Variant report

Variant	rs12030472
Chromosome Location	chr1:84893103-84893104
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84768924..84771219-chr1:84892574..84895571,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11163955	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11163957	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11163958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163959	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163960	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163963	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12027418	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12029581	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12029668	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12032962	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12034438	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12036961	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12042338	0.82[ASN][1000 genomes]
rs12123671	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1246392	0.89[ASN][1000 genomes]
rs12740453	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1340595	0.82[ASN][1000 genomes]
rs1506699	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1506700	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1542963	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1971350	0.90[ASN][1000 genomes]
rs1981254	0.91[ASN][1000 genomes]
rs1995643	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2063037	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2066197	0.91[ASN][1000 genomes]
rs2104210	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2185486	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2389723	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3116415	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3116433	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3116435	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3121147	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35459071	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3768253	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs472601	0.89[ASN][1000 genomes]
rs4907063	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4907064	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4907070	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs507772	0.91[ASN][1000 genomes]
rs511339	0.91[ASN][1000 genomes]
rs528310	0.89[ASN][1000 genomes]
rs553775	0.89[ASN][1000 genomes]
rs601564	0.85[ASN][1000 genomes]
rs6576700	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6576701	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6576702	0.93[ASN][1000 genomes]
rs6576708	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6663802	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs676987	0.91[ASN][1000 genomes]
rs679725	0.89[ASN][1000 genomes]
rs925014	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs937840	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84889000-84893200	Weak transcription	NHEK	skin
2	chr1:84889200-84893400	Weak transcription	Stomach Mucosa	stomach
3	chr1:84891400-84893200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:84892200-84893600	Enhancers	K562	blood
5	chr1:84892400-84893200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:84892400-84893400	Enhancers	HUVEC	blood vessel
7	chr1:84892400-84893600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:84892400-84895400	Enhancers	Hela-S3	cervix
9	chr1:84892600-84896000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:84892800-84893200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:84893000-84893600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:84893000-84893600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:84893000-84893600	Enhancers	HMEC	breast
14	chr1:84893000-84893600	Enhancers	NH-A	brain
15	chr1:84893000-84894200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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