Variant report

Variant	rs9621420
Chromosome Location	chr22:32661831-32661832
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	CTCF	chr22:32661786-32662685	A549	lung:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
2	CTCF	chr22:32661793-32662773	SK-N-SH	brain:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
3	RAD21	chr22:32661817-32662761	SK-N-SH	brain:	n/a	chr22:32662329-32662348 chr22:32662331-32662343

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:32601130..32602920-chr22:32660025..32662874,2	MCF-7	breast:
2	chr22:32598096..32598999-chr22:32661829..32662840,5	MCF-7	breast:

Variant related genes	Relation type
CPSF1P1	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs56240204	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv2830423	chr22:32477718-32767825	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv834178	chr22:32490449-32677521	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active 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	40 gene(s)	inside rSNPs	diseases
8	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
9	esv2753006	chr22:32592120-32719481	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32657600-32665400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:32661600-32662000	Enhancers	Fetal Intestine Large	intestine
3	chr22:32661600-32662200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr22:32661600-32662200	Enhancers	A549	lung
5	chr22:32661600-32665600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr22:32661800-32662000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr22:32661800-32662000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr22:32661800-32662000	Enhancers	Osteobl	bone
9	chr22:32661800-32662200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr22:32661800-32662200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:32661800-32662200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr22:32661800-32662200	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr22:32661800-32662200	Enhancers	Fetal Intestine Small	intestine
14	chr22:32661800-32662200	Enhancers	Small Intestine	intestine
15	chr22:32661800-32662200	Enhancers	HSMM	muscle
16	chr22:32661800-32662400	Active TSS	Stomach Smooth Muscle	stomach
17	chr22:32661800-32662400	Enhancers	HUVEC	blood vessel
18	chr22:32661800-32662600	Enhancers	Liver	Liver
19	chr22:32661800-32662600	Enhancers	HepG2	liver
20	chr22:32661800-32662800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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