Variant report

Variant	rs61443428
Chromosome Location	chr22:31459127-31459128
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr22:31458744-31459135	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr22:31458645-31459214	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr22:31458936-31459129	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr22:31458723-31459233	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr22:31458756-31459194	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr22:31458609-31459232	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr22:31458733-31459220	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr22:31458800-31459203	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr22:31458741-31459181	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr22:31458577-31459311	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31450718..31452880-chr22:31457371..31459942,3	MCF-7	breast:
2	chr22:31363691..31369255-chr22:31456002..31460514,7	MCF-7	breast:
3	chr22:31457775..31462699-chr22:31474304..31478789,5	MCF-7	breast:
4	chr22:31364481..31367281-chr22:31457492..31460562,3	MCF-7	breast:
5	chr22:31363776..31366652-chr22:31458331..31460655,2	K562	blood:
6	chr22:31451720..31453462-chr22:31457824..31459739,2	MCF-7	breast:
7	chr22:31458274..31462644-chr22:31476246..31482425,10	K562	blood:
8	chr22:31455769..31462183-chr22:31475245..31482356,13	K562	blood:
9	chr22:31455775..31461842-chr22:31476267..31480955,13	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
SMTN	TF binding region
ENSG00000253352	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000133422	Chromatin interaction
ENSG00000273387	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11913101	0.98[AFR][1000 genomes]
rs34292278	0.85[AMR][1000 genomes]
rs57291990	0.85[AMR][1000 genomes]
rs57300566	0.98[AFR][1000 genomes]
rs58671664	0.85[AMR][1000 genomes]
rs61092468	0.99[AFR][1000 genomes]
rs61124312	0.85[AMR][1000 genomes]
rs61674975	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406159	0.81[AFR][1000 genomes]
rs73408118	0.85[AMR][1000 genomes]
rs73408133	0.83[AMR][1000 genomes]
rs73881308	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881309	1.00[AMR][1000 genomes]
rs8137917	1.00[AMR][1000 genomes]
rs8138862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8141062	0.81[AFR][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	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv524366	chr22:31440703-31480069	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv964620	chr22:31452981-31465140	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv962852	chr22:31455516-31465140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31456200-31460000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr22:31456200-31460000	Weak transcription	A549	lung
3	chr22:31456600-31461000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr22:31457000-31459200	Weak transcription	HepG2	liver
5	chr22:31457000-31465400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr22:31457800-31459400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr22:31458200-31459200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr22:31458200-31459400	Enhancers	NHEK	skin
9	chr22:31458200-31459600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr22:31458200-31459600	Enhancers	HMEC	breast
11	chr22:31458200-31459800	Enhancers	Fetal Intestine Large	intestine
12	chr22:31458400-31459800	Enhancers	Fetal Intestine Small	intestine
13	chr22:31458600-31459600	Weak transcription	Hela-S3	cervix
14	chr22:31458800-31465200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr22:31459000-31459200	Enhancers	K562	blood

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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