Variant report

Variant	rs28376278
Chromosome Location	chr16:81830449-81830450
allele	A/G
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	MYC	chr16:81830290-81830827	MCF10A-Er-Src	breast:	n/a	chr16:81830644-81830655
2	NFATC1	chr16:81830203-81831577	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:81830187-81832981	GM12892	blood:	n/a	n/a
4	POLR2A	chr16:81830183-81832892	GM12892	blood:	n/a	n/a
5	POLR2A	chr16:81829513-81832989	GM12878	blood:	n/a	n/a
6	POLR2A	chr16:81830326-81832943	GM12891	blood:	n/a	n/a
7	PML	chr16:81829657-81832897	GM12878	blood:	n/a	chr16:81832500-81832508 chr16:81829827-81829835
8	FOXM1	chr16:81830439-81832937	GM12878	blood:	n/a	n/a
9	RUNX3	chr16:81830280-81832883	GM12878	blood:	n/a	chr16:81830603-81830612 chr16:81830603-81830612
10	RUNX3	chr16:81830204-81833044	GM12878	blood:	n/a	chr16:81830603-81830612 chr16:81830603-81830612
11	NFATC1	chr16:81830348-81831582	GM12878	blood:	n/a	n/a
12	POLR2A	chr16:81830253-81831510	GM12892	blood:	n/a	n/a
13	POLR2A	chr16:81830281-81830878	GM12878	blood:	n/a	n/a
14	POLR2A	chr16:81830405-81830854	GM12891	blood:	n/a	n/a
15	FOS	chr16:81830288-81830458	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT5A	chr16:81830383-81831531	GM12878	blood:	n/a	chr16:81830767-81830775
17	IKZF1	chr16:81830308-81832911	GM12878	blood:	n/a	chr16:81832253-81832261
18	RELA	chr16:81830432-81831432	GM15510	blood:	n/a	n/a
19	POLR2A	chr16:81829638-81832949	GM18505	blood:	n/a	n/a
20	NFIC	chr16:81829521-81833109	GM12878	blood:	n/a	n/a
21	MAX	chr16:81829408-81830817	NB4	blood:	n/a	chr16:81830644-81830655
22	MTA3	chr16:81829389-81833165	GM12878	blood:	n/a	n/a
23	RELA	chr16:81830410-81832885	GM12891	blood:	n/a	n/a
24	ZNF263	chr16:81830200-81830729	HEK293-T-REx	kidney:	n/a	n/a
25	MTA3	chr16:81830262-81831581	GM12878	blood:	n/a	n/a
26	POLR2A	chr16:81830437-81832974	GM12878	blood:	n/a	n/a
27	BCLAF1	chr16:81830359-81831597	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81830336..81831988-chr16:81835659..81838054,2	K562	blood:
2	chr16:81829889..81831836-chr16:81836554..81838108,2	K562	blood:
3	chr16:81829706..81831905-chr16:81903990..81906262,2	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:6)

rs_ID	r²[population]
rs12447670	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12918182	0.88[ASN][1000 genomes]
rs34332984	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4265800	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4889384	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889385	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81814400-81831800	Weak transcription	Adipose Nuclei	Adipose
2	chr16:81815400-81830600	Weak transcription	Thymus	Thymus
3	chr16:81818000-81845000	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr16:81819800-81848800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr16:81825200-81832000	Weak transcription	Fetal Kidney	kidney
6	chr16:81826000-81831800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:81827200-81831800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:81827800-81841800	Weak transcription	Fetal Intestine Small	intestine
9	chr16:81828800-81831800	Genic enhancers	Primary B cells from cord blood	blood
10	chr16:81828800-81832800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr16:81828800-81833600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr16:81829200-81830800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
13	chr16:81829200-81832200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr16:81829200-81842400	Weak transcription	Pancreas	Pancrea
15	chr16:81829400-81830600	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr16:81829400-81831400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr16:81829400-81832200	Enhancers	Fetal Thymus	thymus
18	chr16:81829400-81835200	Enhancers	Primary hematopoietic stem cells	blood
19	chr16:81829600-81830800	Enhancers	Duodenum Mucosa	Duodenum
20	chr16:81829600-81831400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr16:81829600-81831400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:81829600-81832800	Enhancers	Placenta	Placenta
23	chr16:81829800-81830800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr16:81829800-81831200	Enhancers	NHEK	skin
25	chr16:81829800-81831400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr16:81829800-81831400	Enhancers	HMEC	breast
27	chr16:81829800-81833200	Enhancers	Primary T cells fromperipheralblood	blood
28	chr16:81830000-81830600	Weak transcription	Right Atrium	heart
29	chr16:81830000-81830800	Enhancers	Esophagus	oesophagus
30	chr16:81830000-81831000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr16:81830000-81831800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr16:81830000-81831800	Weak transcription	Lung	lung
33	chr16:81830000-81832400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr16:81830200-81831200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr16:81830200-81831800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr16:81830200-81834200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr16:81830400-81830800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr16:81830400-81830800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr16:81830400-81830800	Enhancers	K562	blood
40	chr16:81830400-81831600	Weak transcription	Spleen	Spleen
41	chr16:81830400-81831800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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