Variant report

Variant	rs17165220
Chromosome Location	chr5:126419753-126419754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126408605..126411145-chr5:126418243..126420941,2	K562	blood:

Variant related genes	Relation type
ENSG00000164241	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11241915	1.00[ASN][1000 genomes]
rs12655006	0.86[AFR][1000 genomes]
rs12655726	0.86[AFR][1000 genomes]
rs17165223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17165234	0.86[AFR][1000 genomes]
rs17839706	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2240529	0.89[ASN][1000 genomes]
rs2240530	0.81[ASN][1000 genomes]
rs4141169	0.86[AFR][1000 genomes]
rs55736801	1.00[ASN][1000 genomes]
rs55780389	0.89[ASN][1000 genomes]
rs55807699	1.00[ASN][1000 genomes]
rs55887767	0.89[ASN][1000 genomes]
rs55926617	0.89[ASN][1000 genomes]
rs55958512	0.89[ASN][1000 genomes]
rs56102558	0.89[ASN][1000 genomes]
rs57273792	0.89[ASN][1000 genomes]
rs57394214	1.00[ASN][1000 genomes]
rs57448612	0.89[ASN][1000 genomes]
rs57496473	0.89[ASN][1000 genomes]
rs59022768	1.00[ASN][1000 genomes]
rs59255338	0.89[ASN][1000 genomes]
rs59584486	1.00[ASN][1000 genomes]
rs59722252	0.89[ASN][1000 genomes]
rs60381307	1.00[ASN][1000 genomes]
rs60503756	0.86[ASN][1000 genomes]
rs61137046	0.89[ASN][1000 genomes]
rs61563447	0.89[ASN][1000 genomes]
rs61563838	1.00[ASN][1000 genomes]
rs73783494	0.89[ASN][1000 genomes]
rs73783499	0.89[ASN][1000 genomes]
rs73783500	0.89[ASN][1000 genomes]
rs73783511	0.89[ASN][1000 genomes]
rs73783517	1.00[ASN][1000 genomes]
rs73783518	1.00[ASN][1000 genomes]
rs73783519	1.00[ASN][1000 genomes]
rs73783522	1.00[ASN][1000 genomes]
rs73786208	0.89[ASN][1000 genomes]
rs73786211	0.89[ASN][1000 genomes]
rs73786236	0.89[ASN][1000 genomes]
rs73786237	0.89[ASN][1000 genomes]
rs73786243	0.89[ASN][1000 genomes]
rs73786248	0.89[ASN][1000 genomes]
rs73786254	0.89[ASN][1000 genomes]
rs73786256	0.89[ASN][1000 genomes]
rs73786257	0.89[ASN][1000 genomes]
rs73786289	0.89[ASN][1000 genomes]
rs73786297	0.89[ASN][1000 genomes]
rs73786300	0.89[ASN][1000 genomes]
rs73786301	0.89[ASN][1000 genomes]
rs73786302	0.89[ASN][1000 genomes]
rs73787405	0.89[ASN][1000 genomes]
rs73787409	0.89[ASN][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	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription 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	15 gene(s)	inside rSNPs	diseases
2	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv1816248	chr5:126399039-126486539	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr5:126412600-126427400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:126413600-126421800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:126413600-126424000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:126413600-126428000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:126416200-126420800	Weak transcription	NHEK	skin
6	chr5:126416200-126423600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:126416400-126420400	Weak transcription	K562	blood
8	chr5:126416400-126421200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:126416400-126421800	Weak transcription	Fetal Intestine Small	intestine
10	chr5:126416800-126421000	Weak transcription	HMEC	breast
11	chr5:126416800-126421800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:126416800-126428200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:126417000-126421000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:126417000-126421400	Weak transcription	Fetal Intestine Large	intestine
15	chr5:126419200-126424800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:126419400-126420400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:126419400-126428000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:126419600-126419800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:126419600-126419800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:126419600-126421600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:126419600-126424600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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