Variant report

Variant	rs2070442
Chromosome Location	chr22:23745925-23745926
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	REST	chr22:23745868-23746126	PANC-1	pancreas:	n/a	chr22:23745935-23745955
2	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
3	REST	chr22:23745889-23746067	HepG2	liver:	n/a	chr22:23745935-23745955

No.	Distal block	Cell Line	Cell type
1	chr22:23745391..23747934-chr22:23759747..23762327,2	MCF-7	breast:
2	chr22:20255606..20257319-chr22:23743223..23746226,3	K562	blood:
3	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: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13054049	0.95[ASN][1000 genomes]
rs2070441	0.97[ASN][1000 genomes]
rs41277535	0.95[ASN][1000 genomes]
rs58741550	0.95[ASN][1000 genomes]
rs59539020	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61271590	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73392657	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73392660	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs743353	0.95[ASN][1000 genomes]
rs743354	0.95[ASN][1000 genomes]
rs743355	0.95[ASN][1000 genomes]
rs743356	0.95[ASN][1000 genomes]
rs8140608	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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
23	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
24	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23738800-23746400	Enhancers	Fetal Brain Male	brain
2	chr22:23744800-23746000	Enhancers	Primary hematopoietic stem cells	blood
3	chr22:23744800-23746000	Weak transcription	Gastric	stomach
4	chr22:23744800-23747200	Weak transcription	Fetal Intestine Small	intestine
5	chr22:23745000-23754600	Weak transcription	Right Atrium	heart
6	chr22:23745200-23746200	Weak transcription	Spleen	Spleen
7	chr22:23745400-23746200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:23745400-23746200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:23745400-23746200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr22:23745400-23746200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:23745400-23746800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr22:23745400-23747000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr22:23745400-23747000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr22:23745400-23747200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr22:23745400-23747200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr22:23745400-23747200	Weak transcription	Fetal Lung	lung
17	chr22:23745400-23747600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr22:23745400-23757400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr22:23745600-23746000	Weak transcription	Pancreas	Pancrea
20	chr22:23745600-23746200	Weak transcription	Colonic Mucosa	Colon
21	chr22:23745600-23746600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr22:23745600-23746600	Weak transcription	Fetal Thymus	thymus
23	chr22:23745600-23746600	Enhancers	K562	blood
24	chr22:23745600-23747600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr22:23745800-23747800	Weak transcription	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links