Variant report

Variant	rs11861147
Chromosome Location	chr16:81817899-81817900
allele	C/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	ZNF263	chr16:81817809-81818731	HEK293-T-REx	kidney:	n/a	n/a
5	WRNIP1	chr16:81817578-81818141	GM12878	blood:	n/a	n/a
6	CTCF	chr16:81817840-81817990	GM12864	blood:	n/a	n/a
7	POU2F2	chr16:81817615-81818188	GM12891	blood:	n/a	chr16:81817833-81817848 chr16:81817837-81817844
8	ZNF143	chr16:81817753-81817945	GM12878	blood:	n/a	n/a
9	MXI1	chr16:81817494-81818079	GM12878	blood:	n/a	n/a
10	CTCF	chr16:81817840-81817990	GM12873	blood:	n/a	n/a
11	POLR2A	chr16:81816374-81818124	GM12878	blood:	n/a	n/a
12	MAZ	chr16:81817529-81818004	GM12878	blood:	n/a	n/a
13	YY1	chr16:81817653-81818060	GM12892	blood:	n/a	n/a
14	EP300	chr16:81817705-81817949	GM12878	blood:	n/a	n/a
15	EBF1	chr16:81817017-81818156	GM12878	blood:	n/a	chr16:81817208-81817219
16	EBF1	chr16:81817524-81817920	GM12878	blood:	n/a	n/a
17	CTCF	chr16:81817640-81817910	GM12864	blood:	n/a	chr16:81817778-81817796
18	POLR2A	chr16:81817232-81818439	GM12878	blood:	n/a	n/a
19	YY1	chr16:81817583-81818068	GM12878	blood:	n/a	n/a
20	POU2F2	chr16:81817543-81818044	GM12878	blood:	n/a	chr16:81817833-81817848 chr16:81817837-81817844
21	PBX3	chr16:81817771-81817967	GM12878	blood:	n/a	n/a
22	POLR2A	chr16:81817345-81818091	Raji	blood:	n/a	n/a
23	BHLHE40	chr16:81817702-81817968	GM12878	blood:	n/a	n/a
24	POLR2A	chr16:81817054-81818140	GM12891	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	chr16:81811097..81813033-chr16:81817790..81820555,3	MCF-7	breast:
5	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	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11866195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12934353	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4281705	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4354929	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4476174	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4480797	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4561462	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4577082	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4580154	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6564920	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7499585	0.83[AMR][1000 genomes]
rs8045964	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8047206	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8052218	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9944386	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9944387	0.80[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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81814200-81818200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr16:81814200-81818200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr16:81814200-81818400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:81814400-81831800	Weak transcription	Adipose Nuclei	Adipose
5	chr16:81814600-81818000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr16:81814800-81818200	Enhancers	Primary hematopoietic stem cells	blood
7	chr16:81815200-81818600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr16:81815200-81830000	Weak transcription	Esophagus	oesophagus
9	chr16:81815400-81830600	Weak transcription	Thymus	Thymus
10	chr16:81816000-81818400	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr16:81816400-81818200	Enhancers	Fetal Intestine Large	intestine
12	chr16:81816400-81818200	Genic enhancers	Spleen	Spleen
13	chr16:81816400-81818800	Enhancers	Fetal Kidney	kidney
14	chr16:81816400-81819000	Enhancers	Small Intestine	intestine
15	chr16:81816400-81820200	Enhancers	Pancreas	Pancrea
16	chr16:81816400-81820400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr16:81816800-81818000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr16:81816800-81818400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr16:81816800-81822200	Weak transcription	Colonic Mucosa	Colon
20	chr16:81817000-81818400	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr16:81817000-81818600	Enhancers	Fetal Intestine Small	intestine
22	chr16:81817200-81818200	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr16:81817200-81818600	Enhancers	Liver	Liver
24	chr16:81817200-81818600	Enhancers	Colon Smooth Muscle	Colon
25	chr16:81817200-81818600	Bivalent Enhancer	Stomach Mucosa	stomach
26	chr16:81817200-81819000	Enhancers	Left Ventricle	heart
27	chr16:81817400-81818200	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr16:81817400-81822200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr16:81817600-81818000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr16:81817600-81818000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr16:81817600-81818000	Bivalent Enhancer	HepG2	liver
32	chr16:81817600-81818400	Enhancers	Gastric	stomach
33	chr16:81817600-81818600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr16:81817600-81818600	Enhancers	Right Ventricle	heart
35	chr16:81817600-81819600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr16:81817800-81818000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr16:81817800-81818000	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr16:81817800-81818000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr16:81817800-81818200	Enhancers	Lung	lung
40	chr16:81817800-81818200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr16:81817800-81818200	Flanking Active TSS	Rectal Smooth Muscle	rectum
42	chr16:81817800-81818400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr16:81817800-81818600	Enhancers	Right Atrium	heart
44	chr16:81817800-81819400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr16:81817800-81824000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood

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