Variant report

Variant	rs4982192
Chromosome Location	chr14:35101785-35101786
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35101583..35104569-chr14:35180273..35182776,2	K562	blood:
2	chr14:35091495..35095564-chr14:35101048..35103200,4	MCF-7	breast:
3	chr14:35021714..35023981-chr14:35099677..35102492,2	MCF-7	breast:

Extended variants
information (count: 73 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10129588	0.81[EUR][1000 genomes]
rs10130504	0.85[CEU][hapmap]
rs10134877	0.93[YRI][hapmap]
rs10134991	0.85[CEU][hapmap]
rs10140153	0.82[ASN][1000 genomes]
rs10145193	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150782	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10151057	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151255	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151653	0.82[EUR][1000 genomes]
rs10151959	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10431614	0.93[CEU][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes]
rs10872888	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10872889	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11156848	0.85[CEU][hapmap];0.84[TSI][hapmap]
rs11156851	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11629253	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11847241	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847568	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11850430	0.84[EUR][1000 genomes]
rs12147949	0.93[CEU][hapmap];0.81[TSI][hapmap]
rs12431530	0.83[EUR][1000 genomes]
rs12879294	0.89[EUR][1000 genomes]
rs12881535	0.85[ASN][1000 genomes]
rs12883981	1.00[CEU][hapmap]
rs12884300	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12888994	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12895457	1.00[CEU][hapmap]
rs28688993	0.87[EUR][1000 genomes]
rs34939235	0.85[EUR][1000 genomes]
rs35239119	0.88[EUR][1000 genomes]
rs36068893	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809450	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809451	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809452	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3923104	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3958	1.00[CEU][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes]
rs4268668	0.93[CEU][hapmap];0.84[TSI][hapmap]
rs4312221	0.95[EUR][1000 genomes]
rs4347522	0.85[EUR][1000 genomes]
rs4424827	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4479126	0.89[EUR][1000 genomes]
rs4982194	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982195	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982197	0.87[ASN][1000 genomes]
rs4982198	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56065726	0.84[ASN][1000 genomes]
rs61553463	0.88[EUR][1000 genomes]
rs61979724	0.88[EUR][1000 genomes]
rs6571668	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6650498	0.88[EUR][1000 genomes]
rs7144356	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144711	0.92[CEU][hapmap]
rs7153918	0.82[EUR][1000 genomes]
rs7161203	1.00[CEU][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes]
rs7161260	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675279	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8008650	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8019556	0.96[CEU][hapmap];0.81[TSI][hapmap]
rs8021267	0.82[EUR][1000 genomes]
rs9264	1.00[CEU][hapmap]
rs9635193	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9652316	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1038360	chr14:35040853-35152886	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3408652	chr14:35069966-35110821	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv523334	chr14:35075022-35131862	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv1237	chr14:35101202-35129546	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv901601	chr14:35101785-35131862	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4982192	EAPP	cis	cerebellum	SCAN
rs4982192	EAPP	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35099800-35102200	Enhancers	Fetal Intestine Small	intestine
2	chr14:35099800-35103000	Weak transcription	K562	blood
3	chr14:35099800-35104000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:35100000-35103200	Weak transcription	A549	lung
5	chr14:35100000-35103200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr14:35100000-35103800	Weak transcription	NHLF	lung
7	chr14:35101000-35101800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:35101600-35101800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr14:35101600-35101800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:35101600-35102000	Enhancers	Hela-S3	cervix
11	chr14:35101600-35102000	Bivalent Enhancer	HepG2	liver

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