Variant report

Variant	rs12204989
Chromosome Location	chr6:73412747-73412748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10455268	1.00[CHB][hapmap]
rs10484913	1.00[CEU][hapmap];1.00[CHB][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]
rs10485213	0.90[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943048	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943050	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10943051	0.90[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943057	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943058	1.00[ASN][1000 genomes]
rs11759937	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189933	1.00[CHB][hapmap]
rs12189974	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12191039	1.00[ASN][1000 genomes]
rs12191216	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12191848	1.00[ASN][1000 genomes]
rs12192751	1.00[ASN][1000 genomes]
rs12194741	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12195259	1.00[ASN][1000 genomes]
rs12197962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199549	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12200468	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs12200908	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12201380	1.00[ASN][1000 genomes]
rs12204139	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12205374	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12205834	0.84[EUR][1000 genomes]
rs12208053	1.00[CHB][hapmap]
rs12208907	0.90[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210850	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12211580	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12212268	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12212419	1.00[ASN][1000 genomes]
rs12212562	1.00[CHB][hapmap]
rs12212818	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12214894	1.00[CHB][hapmap]
rs12214895	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12215865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12374630	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12374631	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17692715	1.00[CHB][hapmap]
rs17692874	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs17692898	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs17729195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17749408	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs17749420	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs17796704	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1928153	1.00[ASN][1000 genomes]
rs55633371	0.84[EUR][1000 genomes]
rs55826353	0.85[EUR][1000 genomes]
rs56254477	0.84[EUR][1000 genomes]
rs56316829	0.85[EUR][1000 genomes]
rs62411975	0.82[EUR][1000 genomes]
rs62411984	0.85[EUR][1000 genomes]
rs62411986	1.00[ASN][1000 genomes]
rs62411990	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453591	1.00[CHB][hapmap]
rs6922524	0.84[EUR][1000 genomes]
rs6922932	0.84[EUR][1000 genomes]
rs6931918	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6935174	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72935423	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7748594	1.00[ASN][1000 genomes]
rs7768673	1.00[CHB][hapmap]
rs7772197	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776215	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3347486	chr6:73283590-73445976	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv1794408	chr6:73363298-73419987	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv830689	chr6:73385557-73544404	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv830690	chr6:73391428-73574304	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73382800-73414200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:73392400-73429800	Weak transcription	HSMM	muscle
3	chr6:73399400-73419200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:73399400-73429200	Weak transcription	Aorta	Aorta
5	chr6:73399400-73438200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:73412000-73412800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr6:73412000-73413200	Enhancers	K562	blood
8	chr6:73412200-73413200	Enhancers	Fetal Heart	heart
9	chr6:73412200-73413600	Strong transcription	Primary B cells from cord blood	blood
10	chr6:73412400-73413000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:73412400-73413200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:73412600-73412800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:73412600-73412800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr6:73412600-73413000	Enhancers	GM12878-XiMat	blood

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