Variant report

Variant	rs72829122
Chromosome Location	chr16:81993671-81993672
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	POLR2A	chr16:81992011-81994566	GM12892	blood:	n/a	n/a
2	POLR2A	chr16:81993550-81993713	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:81993304-81993991	GM12891	blood:	n/a	n/a
4	POLR2A	chr16:81992867-81994087	GM18505	blood:	n/a	n/a
5	POLR2A	chr16:81992102-81994030	GM12892	blood:	n/a	n/a
6	POLR2A	chr16:81992973-81994083	GM12892	blood:	n/a	n/a
7	POLR2A	chr16:81992039-81994589	GM12891	blood:	n/a	n/a
8	POLR2A	chr16:81992053-81994097	GM12892	blood:	n/a	n/a
9	POLR2A	chr16:81992231-81994171	GM12878	blood:	n/a	n/a
10	POLR2A	chr16:81993657-81994020	GM12878	blood:	n/a	n/a
11	POLR2A	chr16:81992217-81994790	GM12891	blood:	n/a	n/a
12	POLR2A	chr16:81991981-81994095	GM12891	blood:	n/a	n/a
13	POLR2A	chr16:81993131-81993900	GM12878	blood:	n/a	n/a
14	POLR2A	chr16:81992189-81994364	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81985919..81988138-chr16:81993612..81995285,2	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]
rs55683592	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72824935	1.00[AFR][1000 genomes]
rs72824938	1.00[AFR][1000 genomes]
rs72824941	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72824944	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72824945	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72824949	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72829118	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72829120	1.00[AFR][1000 genomes]
rs72829125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72829128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81962600-81995800	Weak transcription	Small Intestine	intestine
2	chr16:81970800-81994600	Weak transcription	Fetal Intestine Large	intestine
3	chr16:81982600-81996600	Weak transcription	Fetal Stomach	stomach
4	chr16:81982600-82007000	Weak transcription	Gastric	stomach
5	chr16:81985000-81993800	Weak transcription	Fetal Intestine Small	intestine
6	chr16:81985000-81994400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr16:81985000-81995200	Weak transcription	Left Ventricle	heart
8	chr16:81985000-81995600	Strong transcription	GM12878-XiMat	blood
9	chr16:81985400-81994000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr16:81985400-81994800	Strong transcription	Primary B cells from peripheral blood	blood
11	chr16:81985400-81995600	Strong transcription	Primary B cells from cord blood	blood
12	chr16:81987800-81993800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr16:81988600-81995000	Strong transcription	Primary hematopoietic stem cells	blood
14	chr16:81989000-81994000	Strong transcription	Spleen	Spleen
15	chr16:81989200-81994000	Strong transcription	Duodenum Mucosa	Duodenum
16	chr16:81990400-81996400	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr16:81990600-81994000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr16:81990600-81995600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr16:81991200-81994000	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr16:81992800-81994400	Weak transcription	Adipose Nuclei	Adipose
21	chr16:81993000-81995200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:81993400-81994000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr16:81993400-81994800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr16:81993400-81997200	Weak transcription	Lung	lung
25	chr16:81993400-81999600	Weak transcription	Liver	Liver
26	chr16:81993600-81995600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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