Variant report

Variant	rs73620608
Chromosome Location	chr16:75979747-75979748
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	chr16:75963255..75965166-chr16:75978260..75980431,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs55801507	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55935534	1.00[AMR][1000 genomes]
rs56064026	1.00[AMR][1000 genomes]
rs56413988	1.00[AMR][1000 genomes]
rs56949948	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58232463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58944088	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60540929	1.00[AMR][1000 genomes]
rs60772883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60967005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61174290	1.00[AMR][1000 genomes]
rs7189193	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73618842	1.00[AMR][1000 genomes]
rs73620611	1.00[AMR][1000 genomes]
rs73620620	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620667	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620673	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620678	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620680	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620681	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620700	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73622482	1.00[AMR][1000 genomes]
rs73622491	1.00[AMR][1000 genomes]
rs8059467	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1064607	chr16:75787129-76449101	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1065794	chr16:75792288-76434118	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv542961	chr16:75792288-76434118	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv3416058	chr16:75863360-76086224	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1057858	chr16:75895639-76054551	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv906931	chr16:75898641-76005912	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv906932	chr16:75898641-76069129	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv906933	chr16:75907222-76062242	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1062228	chr16:75910252-76055594	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1059248	chr16:75916545-76054551	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv528716	chr16:75922170-75997350	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1059162	chr16:75929348-76730816	Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	esv2760443	chr16:75933228-76000421	Bivalent Enhancer Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv572995	chr16:75935025-76708417	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
16	nsv572996	chr16:75935025-76735249	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
17	nsv1062901	chr16:75936849-76000409	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv817220	chr16:75939705-76735383	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
19	nsv1061131	chr16:75950991-75986593	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv1059462	chr16:75950991-75989290	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv1063509	chr16:75955424-76029449	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv1056021	chr16:75955522-76729765	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
23	nsv542962	chr16:75955522-76729765	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
24	nsv572997	chr16:75966770-76055959	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	nsv1056427	chr16:75967783-76039759	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75973200-75991800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:75975600-75981400	Weak transcription	Brain Anterior Caudate	brain
3	chr16:75975800-75981200	Weak transcription	Brain Substantia Nigra	brain
4	chr16:75975800-75982400	Enhancers	Fetal Intestine Large	intestine
5	chr16:75976200-75981000	Enhancers	Fetal Intestine Small	intestine
6	chr16:75977200-75980600	Weak transcription	Brain Hippocampus Middle	brain
7	chr16:75977800-75981600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr16:75978200-75983200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:75978400-75980400	Enhancers	Stomach Mucosa	stomach
10	chr16:75979000-75979800	Enhancers	Small Intestine	intestine
11	chr16:75979000-75981600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr16:75979400-75980000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr16:75979400-75981400	Weak transcription	Brain Angular Gyrus	brain
14	chr16:75979400-75981600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr16:75979600-75979800	Flanking Active TSS	Duodenum Mucosa	Duodenum

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