Variant report

Variant	rs10911628
Chromosome Location	chr1:184649503-184649504
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184649407..184651145-chr1:184654584..184656921,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10489697	0.91[EUR][1000 genomes]
rs10489698	0.87[CEU][hapmap]
rs10797985	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10911637	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12060621	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12067111	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12094196	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12096214	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16823413	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.91[EUR][1000 genomes]
rs16823421	0.87[EUR][1000 genomes]
rs16823429	0.87[EUR][1000 genomes]
rs2224092	0.91[EUR][1000 genomes]
rs35779894	1.00[JPT][hapmap]
rs489435	1.00[JPT][hapmap]
rs538337	1.00[JPT][hapmap]
rs55760657	0.83[EUR][1000 genomes]
rs55896922	0.83[EUR][1000 genomes]
rs56741490	0.87[EUR][1000 genomes]
rs569243	1.00[JPT][hapmap]
rs58465130	0.96[EUR][1000 genomes]
rs59085958	0.91[EUR][1000 genomes]
rs59347366	0.91[EUR][1000 genomes]
rs59634722	0.83[EUR][1000 genomes]
rs59862212	0.91[EUR][1000 genomes]
rs603160	1.00[JPT][hapmap]
rs61022402	0.91[EUR][1000 genomes]
rs61823870	0.81[EUR][1000 genomes]
rs61823871	0.81[EUR][1000 genomes]
rs61823873	0.83[EUR][1000 genomes]
rs61823876	0.83[EUR][1000 genomes]
rs61823879	0.93[EUR][1000 genomes]
rs61823880	0.91[EUR][1000 genomes]
rs61823882	0.91[EUR][1000 genomes]
rs61823885	0.91[EUR][1000 genomes]
rs61823891	0.91[EUR][1000 genomes]
rs61823908	0.91[EUR][1000 genomes]
rs641658	1.00[JPT][hapmap]
rs642027	1.00[JPT][hapmap]
rs861578	0.80[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Systemic lupus erythematosus	24871463	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184641400-184672800	Weak transcription	Gastric	stomach
2	chr1:184649400-184662800	Weak transcription	Osteobl	bone

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