Variant report

Variant	rs528310
Chromosome Location	chr1:84869053-84869054
allele	A/T
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	chr1:84868777-84869394	HUVEC	blood vessel:	n/a	n/a
2	GATA3	chr1:84868697-84869289	SK-N-SH	brain:	n/a	chr1:84868754-84868763 chr1:84868754-84868763

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84859668..84862400-chr1:84868271..84869833,2	K562	blood:

Variant related genes	Relation type
DNASE2B	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11163955	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11163957	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11163958	0.89[ASN][1000 genomes]
rs11163959	0.89[ASN][1000 genomes]
rs11163960	0.89[ASN][1000 genomes]
rs11163963	0.89[ASN][1000 genomes]
rs12027418	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12029581	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12029668	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12030472	0.89[ASN][1000 genomes]
rs12032962	0.83[ASN][1000 genomes]
rs12034438	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12036961	0.89[ASN][1000 genomes]
rs12123671	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1246392	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12740453	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1506699	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1506700	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1542963	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1971350	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1981254	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1995643	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2063037	0.83[ASN][1000 genomes]
rs2066197	0.86[ASN][1000 genomes]
rs2104210	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2185486	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2389723	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3116415	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3116433	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3116435	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3121147	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35459071	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3768253	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs472601	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4907063	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4907064	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4907070	0.85[ASN][1000 genomes]
rs507772	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs511339	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs553775	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs601564	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6576700	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6576701	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6576702	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6576708	0.83[ASN][1000 genomes]
rs6663802	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs676987	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs679725	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs925014	0.83[ASN][1000 genomes]
rs937840	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84863000-84871200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:84867400-84869400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:84868000-84872200	Weak transcription	HUVEC	blood vessel
4	chr1:84868000-84872200	Weak transcription	NHDF-Ad	bronchial
5	chr1:84868600-84871200	Weak transcription	HMEC	breast
6	chr1:84868600-84872000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:84868600-84872000	Weak transcription	NHEK	skin
8	chr1:84868800-84869800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:84869000-84869400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr1:84869000-84872200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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