Variant report

Variant	rs2282070
Chromosome Location	chr9:72434239-72434240
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	EP300	chr9:72433843-72434424	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr9:72433388-72434466	SK-N-SH	brain:	n/a	chr9:72433557-72433565
3	PBX3	chr9:72433627-72434270	SK-N-SH	brain:	n/a	n/a
4	EP300	chr9:72433556-72434314	SK-N-SH_RA	brain:	n/a	chr9:72433591-72433601
5	PBX3	chr9:72433605-72434283	SK-N-SH	brain:	n/a	n/a
6	TCF12	chr9:72433748-72434258	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr9:72433496-72434362	SK-N-SH	brain:	n/a	n/a
8	TEAD4	chr9:72433744-72434384	SK-N-SH	brain:	n/a	n/a
9	TEAD4	chr9:72433719-72434416	SK-N-SH	brain:	n/a	n/a
10	GATA3	chr9:72433496-72434357	SK-N-SH	brain:	n/a	chr9:72433557-72433565

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72425660..72428855-chr9:72433603..72435458,3	K562	blood:

Variant related genes	Relation type
C9orf135	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1004487	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10123781	0.93[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.84[JPT][hapmap];0.96[TSI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10283871	0.89[ASN][1000 genomes]
rs10780678	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10868150	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11140334	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11140360	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11140362	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11140368	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11140527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11140621	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11140722	1.00[CEU][hapmap];0.80[TSI][hapmap]
rs11791776	0.82[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11792259	0.93[CEU][hapmap];0.81[MEX][hapmap]
rs11793213	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11793793	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12235751	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17085361	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2150048	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2183380	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3949763	0.82[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4458931	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4744940	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4744941	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60429826	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7023103	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7042897	0.93[CEU][hapmap];0.81[MEX][hapmap]
rs72723210	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72723211	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7869694	1.00[CEU][hapmap];0.80[TSI][hapmap]
rs9792493	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050920	chr9:72345297-72579301	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking 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	18 gene(s)	inside rSNPs	diseases
2	nsv831611	chr9:72361905-72512134	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv893438	chr9:72363992-72720438	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72424800-72435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:72432400-72435200	Weak transcription	Fetal Thymus	thymus
3	chr9:72432600-72435400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:72432600-72435400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr9:72432600-72435400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr9:72432600-72435400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:72432600-72435400	Weak transcription	Stomach Mucosa	stomach
8	chr9:72432600-72435400	Weak transcription	NH-A	brain
9	chr9:72432800-72435200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:72433400-72434400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:72433600-72434400	Enhancers	Osteobl	bone
12	chr9:72433600-72435200	Enhancers	Primary T cells from cord blood	blood
13	chr9:72433800-72435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:72434000-72434400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:72434000-72435400	Weak transcription	Right Atrium	heart
16	chr9:72434200-72434600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:72434200-72435600	Weak transcription	Fetal Lung	lung

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