Variant report

Variant	rs10494280
Chromosome Location	chr1:152827652-152827653
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:152826667..152828678-chr1:152831968..152833911,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10494288	1.00[EUR][1000 genomes]
rs10888521	1.00[EUR][1000 genomes]
rs11205126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11205127	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11205128	0.80[CHD][hapmap];0.85[MEX][hapmap]
rs11205129	0.84[CHD][hapmap];0.92[MEX][hapmap]
rs11205130	1.00[EUR][1000 genomes]
rs11205131	1.00[CEU][hapmap]
rs11205147	1.00[EUR][1000 genomes]
rs11801996	0.82[CHD][hapmap];0.85[MEX][hapmap]
rs11806470	1.00[EUR][1000 genomes]
rs12021601	1.00[CEU][hapmap];0.82[CHD][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12022870	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12023643	1.00[EUR][1000 genomes]
rs12024694	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12026193	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12027736	0.88[AMR][1000 genomes]
rs12029192	1.00[EUR][1000 genomes]
rs12032522	1.00[EUR][1000 genomes]
rs12034091	1.00[CEU][hapmap]
rs12036697	1.00[EUR][1000 genomes]
rs12037754	1.00[CEU][hapmap]
rs12047099	1.00[EUR][1000 genomes]
rs12047630	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12047888	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12239808	1.00[CEU][hapmap]
rs12239812	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12239814	1.00[CEU][hapmap];0.92[MEX][hapmap]
rs12568299	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1415973	1.00[EUR][1000 genomes]
rs16834734	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs16834746	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16834751	1.00[CEU][hapmap]
rs16834838	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16834871	1.00[CEU][hapmap]
rs1974141	1.00[EUR][1000 genomes]
rs1995307	1.00[CEU][hapmap]
rs2339383	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2339396	0.91[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs2339397	0.91[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs2339398	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2339501	1.00[CEU][hapmap]
rs2879485	1.00[CEU][hapmap];0.92[MEX][hapmap]
rs36090881	1.00[EUR][1000 genomes]
rs3737862	1.00[CEU][hapmap];0.82[CHD][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3753452	1.00[EUR][1000 genomes]
rs4240862	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4240863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4240864	1.00[EUR][1000 genomes]
rs4845325	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap]
rs4845328	1.00[EUR][1000 genomes]
rs4845498	1.00[EUR][1000 genomes]
rs58021079	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58290373	1.00[EUR][1000 genomes]
rs59837747	1.00[EUR][1000 genomes]
rs60500053	1.00[EUR][1000 genomes]
rs60566199	0.90[AMR][1000 genomes]
rs61482767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61491150	1.00[EUR][1000 genomes]
rs6659798	0.91[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap]
rs6668295	1.00[EUR][1000 genomes]
rs7552416	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757755	chr1:152472839-152898153	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv2758970	chr1:152472839-152898153	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv427786	chr1:152572990-152898153	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv1013433	chr1:152619305-153262215	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	nsv535170	chr1:152619305-153262215	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
6	nsv1001834	chr1:152648853-153279143	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	nsv428521	chr1:152663153-152831578	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv547899	chr1:152672005-153245082	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
9	nsv999918	chr1:152749733-152861866	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1009885	chr1:152762750-152851273	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1010576	chr1:152791716-152827652	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv1000159	chr1:152809514-152853766	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1008447	chr1:152811171-152853748	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	esv2761937	chr1:152811183-152853760	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv831592	chr1:152815054-152997162	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152820000-152828000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:152826600-152829000	Enhancers	HSMMtube	muscle
3	chr1:152827400-152831400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:152827600-152831400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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