Variant report

Variant	rs5759770
Chromosome Location	chr22:23743499-23743500
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	NR3C1	chr22:23743242-23743910	A549	lung:	n/a	chr22:23743750-23743764
2	MAFK	chr22:23743382-23743745	IMR90	lung:	n/a	n/a
3	FOSL2	chr22:23743367-23743862	SK-N-SH	brain:	n/a	chr22:23743541-23743548
4	NR3C1	chr22:23743286-23743932	A549	lung:	n/a	chr22:23743750-23743764
5	TEAD4	chr22:23743242-23743923	SK-N-SH	brain:	n/a	n/a
6	NR3C1	chr22:23743367-23743865	A549	lung:	n/a	chr22:23743750-23743764
7	TEAD4	chr22:23743252-23743803	SK-N-SH	brain:	n/a	n/a
8	REST	chr22:23743387-23743658	SK-N-SH	brain:	n/a	n/a
9	MAX	chr22:23743271-23743769	SK-N-SH	brain:	n/a	n/a
10	CEBPB	chr22:23743400-23743695	IMR90	lung:	n/a	n/a
11	RCOR1	chr22:23743229-23743959	IMR90	lung:	n/a	n/a
12	NR3C1	chr22:23743433-23743888	A549	lung:	n/a	chr22:23743750-23743764
13	NR3C1	chr22:23743358-23743907	A549	lung:	n/a	chr22:23743750-23743764

No.	Distal block	Cell Line	Cell type
1	chr22:23737797..23740711-chr22:23742133..23744059,2	MCF-7	breast:
2	chr22:20255134..20257109-chr22:23743239..23744767,3	MCF-7	breast:
3	chr22:20255606..20257319-chr22:23743223..23746226,3	K562	blood:
4	chr22:20253259..20257319-chr22:23743216..23746275,4	K562	blood:

Variant related genes	Relation type
ZDHHC8P1	TF binding region
ENSG00000040608	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs2016842	1.00[ASN][1000 genomes]
rs2077052	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2154591	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2330452	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2330456	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2877150	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4822391	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4822395	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4822396	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4822398	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4822399	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4822400	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4822404	0.97[ASN][1000 genomes]
rs5751646	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs5751649	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5759756	1.00[JPT][hapmap]
rs5759771	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5759777	0.97[ASN][1000 genomes]
rs5759780	0.97[ASN][1000 genomes]
rs6003688	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs8135826	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8139944	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9624138	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1057659	chr22:23400739-24138788	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv9876	chr22:23563331-23923059	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv531550	chr22:23589667-24012550	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS 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	esv2762117	chr22:23592136-23996869	Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats 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	37 gene(s)	inside rSNPs	diseases
6	nsv1063476	chr22:23596683-23989388	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv544617	chr22:23596683-23989388	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv1059951	chr22:23597270-23973060	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv1060339	chr22:23603429-23984195	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	nsv544618	chr22:23603429-23984195	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv1059384	chr22:23614429-23984195	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
12	nsv544619	chr22:23614429-23984195	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv588601	chr22:23632665-23979219	Bivalent Enhancer Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv914579	chr22:23650987-23995056	Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	nsv1057910	chr22:23704457-23750847	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv914580	chr22:23720420-23757964	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv914581	chr22:23720420-23995056	Enhancers Active TSS Flanking Active TSS Weak transcription 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	29 gene(s)	inside rSNPs	diseases
18	nsv914582	chr22:23723721-23750847	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv914583	chr22:23723721-23752398	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv829099	chr22:23726903-23747505	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv914584	chr22:23729698-23774625	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	esv3438074	chr22:23743477-23746325	Bivalent Enhancer Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23726800-23744200	Weak transcription	Brain Anterior Caudate	brain
2	chr22:23728600-23744200	Weak transcription	Brain Angular Gyrus	brain
3	chr22:23728600-23744200	Weak transcription	Brain Hippocampus Middle	brain
4	chr22:23737800-23744200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr22:23738600-23744400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr22:23738800-23744200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr22:23738800-23744400	Weak transcription	Fetal Thymus	thymus
8	chr22:23738800-23746400	Enhancers	Fetal Brain Male	brain
9	chr22:23739400-23744200	Weak transcription	Pancreas	Pancrea
10	chr22:23740400-23743800	Weak transcription	Ovary	ovary
11	chr22:23740400-23744000	Enhancers	Placenta	Placenta
12	chr22:23740800-23744200	Weak transcription	Fetal Stomach	stomach
13	chr22:23741400-23743600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr22:23741400-23743600	Weak transcription	Fetal Intestine Small	intestine
15	chr22:23741400-23744200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr22:23741600-23744200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr22:23741600-23745000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr22:23741800-23743600	Enhancers	HMEC	breast
19	chr22:23742400-23743800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:23742400-23744000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr22:23742400-23744200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr22:23742400-23744400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr22:23742600-23743600	Enhancers	Brain Germinal Matrix	brain
24	chr22:23742600-23744400	Weak transcription	Esophagus	oesophagus
25	chr22:23742800-23743600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr22:23742800-23744000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr22:23742800-23744000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:23742800-23744200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr22:23742800-23744400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr22:23742800-23744400	Enhancers	NH-A	brain
31	chr22:23743000-23744000	Enhancers	Osteobl	bone
32	chr22:23743000-23744600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr22:23743200-23743600	Enhancers	Fetal Intestine Large	intestine
34	chr22:23743200-23744000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr22:23743400-23743800	Flanking Active TSS	Fetal Brain Female	brain
36	chr22:23743400-23744000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr22:23743400-23744000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr22:23743400-23744200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr22:23743400-23744200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr22:23743400-23744400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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