chr5:93399400-93400800	Weak transcription	Gastric	stomach
15	chr5:93399400-93403800	Weak transcription	Esophagus	oesophagus
16	chr5:93400000-93401200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
17	chr5:93400200-93400800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr5:93400200-93401000	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr5:93400200-93401200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
20	chr5:93400400-93401400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:93400600-93401200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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