Variant report

Variant	rs55683592
Chromosome Location	chr16:81989080-81989081
allele	A/C
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	POLR2A	chr16:81988775-81990355	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81988776..81991371-chr16:81998341..82001149,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260682	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs72824935	1.00[AFR][1000 genomes]
rs72824938	1.00[AFR][1000 genomes]
rs72824941	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72824944	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72824945	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72824949	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72829118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72829120	1.00[AFR][1000 genomes]
rs72829122	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72829125	1.00[AFR][1000 genomes]
rs72829128	1.00[AFR][1000 genomes];0.86[EUR][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	nsv1059532	chr16:81981559-81995177	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv907012	chr16:81986896-82115148	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81925800-81992600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:81954800-81991800	Weak transcription	Fetal Thymus	thymus
3	chr16:81962600-81995800	Weak transcription	Small Intestine	intestine
4	chr16:81970200-81990800	Weak transcription	Pancreas	Pancrea
5	chr16:81970800-81991200	Weak transcription	Thymus	Thymus
6	chr16:81970800-81994600	Weak transcription	Fetal Intestine Large	intestine
7	chr16:81972200-81993200	Weak transcription	Fetal Kidney	kidney
8	chr16:81982600-81990200	Weak transcription	Lung	lung
9	chr16:81982600-81991200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr16:81982600-81996600	Weak transcription	Fetal Stomach	stomach
11	chr16:81982600-82007000	Weak transcription	Gastric	stomach
12	chr16:81985000-81989600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr16:81985000-81992600	Weak transcription	Placenta	Placenta
14	chr16:81985000-81993800	Weak transcription	Fetal Intestine Small	intestine
15	chr16:81985000-81994400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr16:81985000-81995200	Weak transcription	Left Ventricle	heart
17	chr16:81985000-81995600	Strong transcription	GM12878-XiMat	blood
18	chr16:81985400-81989400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:81985400-81989600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr16:81985400-81990000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr16:81985400-81991000	Weak transcription	Adipose Nuclei	Adipose
22	chr16:81985400-81994000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr16:81985400-81994800	Strong transcription	Primary B cells from peripheral blood	blood
24	chr16:81985400-81995600	Strong transcription	Primary B cells from cord blood	blood
25	chr16:81985600-81989200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr16:81985600-81993000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr16:81985600-81993400	Strong transcription	Liver	Liver
28	chr16:81985600-81993600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr16:81987000-81989200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr16:81987000-81989600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr16:81987800-81993800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr16:81988000-81993600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr16:81988200-81991000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr16:81988600-81990400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr16:81988600-81995000	Strong transcription	Primary hematopoietic stem cells	blood
36	chr16:81988800-81990400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:81989000-81993400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr16:81989000-81994000	Strong transcription	Spleen	Spleen

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