Variant report

Variant	rs700580
Chromosome Location	chr16:46682974-46682975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr16:46682564-46682981	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:46681844..46684169-chr16:46721518..46723822,2	K562	blood:

Variant related genes	Relation type
ENSG00000260909	TF binding region
ENSG00000091651	Chromatin interaction
ENSG00000069329	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10902629	1.00[AMR][1000 genomes]
rs11860636	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12598707	1.00[AMR][1000 genomes]
rs1466170	1.00[AMR][1000 genomes]
rs1530895	1.00[AMR][1000 genomes]
rs153259	0.88[AFR][1000 genomes]
rs1542292	1.00[AMR][1000 genomes]
rs1641120	1.00[AMR][1000 genomes]
rs1645939	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1651658	1.00[AMR][1000 genomes]
rs1651659	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs166096	1.00[AMR][1000 genomes]
rs168745	1.00[AMR][1000 genomes]
rs1698957	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs185213	1.00[AMR][1000 genomes]
rs1865837	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1865838	1.00[AMR][1000 genomes]
rs194054	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs194055	1.00[AMR][1000 genomes]
rs1992075	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1992078	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2033673	1.00[AMR][1000 genomes]
rs2034599	1.00[AMR][1000 genomes]
rs2164516	0.80[AFR][1000 genomes]
rs250420	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs250421	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs252723	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs252724	1.00[AMR][1000 genomes]
rs252725	1.00[AMR][1000 genomes]
rs252727	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs252728	1.00[AMR][1000 genomes]
rs252732	1.00[AMR][1000 genomes]
rs252733	1.00[AMR][1000 genomes]
rs252734	1.00[AMR][1000 genomes]
rs28185	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36309	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36311	1.00[AMR][1000 genomes]
rs36313	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36314	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36317	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36459	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36461	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36463	1.00[AMR][1000 genomes]
rs36465	1.00[AMR][1000 genomes]
rs36466	1.00[AMR][1000 genomes]
rs36467	1.00[AMR][1000 genomes]
rs36470	1.00[AMR][1000 genomes]
rs36473	1.00[AMR][1000 genomes]
rs36474	1.00[AMR][1000 genomes]
rs36475	1.00[AMR][1000 genomes]
rs36477	1.00[AMR][1000 genomes]
rs36482	1.00[AMR][1000 genomes]
rs40164	1.00[AMR][1000 genomes]
rs408906	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41232	1.00[AMR][1000 genomes]
rs414928	1.00[AMR][1000 genomes]
rs420560	0.96[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	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4966603	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4967248	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4967259	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4967594	1.00[AMR][1000 genomes]
rs4967595	1.00[AMR][1000 genomes]
rs62057622	1.00[AMR][1000 genomes]
rs633699	1.00[AMR][1000 genomes]
rs637583	1.00[AMR][1000 genomes]
rs6598661	1.00[AMR][1000 genomes]
rs6598679	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6598781	1.00[AMR][1000 genomes]
rs695997	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs698417	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs698419	1.00[AMR][1000 genomes]
rs700581	0.96[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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs797016	1.00[AMR][1000 genomes]
rs8044120	1.00[AMR][1000 genomes]
rs8046818	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	1.00[AMR][1000 genomes]
rs811196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs811267	1.00[AMR][1000 genomes]
rs811734	1.00[AMR][1000 genomes]
rs937659	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9922581	1.00[AMR][1000 genomes]
rs9924386	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9925083	1.00[AMR][1000 genomes]
rs9935045	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv1066221	chr16:46463770-46699143	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh 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
3	nsv1060734	chr16:46463770-46768102	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	esv1797185	chr16:46489836-46731413	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv428327	chr16:46556968-46718490	Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
15	nsv984334	chr16:46674416-46704148	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46655600-46694200	Weak transcription	Right Ventricle	heart
2	chr16:46664200-46683000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr16:46667400-46683000	Weak transcription	Fetal Muscle Leg	muscle
4	chr16:46672600-46691200	Weak transcription	Gastric	stomach
5	chr16:46673000-46683000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:46674200-46692800	Weak transcription	Ovary	ovary
7	chr16:46674400-46684000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr16:46679800-46689800	Weak transcription	Primary B cells from cord blood	blood
9	chr16:46681200-46691000	Weak transcription	Primary T cells from cord blood	blood
10	chr16:46681200-46692600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr16:46681400-46683000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr16:46681400-46683400	Weak transcription	Adipose Nuclei	Adipose
13	chr16:46681400-46692800	Weak transcription	Brain Angular Gyrus	brain
14	chr16:46681400-46693000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr16:46681600-46683200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr16:46681800-46692000	Weak transcription	Brain Hippocampus Middle	brain
17	chr16:46682000-46686600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:46682000-46691000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr16:46682200-46691000	Weak transcription	Left Ventricle	heart
20	chr16:46682200-46692800	Weak transcription	Spleen	Spleen
21	chr16:46682400-46683200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr16:46682800-46683000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr16:46682800-46683000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr16:46682800-46683000	Weak transcription	Aorta	Aorta
25	chr16:46682800-46683000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr16:46682800-46683000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr16:46682800-46683000	Enhancers	HSMM	muscle
28	chr16:46682800-46683000	Enhancers	HSMMtube	muscle
29	chr16:46682800-46683200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr16:46682800-46683200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr16:46682800-46683200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr16:46682800-46683200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr16:46682800-46683200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr16:46682800-46683200	Strong transcription	Stomach Smooth Muscle	stomach
35	chr16:46682800-46683200	Enhancers	NHLF	lung
36	chr16:46682800-46684400	Enhancers	Placenta	Placenta

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