Variant report

Variant	rs3910825
Chromosome Location	chr5:60125352-60125353
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60062138..60063887-chr5:60122646..60125586,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs16878535	1.00[AMR][1000 genomes]
rs16878537	1.00[AMR][1000 genomes]
rs16878539	1.00[AMR][1000 genomes]
rs16878544	1.00[AMR][1000 genomes]
rs4647074	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4647116	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4647131	0.81[AFR][1000 genomes]
rs55638584	1.00[AMR][1000 genomes]
rs55659107	1.00[AMR][1000 genomes]
rs56020025	1.00[AMR][1000 genomes]
rs56043434	1.00[AMR][1000 genomes]
rs56071223	1.00[AMR][1000 genomes]
rs56113732	1.00[AMR][1000 genomes]
rs56256328	1.00[AMR][1000 genomes]
rs56287212	1.00[AMR][1000 genomes]
rs56306823	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56320246	1.00[AMR][1000 genomes]
rs56376821	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56386934	1.00[AMR][1000 genomes]
rs57251027	1.00[AMR][1000 genomes]
rs57366470	1.00[AMR][1000 genomes]
rs57521420	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58930565	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60239490	1.00[AMR][1000 genomes]
rs6449516	1.00[AMR][1000 genomes]
rs6860439	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6869855	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6881713	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6881960	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6885974	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759411	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759415	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759422	1.00[AMR][1000 genomes]
rs73759426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759427	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759430	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759431	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759432	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759434	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759435	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759436	0.81[AFR][1000 genomes]
rs73759437	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759441	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759445	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759446	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759447	1.00[AMR][1000 genomes]
rs73759450	1.00[AMR][1000 genomes]
rs73759452	1.00[AMR][1000 genomes]
rs73759454	1.00[AMR][1000 genomes]
rs73759455	1.00[AMR][1000 genomes]
rs73759456	1.00[AMR][1000 genomes]
rs73759457	1.00[AMR][1000 genomes]
rs73759458	1.00[AMR][1000 genomes]
rs73759459	1.00[AMR][1000 genomes]
rs73759461	1.00[AMR][1000 genomes]
rs73759468	1.00[AMR][1000 genomes]
rs7701959	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv934153	chr5:60004982-60309751	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv2763456	chr5:60007355-60151767	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1026190	chr5:60020156-60148535	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv537769	chr5:60020156-60148535	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	esv2752073	chr5:60034475-60136626	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv1017095	chr5:60050600-60414783	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv933326	chr5:60074031-60413061	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	nsv881712	chr5:60116613-60266875	Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv881713	chr5:60116613-60305125	Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv598305	chr5:60116613-60308836	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv881714	chr5:60116613-60313015	Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv881715	chr5:60116613-60356423	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60102200-60137800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:60103000-60125600	Weak transcription	Brain Angular Gyrus	brain
3	chr5:60103000-60129000	Weak transcription	Fetal Intestine Small	intestine
4	chr5:60107400-60125600	Weak transcription	NHEK	skin
5	chr5:60110600-60129000	Weak transcription	Fetal Intestine Large	intestine
6	chr5:60120800-60132200	Weak transcription	K562	blood
7	chr5:60122800-60131200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:60123000-60125400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:60123000-60125600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:60123000-60125800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:60124000-60133600	Weak transcription	Pancreas	Pancrea
12	chr5:60125200-60125600	Enhancers	GM12878-XiMat	blood

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