Variant report

Variant	rs12705402
Chromosome Location	chr7:106721919-106721920
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	GATA1	chr7:106718493-106722997	K562	blood:	n/a	chr7:106719817-106719827 chr7:106722555-106722563 chr7:106720073-106720080 chr7:106719819-106719826 chr7:106720073-106720080 chr7:106719819-106719826 chr7:106719812-106719833 chr7:106720073-106720080 chr7:106718961-106718982 chr7:106721892-106721899 chr7:106719819-106719826 chr7:106720707-106720717 chr7:106719430-106719439

Variant related genes	Relation type
ENSG00000243193	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10281856	0.83[JPT][hapmap]
rs10953528	0.91[ASN][1000 genomes]
rs12667954	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12669339	0.91[ASN][1000 genomes]
rs12674011	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12705403	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1860803	0.83[JPT][hapmap]
rs2237652	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2237654	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2237656	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2237657	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2283037	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2302453	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3735613	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3801969	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs62483580	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62483581	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6466157	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6466158	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6952920	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6969719	0.82[JPT][hapmap]
rs717099	0.83[JPT][hapmap]
rs741008	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7790497	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7809330	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs917760	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9648946	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831087	chr7:106673465-106872460	Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer 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
2	nsv608072	chr7:106718347-106753248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106717600-106722600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr7:106718000-106730600	Weak transcription	Fetal Brain Female	brain
3	chr7:106718800-106727800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:106719400-106723800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:106719400-106730400	Weak transcription	Fetal Brain Male	brain
6	chr7:106719400-106734200	Weak transcription	Brain Anterior Caudate	brain
7	chr7:106719800-106730600	Weak transcription	Brain Germinal Matrix	brain
8	chr7:106720200-106727000	Weak transcription	Pancreas	Pancrea
9	chr7:106720400-106723800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:106720800-106722200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:106720800-106730600	Weak transcription	Lung	lung
12	chr7:106720800-106730800	Weak transcription	Fetal Stomach	stomach
13	chr7:106721000-106722200	Weak transcription	Spleen	Spleen
14	chr7:106721000-106730200	Weak transcription	Fetal Heart	heart
15	chr7:106721200-106722600	Genic enhancers	K562	blood
16	chr7:106721800-106730600	Weak transcription	Brain Inferior Temporal Lobe	brain

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