Variant report

Variant	rs73590821
Chromosome Location	chr16:81872424-81872425
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	RUNX3	chr16:81872353-81872802	GM12878	blood:	n/a	n/a
2	SP1	chr16:81872379-81872963	HCT-116	colon:	n/a	n/a
3	SPI1	chr16:81872424-81872774	GM12891	blood:	n/a	n/a
4	FOSL1	chr16:81872409-81872894	HCT-116	colon:	n/a	n/a
5	POLR2A	chr16:81872342-81872717	GM12891	blood:	n/a	n/a
6	BATF	chr16:81872409-81872772	GM12878	blood:	n/a	chr16:81872609-81872620
7	NFIC	chr16:81872309-81873043	GM12878	blood:	n/a	n/a
8	NFIC	chr16:81872366-81872892	GM12878	blood:	n/a	n/a
9	BCL11A	chr16:81872370-81872905	GM12878	blood:	n/a	n/a
10	RUNX3	chr16:81872350-81872899	GM12878	blood:	n/a	n/a
11	ATF2	chr16:81872398-81872864	GM12878	blood:	n/a	n/a
12	FOSL1	chr16:81872374-81872996	HCT-116	colon:	n/a	n/a
13	ESR1	chr16:81872381-81872736	ECC-1	luminal epithelium:	n/a	chr16:81872501-81872516 chr16:81872501-81872518
14	MTA3	chr16:81872250-81872895	GM12878	blood:	n/a	n/a
15	PAX5	chr16:81872420-81872750	GM12878	blood:	n/a	n/a
16	IRF4	chr16:81872392-81872855	GM12878	blood:	n/a	n/a
17	PAX5	chr16:81872407-81872799	GM12878	blood:	n/a	n/a
18	BHLHE40	chr16:81872420-81872990	GM12878	blood:	n/a	n/a
19	POLR2A	chr16:81872304-81872768	GM12892	blood:	n/a	n/a
20	GATA3	chr16:81872413-81872662	MCF-7	breast:	n/a	n/a
21	JUND	chr16:81872387-81872869	HCT-116	colon:	n/a	n/a
22	PAX5	chr16:81872411-81872657	GM12878	blood:	n/a	n/a
23	EBF1	chr16:81872414-81872735	GM12878	blood:	n/a	n/a
24	YY1	chr16:81872395-81872649	GM12878	blood:	n/a	n/a
25	BATF	chr16:81872395-81872872	GM12878	blood:	n/a	chr16:81872609-81872620
26	FOXM1	chr16:81872368-81872892	GM12878	blood:	n/a	n/a
27	NR2F2	chr16:81872397-81872777	MCF-7	breast:	n/a	n/a
28	FOS	chr16:81872409-81872804	MCF10A-Er-Src	breast:	n/a	chr16:81872611-81872622
29	ATF2	chr16:81872331-81872855	GM12878	blood:	n/a	n/a
30	IRF4	chr16:81872392-81872839	GM12878	blood:	n/a	n/a
31	ESR1	chr16:81872405-81872761	ECC-1	luminal epithelium:	n/a	chr16:81872501-81872516 chr16:81872501-81872518
32	BCLAF1	chr16:81872412-81872957	GM12878	blood:	n/a	n/a
33	POU2F2	chr16:81872405-81872718	GM12891	blood:	n/a	n/a
34	POLR2A	chr16:81872403-81872588	GM12878	blood:	n/a	n/a
35	POLR2A	chr16:81872412-81872738	GM12891	blood:	n/a	n/a
36	ESR1	chr16:81872256-81872850	ECC-1	luminal epithelium:	n/a	chr16:81872501-81872516 chr16:81872501-81872518
37	BCL11A	chr16:81872411-81872720	GM12878	blood:	n/a	n/a
38	POU2F2	chr16:81872378-81872794	GM12878	blood:	n/a	n/a
39	POLR2A	chr16:81872407-81872737	HCT-116	colon:	n/a	n/a
40	ESR1	chr16:81872291-81872684	ECC-1	luminal epithelium:	n/a	chr16:81872501-81872516 chr16:81872501-81872518
41	JUND	chr16:81872411-81872961	HCT-116	colon:	n/a	n/a
42	SP1	chr16:81872316-81872757	GM12878	blood:	n/a	n/a
43	FOS	chr16:81872418-81872793	MCF10A-Er-Src	breast:	n/a	chr16:81872611-81872622

No.	Distal block	Cell Line	Cell type
1	chr16:81866737..81868988-chr16:81871902..81873783,2	MCF-7	breast:
2	chr16:81766249..81767036-chr16:81872172..81872961,3	MCF-7	breast:
3	chr16:81872418..81872949-chr16:83980295..83981208,2	MCF-7	breast:

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]
rs4888179	0.87[ASN][1000 genomes]
rs55931921	0.94[ASN][1000 genomes]
rs58899768	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7196412	0.87[ASN][1000 genomes]
rs72832056	0.94[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81858800-81878800	Weak transcription	Fetal Intestine Small	intestine
2	chr16:81865200-81874200	Weak transcription	Pancreas	Pancrea
3	chr16:81865400-81872800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr16:81865800-81876600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:81866800-81873800	Weak transcription	Lung	lung
6	chr16:81866800-81875600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr16:81866800-81898600	Weak transcription	Right Atrium	heart
8	chr16:81867600-81873000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr16:81868000-81872800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr16:81868200-81886000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr16:81868400-81875600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:81869400-81875400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr16:81869800-81872800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr16:81870000-81875600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr16:81870000-81875800	Enhancers	Primary B cells from peripheral blood	blood
16	chr16:81870600-81874200	Weak transcription	Esophagus	oesophagus
17	chr16:81871000-81872600	Enhancers	Primary B cells from cord blood	blood
18	chr16:81871200-81872600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr16:81871200-81875000	Weak transcription	Fetal Thymus	thymus
20	chr16:81871200-81897200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr16:81871400-81875800	Weak transcription	Spleen	Spleen
22	chr16:81871600-81872600	Enhancers	GM12878-XiMat	blood
23	chr16:81871600-81874200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr16:81871600-81875000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr16:81871800-81875200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr16:81871800-81875200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr16:81872200-81872600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr16:81872400-81873200	Enhancers	HUVEC	blood vessel

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