Variant report

Variant	rs6693324
Chromosome Location	chr1:224073568-224073569
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	chr1:224064879..224067819-chr1:224073518..224075866,3	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10799327	0.95[CEU][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10915882	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10915892	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10915917	0.95[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10915946	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10915948	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10915950	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10915956	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1124943	0.89[CEU][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11801971	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11802505	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11806886	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12021759	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12021785	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12024535	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12026098	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12026835	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12027539	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12030094	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12038299	0.80[CEU][hapmap]
rs12040633	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs12042503	0.81[EUR][1000 genomes]
rs12044552	0.82[EUR][1000 genomes]
rs12045776	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12730520	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12731254	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12745879	0.81[EUR][1000 genomes]
rs12747926	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17559050	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17559134	0.80[JPT][hapmap]
rs2014441	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2126389	1.00[CEU][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2169459	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34124959	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35634773	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3856161	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4653644	1.00[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4653645	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4653775	0.81[CEU][hapmap]
rs56280097	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59866505	0.82[EUR][1000 genomes]
rs61823593	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61823594	0.92[EUR][1000 genomes]
rs61823595	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6604732	0.82[EUR][1000 genomes]
rs6658752	0.95[CEU][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6677956	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6678103	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs6688246	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6702843	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs723999	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs745697	0.95[CEU][hapmap];0.94[CHB][hapmap];0.80[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7516059	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7519753	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs7533614	0.95[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7554109	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9728094	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv1793921	chr1:224048131-224105965	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv1817834	chr1:224052449-224095114	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1803377	chr1:224052449-224108920	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv522556	chr1:224061898-224075483	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1818074	chr1:224069625-224092240	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224064200-224074400	Weak transcription	K562	blood
2	chr1:224072200-224076000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:224072200-224077000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:224072400-224076000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:224073000-224077400	Enhancers	Liver	Liver
6	chr1:224073200-224074400	Enhancers	Pancreas	Pancrea
7	chr1:224073400-224075000	Enhancers	HepG2	liver

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