Variant report

Variant	rs5751646
Chromosome Location	chr22:23746352-23746353
allele	A/G
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	REST	chr22:23745804-23747480	U87	brain:	n/a	chr22:23747036-23747049 chr22:23746781-23746794 chr22:23747029-23747049 chr22:23747024-23747037 chr22:23747033-23747046 chr22:23747029-23747049 chr22:23747029-23747049 chr22:23747031-23747039 chr22:23745935-23745955 chr22:23747067-23747087 chr22:23747029-23747043 chr22:23747067-23747087 chr22:23747030-23747048
2	REST	chr22:23746229-23746358	HepG2	liver:	n/a	n/a
3	REST	chr22:23746333-23747609	ECC-1	luminal epithelium:	n/a	chr22:23747036-23747049 chr22:23746781-23746794 chr22:23747029-23747049 chr22:23747024-23747037 chr22:23747033-23747046 chr22:23747029-23747049 chr22:23747029-23747049 chr22:23747031-23747039 chr22:23747067-23747087 chr22:23747029-23747043 chr22:23747067-23747087 chr22:23747030-23747048
4	REST	chr22:23746045-23746381	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:23745391..23747934-chr22:23759747..23762327,2	MCF-7	breast:

Variant related genes	Relation type
ZDHHC8P1	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11090244	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1807113	0.86[CEU][hapmap]
rs2016842	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2077052	0.90[ASN][1000 genomes]
rs2154591	0.97[ASN][1000 genomes]
rs2330452	0.97[ASN][1000 genomes]
rs2330456	0.97[ASN][1000 genomes]
rs2877150	0.97[ASN][1000 genomes]
rs4822391	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4822394	0.80[EUR][1000 genomes]
rs4822395	0.97[ASN][1000 genomes]
rs4822396	0.97[ASN][1000 genomes]
rs4822397	0.81[EUR][1000 genomes]
rs4822398	0.97[ASN][1000 genomes]
rs4822399	0.97[ASN][1000 genomes]
rs4822400	0.97[ASN][1000 genomes]
rs4822401	0.81[EUR][1000 genomes]
rs4822404	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5751647	0.81[EUR][1000 genomes]
rs5751648	0.81[EUR][1000 genomes]
rs5751649	0.97[ASN][1000 genomes]
rs5759756	1.00[JPT][hapmap]
rs5759770	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs5759771	1.00[ASN][1000 genomes]
rs5759777	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5759780	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6003688	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9608142	0.81[EUR][1000 genomes]
rs9612343	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs9624138	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:23 , 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	nsv469702	chr22:23743640-23890756	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh 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	12 gene(s)	inside rSNPs	diseases
23	nsv482382	chr22:23743640-23890756	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23738800-23746400	Enhancers	Fetal Brain Male	brain
2	chr22:23744800-23747200	Weak transcription	Fetal Intestine Small	intestine
3	chr22:23745000-23754600	Weak transcription	Right Atrium	heart
4	chr22:23745400-23746800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr22:23745400-23747000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:23745400-23747000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:23745400-23747200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr22:23745400-23747200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr22:23745400-23747200	Weak transcription	Fetal Lung	lung
10	chr22:23745400-23747600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr22:23745400-23757400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr22:23745600-23746600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr22:23745600-23746600	Weak transcription	Fetal Thymus	thymus
14	chr22:23745600-23746600	Enhancers	K562	blood
15	chr22:23745600-23747600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr22:23745800-23747800	Weak transcription	Brain Germinal Matrix	brain
17	chr22:23746000-23746600	Enhancers	Gastric	stomach
18	chr22:23746200-23746400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr22:23746200-23746400	Enhancers	Colonic Mucosa	Colon
20	chr22:23746200-23746400	ZNF genes & repeats	Spleen	Spleen
21	chr22:23746200-23747000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr22:23746200-23747400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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