Variant report

Variant	rs10965001
Chromosome Location	chr9:21450844-21450845
allele	C/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	ESR1	chr9:21450813-21451767	T-47D	breast:	n/a	n/a
2	ESR1	chr9:21450796-21451306	T-47D	breast:	n/a	n/a
3	ESR1	chr9:21450772-21451831	T-47D	breast:	n/a	n/a
4	ESR1	chr9:21450763-21451830	T-47D	breast:	n/a	n/a
5	EP300	chr9:21450800-21451375	T-47D	breast:	n/a	n/a
6	ESR1	chr9:21450811-21451288	T-47D	breast:	n/a	n/a
7	CEBPB	chr9:21450742-21451060	IMR90	lung:	n/a	chr9:21450902-21450913
8	CEBPB	chr9:21450783-21450983	H1-hESC	embryonic stem cell:	n/a	chr9:21450902-21450913
9	YY1	chr9:21450795-21451066	H1-hESC	embryonic stem cell:	n/a	chr9:21450947-21450959
10	EP300	chr9:21450805-21451140	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr9:21450737-21451128	Hela-S3	cervix:	n/a	chr9:21450902-21450913
12	CEBPB	chr9:21450822-21451017	HepG2	liver:	n/a	chr9:21450902-21450913

Variant related genes	Relation type
IFNWP19	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10811546	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10811570	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10965000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10965012	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10965013	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10965017	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10965018	1.00[EUR][1000 genomes]
rs10965020	1.00[EUR][1000 genomes]
rs10965021	1.00[EUR][1000 genomes]
rs10965022	1.00[EUR][1000 genomes]
rs10965023	1.00[EUR][1000 genomes]
rs10965032	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10965033	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10965037	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10965045	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10965051	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11532905	1.00[EUR][1000 genomes]
rs12003405	0.83[ASN][1000 genomes]
rs12236551	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12551723	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12554691	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1412396	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1412397	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1537280	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1537281	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16938425	1.00[EUR][1000 genomes]
rs16938434	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2039381	1.00[EUR][1000 genomes]
rs4978119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7030231	0.96[ASN][1000 genomes]
rs7034161	0.82[ASN][1000 genomes]
rs7038604	0.97[ASN][1000 genomes]
rs7048384	0.95[ASN][1000 genomes]
rs9644820	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9644856	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9721887	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs991793	1.00[EUR][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	nsv892724	chr9:20690244-21517302	Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
2	esv2752289	chr9:21361957-21499624	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv466297	chr9:21391698-21507589	Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv613758	chr9:21391698-21507589	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv892739	chr9:21407250-21470520	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr9:21448400-21455400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:21449400-21453800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:21449600-21451400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:21449600-21453800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr9:21449800-21451000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:21449800-21453800	Weak transcription	NHEK	skin
7	chr9:21450000-21452800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr9:21450200-21453200	Weak transcription	HMEC	breast
9	chr9:21450400-21451400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:21450400-21451800	Enhancers	Hela-S3	cervix
11	chr9:21450400-21452800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:21450600-21453800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:21450800-21451000	Enhancers	Osteobl	bone
14	chr9:21450800-21451200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:21450800-21451400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr9:21450800-21451400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr9:21450800-21451400	Enhancers	Colon Smooth Muscle	Colon
18	chr9:21450800-21451400	Enhancers	A549	lung
19	chr9:21450800-21451600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr9:21450800-21451800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr9:21450800-21451800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr9:21450800-21451800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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