Variant report

Variant	rs36461
Chromosome Location	chr16:46769967-46769968
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:46729440..46732206-chr16:46768844..46771531,2	K562	blood:

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10902629	1.00[AMR][1000 genomes]
rs11860636	1.00[AMR][1000 genomes]
rs12598707	1.00[AMR][1000 genomes]
rs1466170	1.00[AMR][1000 genomes]
rs1530895	1.00[AMR][1000 genomes]
rs153259	0.85[AFR][1000 genomes]
rs1542292	1.00[AMR][1000 genomes]
rs1641120	1.00[AMR][1000 genomes]
rs1645939	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1651658	1.00[AMR][1000 genomes]
rs1651659	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs166096	1.00[AMR][1000 genomes]
rs168745	1.00[AMR][1000 genomes]
rs1698957	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs185213	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1865837	1.00[AMR][1000 genomes]
rs1865838	1.00[AMR][1000 genomes]
rs194054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs194055	1.00[AMR][1000 genomes]
rs1992075	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1992078	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2033673	1.00[AMR][1000 genomes]
rs2034599	1.00[AMR][1000 genomes]
rs250420	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs250421	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs252723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs252724	1.00[AMR][1000 genomes]
rs252725	1.00[AMR][1000 genomes]
rs252727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs252728	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs252732	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs252733	1.00[AMR][1000 genomes]
rs252734	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28185	0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36309	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36311	1.00[AMR][1000 genomes]
rs36313	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36314	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36317	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36463	1.00[AMR][1000 genomes]
rs36465	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36466	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36467	1.00[AMR][1000 genomes]
rs36468	1.00[YRI][hapmap]
rs36470	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36473	1.00[AMR][1000 genomes]
rs36474	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36475	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36477	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36482	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs396907	0.80[AFR][1000 genomes]
rs40164	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs408906	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41232	1.00[AMR][1000 genomes]
rs414928	1.00[AMR][1000 genomes]
rs420560	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs425556	1.00[AMR][1000 genomes]
rs438275	1.00[AMR][1000 genomes]
rs449778	1.00[AMR][1000 genomes]
rs4966571	1.00[AMR][1000 genomes]
rs4966603	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4967248	1.00[AMR][1000 genomes]
rs4967259	1.00[AMR][1000 genomes]
rs4967594	1.00[AMR][1000 genomes]
rs4967595	1.00[AMR][1000 genomes]
rs62057622	1.00[AMR][1000 genomes]
rs633699	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs637583	1.00[AMR][1000 genomes]
rs6598661	1.00[AMR][1000 genomes]
rs6598679	1.00[AMR][1000 genomes]
rs6598781	1.00[AMR][1000 genomes]
rs695997	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs698417	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs698419	1.00[AMR][1000 genomes]
rs700580	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs700581	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7184436	1.00[AMR][1000 genomes]
rs7192389	1.00[AMR][1000 genomes]
rs7198683	1.00[AMR][1000 genomes]
rs7206393	1.00[AMR][1000 genomes]
rs794283	1.00[AMR][1000 genomes]
rs794557	1.00[AMR][1000 genomes]
rs794558	1.00[AMR][1000 genomes]
rs794559	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs797016	1.00[AMR][1000 genomes]
rs8044120	1.00[AMR][1000 genomes]
rs8046818	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8047302	1.00[AMR][1000 genomes]
rs8048535	1.00[AMR][1000 genomes]
rs8049734	1.00[AMR][1000 genomes]
rs8059285	1.00[AMR][1000 genomes]
rs808428	1.00[AMR][1000 genomes]
rs808436	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs811196	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs811267	1.00[AMR][1000 genomes]
rs811734	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs937659	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9922581	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9924386	1.00[AMR][1000 genomes]
rs9925083	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799780	chr16:46386457-46875496	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1064289	chr16:46463770-46801977	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	nsv916976	chr16:46505597-46801868	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv526656	chr16:46539392-46846663	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv1067038	chr16:46721805-46797514	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv1066472	chr16:46721805-46801769	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
13	nsv1065253	chr16:46721805-46824369	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv1059049	chr16:46721805-46859239	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
15	nsv1061651	chr16:46721805-46915511	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
16	nsv1060982	chr16:46721805-46938858	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46760200-46773400	Weak transcription	K562	blood
2	chr16:46761400-46770400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:46764400-46771600	Weak transcription	Right Atrium	heart
4	chr16:46765400-46770600	Weak transcription	Placenta	Placenta
5	chr16:46766400-46770600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:46766600-46770200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr16:46768400-46770000	Weak transcription	Left Ventricle	heart
8	chr16:46768600-46776800	Weak transcription	Pancreas	Pancrea
9	chr16:46769400-46772200	Enhancers	Fetal Heart	heart
10	chr16:46769600-46770000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr16:46769600-46770200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
12	chr16:46769600-46772200	Enhancers	Right Ventricle	heart
13	chr16:46769800-46770000	Enhancers	Fetal Muscle Trunk	muscle
14	chr16:46769800-46776600	Weak transcription	Spleen	Spleen

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