Variant report

Variant	rs6564920
Chromosome Location	chr16:81819060-81819061
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	ZNF143	chr16:81818725-81819107	GM12878	blood:	n/a	n/a
2	RCOR1	chr16:81818888-81819230	GM12878	blood:	n/a	n/a
3	PML	chr16:81818766-81819419	GM12878	blood:	n/a	chr16:81819035-81819043
4	POLR2A	chr16:81818990-81820270	GM12878	blood:	n/a	n/a
5	POLR2A	chr16:81818532-81820366	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81797999..81801347-chr16:81816788..81819306,3	K562	blood:
2	chr16:81811097..81813033-chr16:81817790..81820555,3	MCF-7	breast:

Variant related genes	Relation type
PLCG2	TF binding region
ENSG00000197943	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11642139	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11861147	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11866195	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12934353	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4281705	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4354929	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4476174	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4480797	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4561462	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4577082	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4580154	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7499585	0.83[AMR][1000 genomes]
rs8045964	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8047206	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8052218	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9944386	0.81[AMR][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	chr16:81815200-81830000	Weak transcription	Esophagus	oesophagus
3	chr16:81815400-81830600	Weak transcription	Thymus	Thymus
4	chr16:81816400-81820200	Enhancers	Pancreas	Pancrea
5	chr16:81816400-81820400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr16:81816800-81822200	Weak transcription	Colonic Mucosa	Colon
7	chr16:81817400-81822200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr16:81817600-81819600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:81817800-81819400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:81817800-81824000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
11	chr16:81818000-81819600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr16:81818000-81819800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr16:81818000-81821000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:81818000-81823200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr16:81818000-81827800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr16:81818000-81830400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr16:81818000-81845000	Genic enhancers	Primary B cells from peripheral blood	blood
18	chr16:81818200-81819200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr16:81818200-81819200	Weak transcription	Lung	lung
20	chr16:81818200-81819400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr16:81818200-81819600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr16:81818200-81819800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr16:81818200-81819800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr16:81818200-81823800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr16:81818400-81819800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr16:81818400-81826000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr16:81818600-81819600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr16:81818600-81819600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr16:81818600-81819600	Weak transcription	Spleen	Spleen
30	chr16:81818600-81820000	Weak transcription	Liver	Liver
31	chr16:81818600-81820400	Genic enhancers	Primary B cells from cord blood	blood
32	chr16:81818600-81824400	Weak transcription	Colon Smooth Muscle	Colon
33	chr16:81818600-81825400	Weak transcription	Fetal Intestine Small	intestine
34	chr16:81818800-81819600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr16:81818800-81819800	Weak transcription	Fetal Kidney	kidney
36	chr16:81818800-81820200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr16:81818800-81820400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr16:81818800-81820600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr16:81819000-81819600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr16:81819000-81820600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
41	chr16:81819000-81824600	Weak transcription	Gastric	stomach

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