Variant report

Variant	rs74029248
Chromosome Location	chr16:81875632-81875633
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	BHLHE40	chr16:81875221-81875789	GM12878	blood:	n/a	n/a
2	NFATC1	chr16:81875297-81875952	GM12878	blood:	n/a	n/a
3	PAX5	chr16:81875298-81875637	GM12878	blood:	n/a	n/a
4	PML	chr16:81875124-81875900	GM12878	blood:	n/a	n/a
5	MYC	chr16:81875564-81875764	K562	blood:	n/a	chr16:81875610-81875623 chr16:81875610-81875623 chr16:81875607-81875626 chr16:81875612-81875621 chr16:81875615-81875623 chr16:81875610-81875623
6	ATF2	chr16:81875255-81875769	GM12878	blood:	n/a	n/a
7	POLR2A	chr16:81875174-81876549	GM12891	blood:	n/a	n/a
8	TCF12	chr16:81875295-81875647	GM12878	blood:	n/a	n/a
9	MTA3	chr16:81875162-81876105	GM12878	blood:	n/a	n/a
10	POLR2A	chr16:81875112-81875670	GM12891	blood:	n/a	n/a
11	EBF1	chr16:81875353-81875746	GM12878	blood:	n/a	n/a
12	EBF1	chr16:81875264-81875720	GM12878	blood:	n/a	n/a
13	MAX	chr16:81875330-81875876	GM12878	blood:	n/a	chr16:81875610-81875623 chr16:81875610-81875623 chr16:81875607-81875626 chr16:81875612-81875621 chr16:81875615-81875623 chr16:81875610-81875623
14	MTA3	chr16:81875140-81876534	GM12878	blood:	n/a	n/a
15	NFATC1	chr16:81875227-81876495	GM12878	blood:	n/a	n/a
16	MXI1	chr16:81875238-81875765	GM12878	blood:	n/a	n/a
17	NFIC	chr16:81875251-81875794	GM12878	blood:	n/a	n/a
18	TCF12	chr16:81875217-81875687	GM12878	blood:	n/a	n/a
19	EP300	chr16:81875264-81875713	GM12878	blood:	n/a	n/a
20	POLR2A	chr16:81875124-81875962	GM12892	blood:	n/a	n/a
21	BCLAF1	chr16:81875131-81875827	GM12878	blood:	n/a	n/a
22	BATF	chr16:81875280-81875843	GM12878	blood:	n/a	n/a
23	STAT5A	chr16:81875260-81875801	GM12878	blood:	n/a	n/a
24	TCF3	chr16:81875242-81875682	GM12878	blood:	n/a	n/a
25	POLR2A	chr16:81875338-81876562	GM12892	blood:	n/a	n/a
26	WRNIP1	chr16:81875375-81875876	GM12878	blood:	n/a	n/a
27	CEBPB	chr16:81875275-81876147	GM12878	blood:	n/a	n/a
28	ATF2	chr16:81875221-81875719	GM12878	blood:	n/a	n/a
29	POLR2A	chr16:81875231-81877319	GM18505	blood:	n/a	n/a
30	STAT5A	chr16:81875251-81875775	GM12878	blood:	n/a	n/a
31	RUNX3	chr16:81875213-81877131	GM12878	blood:	n/a	n/a
32	POLR2A	chr16:81875235-81876391	GM12891	blood:	n/a	n/a
33	RELA	chr16:81875254-81876064	GM18951	blood:	n/a	n/a
34	POLR2A	chr16:81875195-81877010	GM12891	blood:	n/a	n/a
35	EBF1	chr16:81875248-81875747	GM12878	blood:	n/a	n/a
36	MAX	chr16:81875502-81875717	K562	blood:	n/a	chr16:81875610-81875623 chr16:81875610-81875623 chr16:81875607-81875626 chr16:81875612-81875621 chr16:81875615-81875623 chr16:81875610-81875623
37	EP300	chr16:81875202-81875728	GM12878	blood:	n/a	n/a
38	FOXM1	chr16:81875241-81875770	GM12878	blood:	n/a	n/a
39	RUNX3	chr16:81875198-81877080	GM12878	blood:	n/a	n/a
40	POLR2A	chr16:81875205-81875642	GM12878	blood:	n/a	n/a
41	POLR2A	chr16:81875137-81876441	GM12878	blood:	n/a	n/a
42	BCLAF1	chr16:81875213-81875746	GM12878	blood:	n/a	n/a
43	NFIC	chr16:81875178-81876479	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
PLCG2	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs56724202	1.00[AMR][1000 genomes]
rs7206437	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74029255	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74029257	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048389	0.93[AFR][1000 genomes];1.00[AMR][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:32 , 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	chr16:81870000-81875800	Enhancers	Primary B cells from peripheral blood	blood
6	chr16:81871200-81897200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:81871400-81875800	Weak transcription	Spleen	Spleen
8	chr16:81873600-81875800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr16:81873600-81877200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr16:81873600-81877400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr16:81874400-81879200	Weak transcription	Esophagus	oesophagus
12	chr16:81874400-81879600	Weak transcription	Pancreas	Pancrea
13	chr16:81874600-81875800	Enhancers	Primary T cells fromperipheralblood	blood
14	chr16:81875000-81876200	Enhancers	Fetal Thymus	thymus
15	chr16:81875000-81876400	Enhancers	Duodenum Mucosa	Duodenum
16	chr16:81875200-81875800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr16:81875200-81876600	Enhancers	Lung	lung
18	chr16:81875200-81877000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:81875200-81877400	Enhancers	Primary hematopoietic stem cells	blood
20	chr16:81875400-81876400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr16:81875400-81876400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr16:81875400-81876600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr16:81875400-81877400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr16:81875600-81875800	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
25	chr16:81875600-81875800	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr16:81875600-81876000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr16:81875600-81876200	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr16:81875600-81876200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr16:81875600-81876400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr16:81875600-81876400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr16:81875600-81876400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
32	chr16:81875600-81877600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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