Variant report

Variant	rs12724819
Chromosome Location	chr1:76135362-76135363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76135232..76136937-chr1:76193196..76195615,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1146591	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1146631	1.00[JPT][hapmap]
rs12044025	1.00[YRI][hapmap]
rs12732407	1.00[ASN][1000 genomes]
rs12740253	1.00[ASN][1000 genomes]
rs12743235	1.00[ASN][1000 genomes]
rs12744608	1.00[YRI][hapmap]
rs12759535	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12759945	1.00[ASN][1000 genomes]
rs17848065	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34079902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34270172	1.00[ASN][1000 genomes]
rs34748623	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34892795	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34977392	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35283569	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35321712	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35416402	1.00[ASN][1000 genomes]
rs35424470	1.00[ASN][1000 genomes]
rs35505941	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35614774	1.00[ASN][1000 genomes]
rs35857029	1.00[ASN][1000 genomes]
rs35937370	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35961154	1.00[ASN][1000 genomes]
rs4335328	1.00[ASN][1000 genomes]
rs4472716	1.00[ASN][1000 genomes]
rs55764969	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55970724	1.00[ASN][1000 genomes]
rs57218288	1.00[ASN][1000 genomes]
rs57389460	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745317	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs5745328	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs5745332	1.00[ASN][1000 genomes]
rs5745352	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745355	1.00[ASN][1000 genomes]
rs5745362	1.00[ASN][1000 genomes]
rs5745368	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs5745369	1.00[ASN][1000 genomes]
rs5745376	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs5745380	1.00[ASN][1000 genomes]
rs5745391	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs5745403	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs5745425	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs5745428	1.00[ASN][1000 genomes]
rs5745434	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs5745438	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs71502707	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71656849	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71656851	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71656852	1.00[ASN][1000 genomes]
rs71656854	1.00[ASN][1000 genomes]
rs71656855	1.00[ASN][1000 genomes]
rs71656857	1.00[ASN][1000 genomes]
rs71656858	1.00[ASN][1000 genomes]
rs74089618	1.00[ASN][1000 genomes]
rs74089619	1.00[ASN][1000 genomes]
rs7548991	1.00[YRI][hapmap]
rs9660848	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757737	chr1:75986904-76187748	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2758943	chr1:75986904-76187748	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv427675	chr1:76070382-76187748	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv2756846	chr1:76083408-76156986	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv870520	chr1:76088392-76206490	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv945914	chr1:76109781-76172388	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3500167	chr1:76132764-76136162	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3500169	chr1:76133214-76136012	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76129200-76136400	Weak transcription	HepG2	liver
2	chr1:76131200-76137600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:76133800-76136600	Weak transcription	K562	blood

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