Variant report

Variant	rs9647180
Chromosome Location	chr21:40031924-40031925
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40030626..40032570-chr21:40036833..40038338,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1015069	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1015070	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1540015	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1540016	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2836613	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2836619	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836620	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs458783	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs459813	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs460112	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs460843	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs460947	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs461488	0.98[EUR][1000 genomes]
rs461592	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs463269	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs463501	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs463530	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs465004	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs465327	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62217514	0.92[EUR][1000 genomes]
rs6517476	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8132920	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8134664	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs994003	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9975531	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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	esv3398749	chr21:40030382-40034780	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3440316	chr21:40031607-40034455	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40028800-40034400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr21:40029800-40034600	Active TSS	Aorta	Aorta
3	chr21:40031200-40034400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:40031400-40033800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr21:40031600-40032000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
6	chr21:40031600-40032000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr21:40031800-40032000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
8	chr21:40031800-40032000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr21:40031800-40032000	Bivalent Enhancer	Thymus	Thymus
10	chr21:40031800-40032200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
11	chr21:40031800-40032200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr21:40031800-40032400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr21:40031800-40033000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr21:40031800-40033200	Bivalent/Poised TSS	Osteobl	bone
15	chr21:40031800-40033600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
16	chr21:40031800-40034000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr21:40031800-40034000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
18	chr21:40031800-40034000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
19	chr21:40031800-40034200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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