Variant report

Variant	rs7721265
Chromosome Location	chr5:95323882-95323883
allele	A/C
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	chr5:95323738-95324137	HepG2	liver:	n/a	n/a
2	SP1	chr5:95323637-95324199	HepG2	liver:	n/a	n/a
3	TEAD4	chr5:95323670-95324293	HepG2	liver:	n/a	n/a
4	MYBL2	chr5:95323600-95324287	HepG2	liver:	n/a	n/a
5	RAD21	chr5:95323788-95324241	HepG2	liver:	n/a	n/a
6	RXRA	chr5:95323790-95324161	HepG2	liver:	n/a	n/a
7	NFIC	chr5:95323798-95324209	HepG2	liver:	n/a	n/a
8	FOXA1	chr5:95323753-95324173	HepG2	liver:	n/a	n/a
9	HDAC2	chr5:95323797-95324156	HepG2	liver:	n/a	n/a
10	MBD4	chr5:95323730-95324302	HepG2	liver:	n/a	n/a
11	FOXA1	chr5:95323671-95325502	HepG2	liver:	n/a	chr5:95324610-95324622 chr5:95324819-95324831 chr5:95324931-95324943
12	NFIC	chr5:95323477-95325436	HepG2	liver:	n/a	n/a
13	HNF4A	chr5:95323756-95324143	HepG2	liver:	n/a	n/a
14	HNF4A	chr5:95323750-95324128	HepG2	liver:	n/a	n/a
15	HNF4G	chr5:95323850-95324148	HepG2	liver:	n/a	n/a
16	FOXA2	chr5:95322332-95325466	HepG2	liver:	n/a	chr5:95324610-95324622 chr5:95324819-95324831 chr5:95324931-95324943
17	EP300	chr5:95323651-95324322	HepG2	liver:	n/a	n/a
18	FOXA2	chr5:95323731-95324167	HepG2	liver:	n/a	n/a
19	ARID3A	chr5:95323723-95325371	HepG2	liver:	n/a	n/a
20	MAX	chr5:95323689-95325301	HepG2	liver:	n/a	n/a
21	FOXA1	chr5:95323638-95324193	HepG2	liver:	n/a	n/a
22	MYBL2	chr5:95323718-95324239	HepG2	liver:	n/a	n/a
23	EP300	chr5:95323721-95324170	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:95322628..95324639-chr5:95325581..95328091,2	K562	blood:
2	chr5:95315592..95318103-chr5:95322606..95324931,2	K562	blood:
3	chr5:95322876..95325746-chr5:95335508..95338099,2	K562	blood:

Variant related genes	Relation type
ENSG00000250955	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17085377	1.00[AMR][1000 genomes]
rs17085383	1.00[AMR][1000 genomes]
rs17085395	1.00[AMR][1000 genomes]
rs17085398	1.00[AMR][1000 genomes]
rs17085401	1.00[AMR][1000 genomes]
rs56771024	1.00[AMR][1000 genomes]
rs60920126	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6887424	1.00[AMR][1000 genomes]
rs73771808	1.00[AMR][1000 genomes]
rs73771810	1.00[AMR][1000 genomes]
rs73771813	1.00[AMR][1000 genomes]
rs73771840	1.00[AMR][1000 genomes]
rs7710262	1.00[AMR][1000 genomes]
rs7719338	1.00[AMR][1000 genomes]
rs7736347	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
2	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv823146	chr5:95300912-95453557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	esv2757121	chr5:95304236-95539536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	esv34203	chr5:95310985-95452324	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 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	chr5:95316800-95324000	Weak transcription	Gastric	stomach
2	chr5:95318200-95325000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:95318200-95327600	Enhancers	Fetal Intestine Small	intestine
4	chr5:95319600-95325600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr5:95320000-95327600	Enhancers	Fetal Intestine Large	intestine
6	chr5:95320600-95324800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:95320600-95330800	Weak transcription	HSMM	muscle
8	chr5:95321800-95324000	Enhancers	Duodenum Mucosa	Duodenum
9	chr5:95321800-95325000	Weak transcription	Aorta	Aorta
10	chr5:95321800-95325200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:95322200-95324800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:95322200-95324800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:95322800-95330800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:95322800-95331800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:95323000-95324600	Flanking Active TSS	Liver	Liver
16	chr5:95323200-95324000	Weak transcription	Pancreas	Pancrea
17	chr5:95323200-95324600	Weak transcription	Fetal Heart	heart
18	chr5:95323200-95325000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:95323200-95333000	Weak transcription	Stomach Mucosa	stomach
20	chr5:95323600-95325600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:95323800-95324400	Enhancers	HepG2	liver

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