Variant report

Variant	rs9370530
Chromosome Location	chr6:56261904-56261905
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	SETDB1	chr6:56260959-56262018	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56259833..56263186-chr6:56406056..56409060,3	K562	blood:

Variant related genes	Relation type
COL21A1	TF binding region
ENSG00000151914	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1008768	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1008769	0.90[CHB][hapmap];0.96[JPT][hapmap];0.89[ASN][1000 genomes]
rs1008770	0.91[ASN][1000 genomes]
rs1014740	0.96[ASN][1000 genomes]
rs1018414	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1018415	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11968073	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12205291	0.86[ASN][1000 genomes]
rs12528936	0.96[ASN][1000 genomes]
rs13206552	0.90[CHB][hapmap];0.96[JPT][hapmap];0.91[ASN][1000 genomes]
rs2143349	0.85[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2179519	0.99[ASN][1000 genomes]
rs2206528	1.00[CHB][hapmap];0.96[JPT][hapmap];0.97[ASN][1000 genomes]
rs2206530	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2397222	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2894836	0.93[ASN][1000 genomes]
rs35253323	0.93[ASN][1000 genomes]
rs4715621	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4715624	0.93[ASN][1000 genomes]
rs629057	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs629506	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs643246	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs646884	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs669656	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs669728	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs926530	0.80[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9296843	0.96[ASN][1000 genomes]
rs9349821	0.96[ASN][1000 genomes]
rs9370527	0.90[CHB][hapmap];0.96[JPT][hapmap];0.91[ASN][1000 genomes]
rs9382625	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9382627	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9382630	0.93[ASN][1000 genomes]
rs9396208	0.96[ASN][1000 genomes]
rs9396209	0.96[ASN][1000 genomes]
rs9942454	0.96[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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830666	chr6:56243743-56419599	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56247400-56263600	Weak transcription	Small Intestine	intestine
2	chr6:56253000-56282600	Weak transcription	Aorta	Aorta
3	chr6:56253600-56263000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:56253800-56263400	Weak transcription	Hela-S3	cervix
5	chr6:56258800-56263600	Enhancers	HepG2	liver
6	chr6:56259200-56264800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:56261600-56262400	Enhancers	Fetal Intestine Small	intestine
8	chr6:56261800-56265600	Enhancers	Fetal Intestine Large	intestine

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