Variant report

Variant	rs16902651
Chromosome Location	chr5:35952453-35952454
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	chr5:35937839..35940394-chr5:35951140..35953423,2	K562	blood:
2	chr5:35952010..35954292-chr5:35955288..35957673,3	K562	blood:

Variant related genes	Relation type
ENSG00000249748	Chromatin interaction
ENSG00000152611	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10041865	1.00[EUR][1000 genomes]
rs10058723	1.00[EUR][1000 genomes]
rs10058960	1.00[EUR][1000 genomes]
rs10077553	1.00[EUR][1000 genomes]
rs10079517	1.00[EUR][1000 genomes]
rs10491432	1.00[EUR][1000 genomes]
rs10491433	1.00[EUR][1000 genomes]
rs11567717	1.00[EUR][1000 genomes]
rs11567730	1.00[EUR][1000 genomes]
rs11567764	1.00[EUR][1000 genomes]
rs11953540	1.00[MEX][hapmap]
rs1374015	1.00[EUR][1000 genomes]
rs1494570	1.00[EUR][1000 genomes]
rs16902514	1.00[EUR][1000 genomes]
rs16902535	1.00[EUR][1000 genomes]
rs16902557	1.00[EUR][1000 genomes]
rs16902562	1.00[EUR][1000 genomes]
rs16902592	1.00[EUR][1000 genomes]
rs16902593	1.00[EUR][1000 genomes]
rs16902594	1.00[EUR][1000 genomes]
rs16902616	1.00[MEX][hapmap]
rs16902638	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16902639	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16902643	1.00[EUR][1000 genomes]
rs16902650	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16902667	1.00[ASW][hapmap];1.00[MEX][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16902670	1.00[EUR][1000 genomes]
rs16902682	1.00[EUR][1000 genomes]
rs1965840	1.00[MEX][hapmap]
rs28756345	1.00[EUR][1000 genomes]
rs3913483	1.00[MEX][hapmap]
rs56665523	1.00[EUR][1000 genomes]
rs56773364	1.00[EUR][1000 genomes]
rs57273729	1.00[EUR][1000 genomes]
rs57498894	1.00[EUR][1000 genomes]
rs57579833	1.00[EUR][1000 genomes]
rs58168401	1.00[EUR][1000 genomes]
rs58457055	1.00[EUR][1000 genomes]
rs58872016	1.00[EUR][1000 genomes]
rs59714026	1.00[EUR][1000 genomes]
rs6451222	1.00[EUR][1000 genomes]
rs6861184	1.00[EUR][1000 genomes]
rs6864736	1.00[EUR][1000 genomes]
rs6875303	1.00[EUR][1000 genomes]
rs6876261	1.00[EUR][1000 genomes]
rs6881919	1.00[EUR][1000 genomes]
rs6894309	1.00[EUR][1000 genomes]
rs73076116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73076118	1.00[EUR][1000 genomes]
rs73076126	1.00[EUR][1000 genomes]
rs73076137	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73076149	1.00[EUR][1000 genomes]
rs73076151	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73076155	1.00[EUR][1000 genomes]
rs73076161	1.00[EUR][1000 genomes]
rs73076166	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73076168	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73076171	1.00[EUR][1000 genomes]
rs73076172	1.00[EUR][1000 genomes]
rs73076173	1.00[EUR][1000 genomes]
rs73076178	1.00[EUR][1000 genomes]
rs73076180	1.00[EUR][1000 genomes]
rs73076197	1.00[EUR][1000 genomes]
rs73076199	1.00[EUR][1000 genomes]
rs73078005	1.00[EUR][1000 genomes]
rs73078010	1.00[EUR][1000 genomes]
rs73078011	1.00[EUR][1000 genomes]
rs73078024	1.00[EUR][1000 genomes]
rs73086302	1.00[EUR][1000 genomes]
rs73088209	1.00[EUR][1000 genomes]
rs73088244	1.00[EUR][1000 genomes]
rs73090209	1.00[EUR][1000 genomes]
rs73090222	1.00[EUR][1000 genomes]
rs73090239	1.00[EUR][1000 genomes]
rs73090241	1.00[EUR][1000 genomes]
rs73090248	1.00[EUR][1000 genomes]
rs73090257	1.00[EUR][1000 genomes]
rs73090276	1.00[EUR][1000 genomes]
rs73090284	1.00[EUR][1000 genomes]
rs73090289	1.00[EUR][1000 genomes]
rs73090291	1.00[EUR][1000 genomes]
rs73090295	1.00[EUR][1000 genomes]
rs73090298	1.00[EUR][1000 genomes]
rs73092011	1.00[EUR][1000 genomes]
rs73092033	1.00[EUR][1000 genomes]
rs73092034	1.00[EUR][1000 genomes]
rs73092092	1.00[EUR][1000 genomes]
rs73092100	1.00[EUR][1000 genomes]
rs73094009	1.00[EUR][1000 genomes]
rs73094019	1.00[EUR][1000 genomes]
rs73094022	1.00[EUR][1000 genomes]
rs7701519	1.00[EUR][1000 genomes]
rs7704710	1.00[EUR][1000 genomes]
rs7708334	1.00[EUR][1000 genomes]
rs7710405	1.00[EUR][1000 genomes]
rs7714297	1.00[EUR][1000 genomes]
rs7720394	1.00[EUR][1000 genomes]
rs7724777	1.00[EUR][1000 genomes]
rs9292610	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471011	chr5:35861068-36003217	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv830261	chr5:35863084-36018048	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1025695	chr5:35902486-36036934	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16902651	RNF212	trans	lymphoblastoid	seeQTL
rs16902651	SLC39A4	trans	lymphoblastoid	seeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35950800-35953600	Weak transcription	Fetal Intestine Small	intestine
2	chr5:35950800-35953800	Weak transcription	Fetal Intestine Large	intestine
3	chr5:35951800-35952600	Enhancers	Fetal Lung	lung
4	chr5:35952000-35957600	Strong transcription	Liver	Liver
5	chr5:35952200-35953000	Enhancers	Fetal Stomach	stomach
6	chr5:35952400-35954200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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