Variant report

Variant	rs62045702
Chromosome Location	chr16:81876294-81876295
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:81876240-81876390	GM12866	blood:	n/a	n/a
2	CTCF	chr16:81876200-81876350	GM12872	blood:	n/a	n/a
3	CTCF	chr16:81876216-81876302	H1-hESC	embryonic stem cell:	n/a	n/a
4	STAT5A	chr16:81875799-81876611	GM12878	blood:	n/a	n/a
5	CTCF	chr16:81876200-81876350	GM12864	blood:	n/a	n/a
6	CTCF	chr16:81876219-81876363	GM12892	blood:	n/a	n/a
7	GTF2F1	chr16:81876250-81876301	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr16:81875174-81876549	GM12891	blood:	n/a	n/a
9	FOXM1	chr16:81875845-81876440	GM12878	blood:	n/a	n/a
10	POU2F2	chr16:81876153-81876873	GM12891	blood:	n/a	chr16:81876594-81876606
11	POLR2A	chr16:81876195-81876584	GM12878	blood:	n/a	n/a
12	MTA3	chr16:81875140-81876534	GM12878	blood:	n/a	n/a
13	NFATC1	chr16:81875227-81876495	GM12878	blood:	n/a	n/a
14	ELF1	chr16:81876222-81876725	GM12878	blood:	n/a	n/a
15	CTCF	chr16:81876180-81876330	GM12868	blood:	n/a	n/a
16	CTCF	chr16:81876160-81876310	GM12873	blood:	n/a	n/a
17	CTCF	chr16:81876160-81876310	GM12867	blood:	n/a	n/a
18	CTCF	chr16:81876152-81876336	GM19240	blood:	n/a	n/a
19	CTCF	chr16:81876160-81876310	GM12878	blood:	n/a	n/a
20	POLR2A	chr16:81875338-81876562	GM12892	blood:	n/a	n/a
21	POLR2A	chr16:81875997-81876564	GM12892	blood:	n/a	n/a
22	BCLAF1	chr16:81876015-81876545	GM12878	blood:	n/a	n/a
23	POLR2A	chr16:81875231-81877319	GM18505	blood:	n/a	n/a
24	RUNX3	chr16:81875213-81877131	GM12878	blood:	n/a	n/a
25	POLR2A	chr16:81875235-81876391	GM12891	blood:	n/a	n/a
26	CTCF	chr16:81876180-81876330	GM12871	blood:	n/a	n/a
27	POLR2A	chr16:81875195-81877010	GM12891	blood:	n/a	n/a
28	CTCF	chr16:81876081-81876404	GM12878	blood:	n/a	n/a
29	PML	chr16:81875964-81876578	GM12878	blood:	n/a	n/a
30	POLR2A	chr16:81875767-81876580	GM12878	blood:	n/a	n/a
31	CTCF	chr16:81876180-81876330	Hela-S3	cervix:	n/a	n/a
32	RUNX3	chr16:81875198-81877080	GM12878	blood:	n/a	n/a
33	POLR2A	chr16:81875137-81876441	GM12878	blood:	n/a	n/a
34	CTCF	chr16:81876160-81876310	MCF-7	breast:	n/a	n/a
35	POLR2A	chr16:81875679-81877269	GM12891	blood:	n/a	n/a
36	NFIC	chr16:81875178-81876479	GM12878	blood:	n/a	n/a
37	CTCF	chr16:81876151-81876308	GM12878	blood:	n/a	n/a
38	CTCF	chr16:81876140-81876315	GM19238	blood:	n/a	n/a
39	CTCF	chr16:81876160-81876310	GM12874	blood:	n/a	n/a
40	CTCF	chr16:81876160-81876310	GM12875	blood:	n/a	n/a

No data

Variant related genes	Relation type
PLCG2	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12445050	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13334290	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13335344	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13338037	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13339274	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28734133	0.97[ASN][1000 genomes]
rs4547325	0.92[ASN][1000 genomes]
rs4616280	0.90[ASN][1000 genomes]
rs55856197	0.81[ASN][1000 genomes]
rs56188311	0.85[ASN][1000 genomes]
rs62044136	0.85[ASN][1000 genomes]
rs62044137	0.87[ASN][1000 genomes]
rs62044141	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62044142	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62045701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62045704	1.00[ASN][1000 genomes]
rs62045706	0.92[ASN][1000 genomes]
rs6564923	0.81[ASN][1000 genomes]
rs7188868	0.83[ASN][1000 genomes]
rs7193477	0.85[ASN][1000 genomes]
rs7196980	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74029252	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7500467	0.81[ASN][1000 genomes]
rs8047437	0.92[ASN][1000 genomes]
rs8182116	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
2	nsv573365	chr16:81804972-81975892	Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1061544	chr16:81834313-81877375	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81858800-81878800	Weak transcription	Fetal Intestine Small	intestine
2	chr16:81865800-81876600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:81866800-81898600	Weak transcription	Right Atrium	heart
4	chr16:81868200-81886000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr16:81871200-81897200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:81873600-81877200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr16:81873600-81877400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr16:81874400-81879200	Weak transcription	Esophagus	oesophagus
9	chr16:81874400-81879600	Weak transcription	Pancreas	Pancrea
10	chr16:81875000-81876400	Enhancers	Duodenum Mucosa	Duodenum
11	chr16:81875200-81876600	Enhancers	Lung	lung
12	chr16:81875200-81877000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:81875200-81877400	Enhancers	Primary hematopoietic stem cells	blood
14	chr16:81875400-81876400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr16:81875400-81876400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr16:81875400-81876600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:81875400-81877400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr16:81875600-81876400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr16:81875600-81876400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr16:81875600-81876400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
21	chr16:81875600-81877600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr16:81875800-81876400	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr16:81875800-81877000	Enhancers	Spleen	Spleen
24	chr16:81876000-81876400	Enhancers	Placenta	Placenta
25	chr16:81876200-81876400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr16:81876200-81876400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr16:81876200-81876400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr16:81876200-81877800	Enhancers	Primary B cells from peripheral blood	blood
29	chr16:81876200-81878400	Enhancers	Primary B cells from cord blood	blood
30	chr16:81876200-81918200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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