Variant report

Variant	rs10451099
Chromosome Location	chr16:12058236-12058237
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:12057501-12061734	GM18505	blood:	n/a	n/a
2	MAFF	chr16:12058236-12058361	K562	blood:	n/a	n/a
3	TBP	chr16:12057917-12058378	GM12878	blood:	n/a	n/a
4	ZNF384	chr16:12057715-12058728	K562	blood:	n/a	n/a
5	POLR2A	chr16:12058126-12059489	GM12892	blood:	n/a	n/a
6	POLR2A	chr16:12058079-12060586	GM19099	blood:	n/a	n/a
7	POLR2A	chr16:12057110-12063123	GM12891	blood:	n/a	n/a
8	FOXM1	chr16:12057921-12059317	GM12878	blood:	n/a	n/a
9	NFIC	chr16:12057945-12059686	GM12878	blood:	n/a	n/a
10	EP300	chr16:12058211-12059327	GM12878	blood:	n/a	n/a
11	MTA3	chr16:12057615-12059791	GM12878	blood:	n/a	n/a
12	UBTF	chr16:12058205-12058394	K562	blood:	n/a	n/a
13	MAFK	chr16:12058218-12058425	K562	blood:	n/a	n/a
14	MYC	chr16:12058225-12058732	K562	blood:	n/a	n/a
15	POLR2A	chr16:12058084-12060502	GM15510	blood:	n/a	n/a
16	POLR2A	chr16:12058143-12059264	GM12878	blood:	n/a	n/a
17	IKZF1	chr16:12058025-12059355	GM12878	blood:	n/a	n/a
18	POLR2A	chr16:12058025-12059338	GM18951	blood:	n/a	n/a
19	MXI1	chr16:12057829-12059429	GM12878	blood:	n/a	n/a
20	POLR2A	chr16:12058192-12060559	GM19193	blood:	n/a	n/a
21	POLR2A	chr16:12058135-12059433	GM12878	blood:	n/a	n/a
22	POLR2A	chr16:12058148-12061623	GM12892	blood:	n/a	n/a
23	POLR2A	chr16:12057323-12060663	GM12878	blood:	n/a	n/a
24	NFIC	chr16:12058095-12059492	GM12878	blood:	n/a	n/a
25	EP300	chr16:12058077-12058426	K562	blood:	n/a	n/a
26	ZNF384	chr16:12057764-12058459	GM12878	blood:	n/a	n/a
27	POLR2A	chr16:12058076-12059461	GM12892	blood:	n/a	n/a
28	PML	chr16:12057873-12059573	GM12878	blood:	n/a	n/a
29	POLR2A	chr16:12058127-12059428	GM12892	blood:	n/a	n/a
30	CHD1	chr16:12057928-12059527	GM12878	blood:	n/a	n/a
31	POLR2A	chr16:12057915-12058441	GM12878	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12008413..12010461-chr16:12056035..12059014,2	MCF-7	breast:

No data

Variant related genes	Relation type
TNFRSF17	TF binding region
ENSG00000103342	Chromatin interaction
ENSG00000266163	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10468251	0.91[ASN][1000 genomes]
rs10852345	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10852346	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11075035	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11075036	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075037	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11570137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570173	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11864397	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12597378	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12926535	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12927256	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12928141	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12929036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12929544	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12929852	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12933691	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12934607	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2017662	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35965279	0.84[ASN][1000 genomes]
rs365423	0.89[ASN][1000 genomes]
rs366262	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3743591	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3851002	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3851003	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs387871	0.90[ASN][1000 genomes]
rs3916675	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57171695	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58398910	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59320000	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6498255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6498256	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6498257	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7189024	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7190636	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7191310	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7195514	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72782778	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8046211	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8047277	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8051343	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8055129	0.94[ASN][1000 genomes]
rs8060611	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8062121	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9922422	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9922795	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv482458	chr16:12014925-12145977	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv571459	chr16:12046899-12062396	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv962195	chr16:12053526-12071576	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12040400-12065400	Weak transcription	Fetal Intestine Small	intestine
2	chr16:12042200-12064400	Weak transcription	Fetal Stomach	stomach
3	chr16:12048600-12064800	Weak transcription	Thymus	Thymus
4	chr16:12052200-12067600	Weak transcription	Osteobl	bone
5	chr16:12052200-12069600	Weak transcription	Primary T cells from cord blood	blood
6	chr16:12052400-12058600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr16:12052400-12066800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:12053000-12058600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:12053000-12065800	Weak transcription	Placenta	Placenta
10	chr16:12053200-12058600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr16:12053400-12058600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr16:12053400-12058800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr16:12054600-12069400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr16:12055000-12059000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr16:12055800-12058600	Enhancers	Primary B cells from cord blood	blood
16	chr16:12056200-12058600	Enhancers	Primary B cells from peripheral blood	blood
17	chr16:12056800-12069400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr16:12057000-12060000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr16:12057000-12067600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr16:12057000-12067600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr16:12057400-12059400	Enhancers	K562	blood
22	chr16:12057600-12059800	Enhancers	Fetal Thymus	thymus
23	chr16:12057800-12058800	Weak transcription	NHEK	skin
24	chr16:12058200-12058600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr16:12058200-12058800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr16:12058200-12059000	Enhancers	Psoas Muscle	Psoas
27	chr16:12058200-12059400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr16:12058200-12059400	Bivalent Enhancer	HepG2	liver
29	chr16:12058200-12061200	Active TSS	GM12878-XiMat	blood

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