Variant report

Variant	rs2332385
Chromosome Location	chr14:70914178-70914179
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	GATA2	chr14:70914006-70914260	SH-SY5Y	brain:	n/a	n/a
2	GATA3	chr14:70914006-70914237	T-47D	breast:	n/a	n/a
3	POLR2A	chr14:70914056-70914220	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
ADAM21	TF binding region

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10134376	0.89[MKK][hapmap];1.00[YRI][hapmap]
rs10140161	1.00[YRI][hapmap]
rs10140916	1.00[YRI][hapmap]
rs10140938	1.00[YRI][hapmap]
rs10141034	0.89[MKK][hapmap];1.00[YRI][hapmap]
rs10142875	1.00[YRI][hapmap]
rs10146573	1.00[YRI][hapmap]
rs10150618	1.00[YRI][hapmap]
rs10151236	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11158856	1.00[YRI][hapmap]
rs11621219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12431557	1.00[YRI][hapmap]
rs12433437	1.00[YRI][hapmap]
rs12434063	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12588332	0.91[YRI][hapmap]
rs2095806	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2275297	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs2275298	1.00[YRI][hapmap]
rs2332375	1.00[YRI][hapmap]
rs2332376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2332383	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2332386	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2332419	1.00[YRI][hapmap]
rs2332420	1.00[YRI][hapmap]
rs2877660	0.89[MKK][hapmap];1.00[YRI][hapmap]
rs3784155	1.00[YRI][hapmap]
rs4600398	0.88[YRI][hapmap]
rs55865251	1.00[EUR][1000 genomes]
rs56698163	1.00[EUR][1000 genomes]
rs57082239	1.00[EUR][1000 genomes]
rs57486211	1.00[EUR][1000 genomes]
rs57957300	1.00[EUR][1000 genomes]
rs58669540	1.00[EUR][1000 genomes]
rs59242599	1.00[EUR][1000 genomes]
rs59853961	1.00[EUR][1000 genomes]
rs60598858	1.00[EUR][1000 genomes]
rs6420899	1.00[YRI][hapmap]
rs6573950	1.00[YRI][hapmap]
rs6573951	1.00[YRI][hapmap]
rs6573952	1.00[YRI][hapmap]
rs6573954	1.00[YRI][hapmap]
rs6573956	1.00[YRI][hapmap]
rs6573957	1.00[YRI][hapmap]
rs6573958	0.89[MKK][hapmap];1.00[YRI][hapmap]
rs6573960	1.00[YRI][hapmap]
rs7144255	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7144371	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7145450	1.00[YRI][hapmap]
rs7148128	0.93[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7149261	0.91[YRI][hapmap]
rs7150558	0.89[MKK][hapmap];1.00[YRI][hapmap]
rs7155162	1.00[YRI][hapmap]
rs7155332	1.00[YRI][hapmap]
rs7155763	0.89[MKK][hapmap];1.00[YRI][hapmap]
rs7157399	0.90[YRI][hapmap]
rs7157430	1.00[YRI][hapmap]
rs7158117	1.00[YRI][hapmap]
rs7160707	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73282125	1.00[EUR][1000 genomes]
rs73282130	1.00[EUR][1000 genomes]
rs73282131	1.00[EUR][1000 genomes]
rs73282190	1.00[EUR][1000 genomes]
rs73282196	1.00[EUR][1000 genomes]
rs73283923	1.00[EUR][1000 genomes]
rs73283934	1.00[EUR][1000 genomes]
rs73283937	1.00[EUR][1000 genomes]
rs73283977	1.00[EUR][1000 genomes]
rs73283980	1.00[EUR][1000 genomes]
rs73283997	1.00[EUR][1000 genomes]
rs8007103	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs8013510	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8015825	0.93[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8016729	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8017274	0.81[YRI][hapmap]
rs8020995	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9323537	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70908400-70915800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr14:70908800-70921600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:70910600-70955600	Weak transcription	Left Ventricle	heart
4	chr14:70912000-70915400	Weak transcription	Small Intestine	intestine
5	chr14:70912800-70915400	Weak transcription	Psoas Muscle	Psoas
6	chr14:70913200-70914200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr14:70913200-70914200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:70913200-70921600	Weak transcription	Adipose Nuclei	Adipose
9	chr14:70913400-70914400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:70913400-70914400	Enhancers	HMEC	breast
11	chr14:70913800-70921400	Weak transcription	Ovary	ovary
12	chr14:70914000-70914400	Enhancers	NHEK	skin

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