Variant report

Variant	rs12716999
Chromosome Location	chr16:31707679-31707680
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr16:31707510-31707752	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31461791..31465171-chr16:31706376..31712369,7	MCF-7	breast:
2	chr16:31462018..31465168-chr16:31706757..31713127,6	MCF-7	breast:
3	chr16:31705842..31708474-chr16:31710893..31713650,2	MCF-7	breast:
4	chr16:31707024..31708664-chr16:31710325..31712607,2	K562	blood:
5	chr16:31469723..31472313-chr16:31706900..31708423,2	MCF-7	breast:

No data

Variant related genes	Relation type
CLUHP3	TF binding region
ENSG00000260568	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000261474	Chromatin interaction
ENSG00000131797	Chromatin interaction
ENSG00000260267	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10871458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11150638	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1156903	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12324951	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12447780	0.83[ASN][1000 genomes]
rs12717000	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1406177	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1528319	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1534507	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1852666	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1881316	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1919040	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1919042	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2078924	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2106579	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2106581	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2157970	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178179	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2188619	0.86[AMR][1000 genomes]
rs2222754	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2359219	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2359222	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2359226	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2359455	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28427454	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4620975	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4889553	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4889555	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4889688	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4889689	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4889693	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62054710	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6565267	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6565269	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6565275	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6565278	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6565280	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6565282	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6565285	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6565286	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6565287	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67922432	0.84[AMR][1000 genomes]
rs7188627	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7190730	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7191481	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7206536	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs727349	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8049323	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053712	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8060086	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8062424	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8062902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916753	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs929208	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9921546	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9921898	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9928006	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9929892	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9930700	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9936002	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9938037	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
2	esv3344221	chr16:31526786-31821640	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	esv3323903	chr16:31526802-31821640	Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv3504445	chr16:31526873-31821580	Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	esv3504446	chr16:31526873-31821580	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3366795	chr16:31534951-31827424	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
7	nsv833195	chr16:31576112-31763222	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1057598	chr16:31608831-31726446	Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv1067321	chr16:31652036-31959992	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	nsv918074	chr16:31669781-31935033	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv1063037	chr16:31669981-31934894	Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv542903	chr16:31669981-31934894	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31704400-31708400	Weak transcription	K562	blood
2	chr16:31704800-31708600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr16:31705000-31708400	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr16:31705000-31708600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr16:31705000-31711800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr16:31705200-31708000	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr16:31705200-31708000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr16:31705200-31708600	Enhancers	Primary T cells from cord blood	blood
9	chr16:31705200-31708600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr16:31705600-31708000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr16:31705800-31708000	Enhancers	Thymus	Thymus
12	chr16:31705800-31708200	Enhancers	Primary hematopoietic stem cells	blood
13	chr16:31705800-31708400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr16:31706000-31707800	Enhancers	Dnd41	blood
15	chr16:31706000-31708600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr16:31706000-31708600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr16:31706200-31708000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr16:31706200-31708200	Weak transcription	Fetal Kidney	kidney
19	chr16:31706200-31708600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr16:31706200-31711600	Weak transcription	Pancreas	Pancrea
21	chr16:31706400-31708000	Enhancers	Primary B cells from peripheral blood	blood
22	chr16:31706400-31708000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr16:31706400-31708000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:31706600-31708000	Enhancers	Fetal Thymus	thymus
25	chr16:31707000-31707800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr16:31707000-31707800	Enhancers	Lung	lung
27	chr16:31707000-31708000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr16:31707000-31708000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr16:31707200-31708400	Enhancers	HepG2	liver
30	chr16:31707400-31711400	Weak transcription	GM12878-XiMat	blood
31	chr16:31707600-31708000	Enhancers	Spleen	Spleen
32	chr16:31707600-31708200	Enhancers	Duodenum Mucosa	Duodenum
33	chr16:31707600-31708400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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