Variant report

Variant	rs73154894
Chromosome Location	chr7:100132741-100132742
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr7:100132402-100132776	K562	blood:	n/a	n/a
2	TAL1	chr7:100132726-100132926	K562	blood:	n/a	n/a
3	RCOR1	chr7:100132660-100132921	K562	blood:	n/a	n/a
4	TEAD4	chr7:100132206-100132786	HepG2	liver:	n/a	n/a
5	FOXA2	chr7:100132445-100132778	HepG2	liver:	n/a	n/a
6	HNF4G	chr7:100132441-100132770	HepG2	liver:	n/a	chr7:100132590-100132605
7	FOXA1	chr7:100132430-100132805	HepG2	liver:	n/a	n/a
8	TEAD4	chr7:100132534-100132975	K562	blood:	n/a	n/a
9	FOXA1	chr7:100132454-100132809	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:100132653-100132745	HepG2	liver:	n/a	n/a
11	FOXA1	chr7:100132349-100132858	HepG2	liver:	n/a	n/a
12	RCOR1	chr7:100132673-100132861	K562	blood:	n/a	n/a
13	EP300	chr7:100132697-100132947	K562	blood:	n/a	n/a
14	EP300	chr7:100132320-100132792	HepG2	liver:	n/a	chr7:100132552-100132566

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100108459..100110759-chr7:100131246..100132938,2	K562	blood:
2	chr7:100128988..100134344-chr7:100134400..100137956,7	K562	blood:
3	chr7:100120852..100122800-chr7:100131178..100133700,2	K562	blood:
4	chr7:100130677..100133486-chr7:100136070..100137956,3	K562	blood:
5	chr7:100080111..100082347-chr7:100132707..100134472,2	K562	blood:
6	chr7:100075625..100077241-chr7:100131134..100134107,2	K562	blood:
7	chr7:100127250..100129449-chr7:100131160..100133633,2	K562	blood:
8	chr7:100129499..100134064-chr7:100138871..100143432,7	K562	blood:

No data

Variant related genes	Relation type
AGFG2	TF binding region
RN7SL416P	TF binding region
ENSG00000106351	Chromatin interaction
ENSG00000242101	Chromatin interaction
ENSG00000166924	Chromatin interaction
ENSG00000266372	Chromatin interaction
ENSG00000166925	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11972116	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11977607	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11978096	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11978967	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154919	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216707	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406243	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34440977	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56307653	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58509206	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60668677	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60743967	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61309832	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61318457	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67147615	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67535650	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970240	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154884	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154887	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154891	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154895	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154897	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154902	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156207	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156208	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156210	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156211	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73711133	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73711136	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73711137	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7784759	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799695	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
4	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
5	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
6	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
7	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS 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 target site	81 gene(s)	inside rSNPs	diseases
8	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
9	nsv888783	chr7:100073292-100136241	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs73154894	SAP25	cis	Esophagus Muscularis	GTEx
rs73154894	SAP25	cis	Thyroid	GTEx
rs73154894	LRCH4	cis	Esophagus Muscularis	GTEx
rs73154894	SAP25	cis	Nerve Tibial	GTEx
rs73154894	SAP25	cis	Artery Tibial	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100091800-100136200	Weak transcription	Right Atrium	heart
2	chr7:100125800-100136000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:100129800-100136000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:100130000-100133000	Enhancers	Fetal Intestine Small	intestine
5	chr7:100131200-100136000	Weak transcription	Colonic Mucosa	Colon
6	chr7:100131200-100136000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:100131200-100136000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:100131400-100133800	Enhancers	K562	blood
9	chr7:100131400-100136000	Weak transcription	Stomach Mucosa	stomach
10	chr7:100131800-100136000	Weak transcription	Fetal Heart	heart
11	chr7:100132000-100133000	Enhancers	Liver	Liver
12	chr7:100132200-100136000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:100132400-100132800	Flanking Active TSS	HepG2	liver
14	chr7:100132400-100133000	Enhancers	Fetal Intestine Large	intestine

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