Variant report

Variant	rs13335344
Chromosome Location	chr16:81875157-81875158
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	PML	chr16:81875124-81875900	GM12878	blood:	n/a	n/a
2	POLR2A	chr16:81875112-81875670	GM12891	blood:	n/a	n/a
3	MTA3	chr16:81875140-81876534	GM12878	blood:	n/a	n/a
4	POLR2A	chr16:81875124-81875962	GM12892	blood:	n/a	n/a
5	BCLAF1	chr16:81875131-81875827	GM12878	blood:	n/a	n/a
6	POLR2A	chr16:81875137-81876441	GM12878	blood:	n/a	n/a

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	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13334290	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13338037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13339274	0.98[AMR][1000 genomes];0.99[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	0.92[ASN][1000 genomes]
rs62044142	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62045701	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62045702	0.98[AMR][1000 genomes];0.99[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	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74029252	0.96[AMR][1000 genomes];0.97[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:27 , 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	chr16:81866800-81875600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr16:81866800-81898600	Weak transcription	Right Atrium	heart
5	chr16:81868200-81886000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr16:81868400-81875600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr16:81869400-81875400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:81870000-81875600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr16:81870000-81875800	Enhancers	Primary B cells from peripheral blood	blood
10	chr16:81871200-81897200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr16:81871400-81875800	Weak transcription	Spleen	Spleen
12	chr16:81871800-81875200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr16:81871800-81875200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr16:81872800-81875200	Enhancers	Primary B cells from cord blood	blood
15	chr16:81872800-81875200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:81873000-81875200	Enhancers	GM12878-XiMat	blood
17	chr16:81873600-81875800	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr16:81873600-81877200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr16:81873600-81877400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr16:81874400-81879200	Weak transcription	Esophagus	oesophagus
21	chr16:81874400-81879600	Weak transcription	Pancreas	Pancrea
22	chr16:81874600-81875400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr16:81874600-81875800	Enhancers	Primary T cells fromperipheralblood	blood
24	chr16:81874800-81875200	Weak transcription	Lung	lung
25	chr16:81875000-81875200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr16:81875000-81876200	Enhancers	Fetal Thymus	thymus
27	chr16:81875000-81876400	Enhancers	Duodenum Mucosa	Duodenum

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