Variant report

Variant	rs56949948
Chromosome Location	chr16:76018054-76018055
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56064026	1.00[AMR][1000 genomes]
rs56413988	1.00[AMR][1000 genomes]
rs58232463	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58944088	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60540929	1.00[AMR][1000 genomes]
rs60772883	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60967005	0.95[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]
rs73620608	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620611	1.00[AMR][1000 genomes]
rs73620620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620626	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620655	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620673	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620678	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620680	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620700	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73622482	1.00[AMR][1000 genomes]
rs73622491	1.00[AMR][1000 genomes]
rs8059467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	nsv1055502	chr16:75985061-76039759	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
21	nsv1063701	chr16:75989290-76023846	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
22	nsv1066331	chr16:75989290-76055594	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
23	nsv827751	chr16:76002055-76018867	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
24	nsv817739	chr16:76005912-76018855	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
25	nsv1064328	chr16:76007680-76022436	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
26	esv34693	chr16:76009299-76021533	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
27	esv2756815	chr16:76009781-76021509	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	inside rSNPs	diseases
28	esv2758658	chr16:76009781-76021509	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
29	nsv572998	chr16:76010598-76028931	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76015200-76019600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:76015600-76018800	Enhancers	Brain Germinal Matrix	brain
3	chr16:76016200-76018400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr16:76016800-76018200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr16:76016800-76018200	Enhancers	Brain Hippocampus Middle	brain
6	chr16:76017200-76018200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:76017200-76018400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr16:76017200-76018400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr16:76017400-76018400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr16:76017400-76018400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr16:76017600-76018200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr16:76017800-76018200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr16:76017800-76018200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr16:76018000-76018200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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