Variant report

Variant	rs56173468
Chromosome Location	chr4:1104916-1104917
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:1070226..1072949-chr4:1104004..1105677,2	K562	blood:
2	chr4:1103766..1108037-chr4:1241801..1244610,3	K562	blood:
3	chr4:1104788..1106753-chr4:1236973..1238872,2	K562	blood:
4	chr4:1100612..1103193-chr4:1103837..1105848,2	K562	blood:

Variant related genes	Relation type
ENSG00000196810	Chromatin interaction
ENSG00000159692	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs35366709	0.81[AFR][1000 genomes]
rs55644007	1.00[AMR][1000 genomes]
rs55676333	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55752278	1.00[AMR][1000 genomes]
rs55759903	1.00[AMR][1000 genomes]
rs56047112	1.00[AMR][1000 genomes]
rs56265368	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57265466	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57280685	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59830952	1.00[AMR][1000 genomes]
rs61167830	1.00[AMR][1000 genomes]
rs73061799	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063716	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072277	1.00[AMR][1000 genomes]
rs73074159	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73792265	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73792270	1.00[AMR][1000 genomes]
rs73792282	1.00[AMR][1000 genomes]
rs73793104	1.00[AMR][1000 genomes]
rs73793105	1.00[AMR][1000 genomes]
rs73793106	1.00[AMR][1000 genomes]
rs73793108	1.00[AMR][1000 genomes]
rs73793931	1.00[AMR][1000 genomes]
rs73793932	1.00[AMR][1000 genomes]
rs73794431	1.00[AMR][1000 genomes]
rs73794432	1.00[AMR][1000 genomes]
rs73794435	1.00[AMR][1000 genomes]
rs73794436	1.00[AMR][1000 genomes]
rs73794437	1.00[AMR][1000 genomes]
rs73794438	1.00[AMR][1000 genomes]
rs73794439	1.00[AMR][1000 genomes]
rs7685842	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7686048	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1003219	chr4:769894-1105464	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv536980	chr4:827866-1167377	Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv1009619	chr4:901897-1215657	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1003876	chr4:927509-1191316	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1000381	chr4:927509-1198766	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	esv3339080	chr4:970630-1546223	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv1004727	chr4:1015652-1158207	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv536984	chr4:1015652-1158207	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv1005990	chr4:1015652-1167619	Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv1000594	chr4:1045099-1129975	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv1001165	chr4:1051512-1129975	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv1012892	chr4:1086871-1176630	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv829835	chr4:1097586-1304239	Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1094000-1105800	Weak transcription	Ovary	ovary
2	chr4:1101600-1105400	Weak transcription	Hela-S3	cervix
3	chr4:1102600-1105600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:1102600-1105800	Enhancers	Pancreas	Pancrea
5	chr4:1103600-1105600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:1104200-1105800	Enhancers	NHEK	skin
7	chr4:1104200-1107200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:1104400-1107000	Weak transcription	A549	lung
9	chr4:1104600-1106000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:1104600-1109600	Weak transcription	Fetal Kidney	kidney
11	chr4:1104800-1105000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
12	chr4:1104800-1106000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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