Variant report

Variant	rs2389723
Chromosome Location	chr1:84883727-84883728
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11163955	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11163957	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11163958	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11163959	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11163960	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11163963	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12027418	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12029581	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12029668	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12030472	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12032962	0.87[ASN][1000 genomes]
rs12034438	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12036961	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12042338	0.81[ASN][1000 genomes]
rs12123671	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1246392	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12740453	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1340595	0.81[ASN][1000 genomes]
rs1506699	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1506700	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1542963	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1971350	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1981254	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1995643	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2063037	0.87[ASN][1000 genomes]
rs2066197	0.90[ASN][1000 genomes]
rs2104210	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2185486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3116415	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3116433	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3116435	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3121147	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35459071	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3768253	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs472601	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4907063	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4907064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4907070	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs507772	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs511339	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs528310	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs553775	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs601564	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6576700	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6576701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6576708	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6663802	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs676987	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs679725	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs925014	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs937840	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
2	esv3524495	chr1:84881864-84885862	ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv3524497	chr1:84882314-84885812	ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3452358	chr1:84882809-84884854	ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3452357	chr1:84882812-84884876	Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3524498	chr1:84882864-84884794	Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3524500	chr1:84882885-84884821	Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3524501	chr1:84882921-84884785	ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3524499	chr1:84882969-84884742	Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3452359	chr1:84882973-84884740	Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3524502	chr1:84882973-84884740	Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84881600-84884000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:84881600-84893000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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