Variant report

Variant	rs57000847
Chromosome Location	chr5:179394810-179394811
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr5:179394398-179394961	HepG2	liver:	n/a	chr5:179394744-179394756
2	HNF4G	chr5:179394432-179394827	HepG2	liver:	n/a	chr5:179394499-179394517 chr5:179394501-179394516 chr5:179394502-179394515 chr5:179394594-179394609 chr5:179394592-179394607 chr5:179394594-179394608 chr5:179394501-179394515 chr5:179394595-179394608 chr5:179394595-179394607 chr5:179394594-179394609 chr5:179394502-179394514 chr5:179394501-179394514 chr5:179394594-179394609 chr5:179394592-179394610 chr5:179394594-179394609 chr5:179394595-179394607 chr5:179394502-179394514 chr5:179394594-179394609 chr5:179394502-179394514 chr5:179394501-179394516
3	FOXA1	chr5:179394357-179394868	HepG2	liver:	n/a	chr5:179394744-179394756
4	FOXA1	chr5:179394468-179394903	HepG2	liver:	n/a	chr5:179394744-179394756
5	FOXA1	chr5:179394482-179394934	HepG2	liver:	n/a	chr5:179394744-179394756

No.	Distal block	Cell Line	Cell type
1	chr5:179389315..179391014-chr5:179392894..179395690,2	K562	blood:
2	chr5:179394352..179395911-chr5:179396095..179398750,2	K562	blood:
3	chr5:179390256..179392099-chr5:179393364..179396130,2	K562	blood:

Variant related genes	Relation type
RNF130	TF binding region
ENSG00000249412	Chromatin interaction
ENSG00000113269	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10058037	1.00[EUR][1000 genomes]
rs13356823	1.00[EUR][1000 genomes]
rs13358321	1.00[EUR][1000 genomes]
rs156099	1.00[EUR][1000 genomes]
rs17079679	1.00[EUR][1000 genomes]
rs1960428	1.00[EUR][1000 genomes]
rs269459	1.00[EUR][1000 genomes]
rs269460	1.00[EUR][1000 genomes]
rs56821111	0.83[AMR][1000 genomes]
rs56844432	1.00[EUR][1000 genomes]
rs57141821	1.00[EUR][1000 genomes]
rs57356486	1.00[EUR][1000 genomes]
rs58007232	1.00[EUR][1000 genomes]
rs58225020	1.00[EUR][1000 genomes]
rs58271481	1.00[EUR][1000 genomes]
rs58586529	1.00[EUR][1000 genomes]
rs58899481	1.00[EUR][1000 genomes]
rs60407359	1.00[EUR][1000 genomes]
rs60822577	1.00[EUR][1000 genomes]
rs61330504	1.00[EUR][1000 genomes]
rs6874211	1.00[EUR][1000 genomes]
rs73810492	1.00[EUR][1000 genomes]
rs73810493	1.00[EUR][1000 genomes]
rs73810929	1.00[EUR][1000 genomes]
rs73810939	1.00[EUR][1000 genomes]
rs73810979	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
2	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
5	nsv830561	chr5:179365637-179537012	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
6	esv3412320	chr5:179391746-179395144	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179373400-179400600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:179373800-179401600	Weak transcription	Colonic Mucosa	Colon
3	chr5:179376600-179406600	Weak transcription	Psoas Muscle	Psoas
4	chr5:179380000-179410800	Weak transcription	Small Intestine	intestine
5	chr5:179380200-179401200	Weak transcription	Esophagus	oesophagus
6	chr5:179381000-179397000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:179381000-179397200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:179381000-179407800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:179381200-179396600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:179381200-179397200	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr5:179381200-179402200	Weak transcription	Fetal Heart	heart
12	chr5:179381200-179405600	Weak transcription	NHLF	lung
13	chr5:179381600-179411800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:179381800-179402200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:179382000-179401400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:179382200-179401400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:179382800-179400600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:179383200-179408600	Weak transcription	A549	lung
19	chr5:179385200-179397600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:179386000-179401000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr5:179386800-179397600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:179386800-179397600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:179387400-179395800	Weak transcription	K562	blood
24	chr5:179387800-179397000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr5:179387800-179397000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr5:179388000-179395000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:179388000-179397200	Strong transcription	Adipose Nuclei	Adipose
28	chr5:179388000-179397400	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr5:179388200-179396400	Strong transcription	Primary hematopoietic stem cells	blood
30	chr5:179388200-179397400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr5:179388200-179397600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:179388400-179397200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr5:179388400-179397200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr5:179388600-179396800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr5:179388600-179397200	Strong transcription	Fetal Stomach	stomach
36	chr5:179388600-179404000	Weak transcription	HMEC	breast
37	chr5:179388800-179405000	Weak transcription	HUVEC	blood vessel
38	chr5:179388800-179405800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr5:179389000-179405800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr5:179389200-179403400	Weak transcription	Hela-S3	cervix
41	chr5:179389400-179411400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:179389600-179397400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr5:179391200-179398200	Weak transcription	Fetal Thymus	thymus
44	chr5:179391200-179403800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:179391400-179395800	Weak transcription	Fetal Brain Male	brain
46	chr5:179391800-179396600	Strong transcription	Fetal Lung	lung
47	chr5:179391800-179396800	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr5:179391800-179406200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:179392000-179395000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr5:179392000-179396800	Strong transcription	HSMMtube	muscle

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