Variant report

Variant	rs8052218
Chromosome Location	chr16:81817606-81817607
allele	A/G/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	STAT1	chr16:81817581-81817993	GM12878	blood:	n/a	n/a
2	POU2F2	chr16:81817605-81818044	GM12878	blood:	n/a	chr16:81817833-81817848 chr16:81817837-81817844
3	CHD2	chr16:81817584-81817918	GM12878	blood:	n/a	n/a
4	CTCF	chr16:81817540-81817690	GM12872	blood:	n/a	n/a
5	CTCF	chr16:81817500-81817650	GM12873	blood:	n/a	n/a
6	WRNIP1	chr16:81817578-81818141	GM12878	blood:	n/a	n/a
7	CTCF	chr16:81817540-81817690	GM12865	blood:	n/a	n/a
8	CTCF	chr16:81817460-81817610	GM12864	blood:	n/a	n/a
9	MXI1	chr16:81817494-81818079	GM12878	blood:	n/a	n/a
10	POLR2A	chr16:81816374-81818124	GM12878	blood:	n/a	n/a
11	MAZ	chr16:81817529-81818004	GM12878	blood:	n/a	n/a
12	CTCF	chr16:81817540-81817690	GM12871	blood:	n/a	n/a
13	EBF1	chr16:81817017-81818156	GM12878	blood:	n/a	chr16:81817208-81817219
14	CTCF	chr16:81817520-81817670	GM12866	blood:	n/a	n/a
15	NRF1	chr16:81817515-81817714	GM12878	blood:	n/a	n/a
16	EBF1	chr16:81817524-81817920	GM12878	blood:	n/a	n/a
17	CTCF	chr16:81817600-81817750	GM12867	blood:	n/a	n/a
18	POLR2A	chr16:81817232-81818439	GM12878	blood:	n/a	n/a
19	YY1	chr16:81817583-81818068	GM12878	blood:	n/a	n/a
20	CTCF	chr16:81817520-81817670	GM12871	blood:	n/a	n/a
21	POU2F2	chr16:81817543-81818044	GM12878	blood:	n/a	chr16:81817833-81817848 chr16:81817837-81817844
22	CTCF	chr16:81817480-81817630	GM12873	blood:	n/a	n/a
23	POLR2A	chr16:81817345-81818091	Raji	blood:	n/a	n/a
24	POLR2A	chr16:81817054-81818140	GM12891	blood:	n/a	n/a
25	CTCF	chr16:81817520-81817670	GM12870	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81816216..81818733-chr16:81825136..81827386,3	MCF-7	breast:
2	chr16:81797999..81801347-chr16:81816788..81819306,3	K562	blood:
3	chr16:81815474..81817906-chr16:81818108..81820876,3	K562	blood:
4	chr16:81816161..81818114-chr16:81818804..81820876,2	K562	blood:

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

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11642139	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11861147	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11866195	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12934353	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4281705	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4354929	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4476174	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4480797	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4561462	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4577082	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4580154	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6564920	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7499585	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8045964	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8047206	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9944386	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9944387	0.82[AMR][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	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81813800-81817800	Weak transcription	Right Atrium	heart
2	chr16:81814200-81818200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr16:81814200-81818200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr16:81814200-81818400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:81814400-81831800	Weak transcription	Adipose Nuclei	Adipose
6	chr16:81814600-81818000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr16:81814800-81817800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr16:81814800-81818200	Enhancers	Primary hematopoietic stem cells	blood
9	chr16:81815200-81818600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr16:81815200-81830000	Weak transcription	Esophagus	oesophagus
11	chr16:81815400-81830600	Weak transcription	Thymus	Thymus
12	chr16:81816000-81818400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr16:81816400-81818200	Enhancers	Fetal Intestine Large	intestine
14	chr16:81816400-81818200	Genic enhancers	Spleen	Spleen
15	chr16:81816400-81818800	Enhancers	Fetal Kidney	kidney
16	chr16:81816400-81819000	Enhancers	Small Intestine	intestine
17	chr16:81816400-81820200	Enhancers	Pancreas	Pancrea
18	chr16:81816400-81820400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr16:81816800-81817800	Weak transcription	Lung	lung
20	chr16:81816800-81818000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr16:81816800-81818400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr16:81816800-81822200	Weak transcription	Colonic Mucosa	Colon
23	chr16:81817000-81818400	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr16:81817000-81818600	Enhancers	Fetal Intestine Small	intestine
25	chr16:81817200-81818200	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr16:81817200-81818600	Enhancers	Liver	Liver
27	chr16:81817200-81818600	Enhancers	Colon Smooth Muscle	Colon
28	chr16:81817200-81818600	Bivalent Enhancer	Stomach Mucosa	stomach
29	chr16:81817200-81819000	Enhancers	Left Ventricle	heart
30	chr16:81817400-81817800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr16:81817400-81817800	Enhancers	Primary B cells from peripheral blood	blood
32	chr16:81817400-81817800	Flanking Active TSS	GM12878-XiMat	blood
33	chr16:81817400-81818200	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr16:81817400-81822200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr16:81817600-81817800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr16:81817600-81817800	Active TSS	Rectal Smooth Muscle	rectum
37	chr16:81817600-81818000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr16:81817600-81818000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr16:81817600-81818000	Bivalent Enhancer	HepG2	liver
40	chr16:81817600-81818400	Enhancers	Gastric	stomach
41	chr16:81817600-81818600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr16:81817600-81818600	Enhancers	Right Ventricle	heart
43	chr16:81817600-81819600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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