Variant report

Variant	rs28719552
Chromosome Location	chr11:72982642-72982643
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	IRF4	chr11:72982474-72982820	GM12878	blood:	n/a	n/a
2	NFIC	chr11:72982529-72982842	GM12878	blood:	n/a	n/a
3	CEBPB	chr11:72982553-72982669	A549	lung:	n/a	chr11:72982600-72982611
4	GATA3	chr11:72982439-72983324	SH-SY5Y	brain:	n/a	chr11:72982906-72982915 chr11:72982897-72982914
5	IRF4	chr11:72982305-72982957	GM12878	blood:	n/a	n/a
6	TCF12	chr11:72982571-72982769	GM12878	blood:	n/a	n/a
7	MXI1	chr11:72982078-72985057	SK-N-SH	brain:	n/a	n/a
8	TCF12	chr11:72982429-72982813	GM12878	blood:	n/a	n/a
9	EP300	chr11:72979726-72985647	SK-N-SH	brain:	n/a	chr11:72985619-72985633 chr11:72984138-72984152 chr11:72981442-72981455 chr11:72984140-72984154 chr11:72984139-72984153 chr11:72981929-72981945
10	SPI1	chr11:72982456-72982967	GM12891	blood:	n/a	n/a
11	GATA2	chr11:72982000-72983436	SH-SY5Y	brain:	n/a	chr11:72982906-72982915 chr11:72982897-72982914
12	RUNX3	chr11:72982511-72982934	GM12878	blood:	n/a	n/a
13	BCL11A	chr11:72982490-72982912	GM12878	blood:	n/a	n/a
14	SPI1	chr11:72982432-72983082	GM12878	blood:	n/a	chr11:72983044-72983057
15	CEBPB	chr11:72982526-72982720	HepG2	liver:	n/a	chr11:72982600-72982611
16	SP1	chr11:72982457-72982786	HepG2	liver:	n/a	n/a
17	SPI1	chr11:72982574-72982934	GM12878	blood:	n/a	n/a
18	PAX5	chr11:72982292-72982892	GM12878	blood:	n/a	n/a
19	SPI1	chr11:72982450-72982932	GM12891	blood:	n/a	n/a
20	MTA3	chr11:72982482-72983309	GM12878	blood:	n/a	n/a
21	BCL11A	chr11:72982517-72982811	GM12878	blood:	n/a	n/a
22	NR2F2	chr11:72982588-72982764	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72980434..72984433-chr11:73015744..73020345,4	MCF-7	breast:
2	chr11:72974009..72977358-chr11:72978806..72983362,4	MCF-7	breast:
3	chr11:72979299..72983458-chr11:73018365..73020880,3	MCF-7	breast:
4	chr11:72976176..72978838-chr11:72980809..72982762,2	K562	blood:

Variant related genes	Relation type
P2RY6	TF binding region
ENSG00000171631	Chromatin interaction
ENSG00000257038	Chromatin interaction
ENSG00000110237	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12280876	1.00[EUR][1000 genomes]
rs12284174	1.00[EUR][1000 genomes]
rs12291164	1.00[EUR][1000 genomes]
rs1540107	1.00[AMR][1000 genomes]
rs3933402	1.00[EUR][1000 genomes]
rs55851019	1.00[EUR][1000 genomes]
rs56912720	1.00[AMR][1000 genomes]
rs57717477	1.00[AMR][1000 genomes]
rs57808420	1.00[AMR][1000 genomes]
rs58053874	1.00[EUR][1000 genomes]
rs58151541	1.00[AMR][1000 genomes]
rs58460917	1.00[EUR][1000 genomes]
rs58995758	1.00[EUR][1000 genomes]
rs59268601	1.00[EUR][1000 genomes]
rs59534715	1.00[AMR][1000 genomes]
rs59804106	1.00[EUR][1000 genomes]
rs60206663	1.00[EUR][1000 genomes]
rs60610185	1.00[EUR][1000 genomes]
rs60687321	1.00[AMR][1000 genomes]
rs60779105	1.00[EUR][1000 genomes]
rs60950530	1.00[AMR][1000 genomes]
rs61086238	1.00[EUR][1000 genomes]
rs61122124	1.00[EUR][1000 genomes]
rs61400770	1.00[EUR][1000 genomes]
rs61654355	1.00[EUR][1000 genomes]
rs7111021	1.00[EUR][1000 genomes]
rs7119632	1.00[EUR][1000 genomes]
rs7119975	1.00[EUR][1000 genomes]
rs7122979	1.00[EUR][1000 genomes]
rs7123114	1.00[EUR][1000 genomes]
rs7123218	1.00[EUR][1000 genomes]
rs7127143	1.00[EUR][1000 genomes]
rs7127412	1.00[EUR][1000 genomes]
rs73536833	1.00[AMR][1000 genomes]
rs7935288	1.00[AMR][1000 genomes]
rs947836	1.00[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	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72976400-72984800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr11:72977000-72983200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:72977200-72991600	Weak transcription	Osteobl	bone
4	chr11:72978000-72982800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:72978000-72986000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:72978800-72982800	Weak transcription	HSMMtube	muscle
7	chr11:72979000-72984200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr11:72979800-72984000	Enhancers	Spleen	Spleen
9	chr11:72980000-72983600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:72980400-72983400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr11:72980400-72983600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:72980400-72987200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr11:72980400-72998400	Weak transcription	Right Atrium	heart
14	chr11:72980600-72983000	Enhancers	Duodenum Mucosa	Duodenum
15	chr11:72980600-72984000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr11:72981200-72982800	Enhancers	A549	lung
17	chr11:72981200-72985600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:72981200-72985600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:72981200-72991000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:72981400-72982800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:72981400-72983000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:72981400-72983000	Weak transcription	Esophagus	oesophagus
23	chr11:72981400-72983400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:72981600-72982800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:72981600-72982800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:72981600-72982800	Weak transcription	HMEC	breast
27	chr11:72981600-72982800	Weak transcription	NHEK	skin
28	chr11:72981600-72983000	Weak transcription	Left Ventricle	heart
29	chr11:72981600-72983200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:72981600-72984000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:72981600-72984400	Weak transcription	Lung	lung
32	chr11:72981800-72982800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr11:72981800-72983000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:72981800-72983200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:72981800-72983400	Weak transcription	Fetal Muscle Leg	muscle
36	chr11:72981800-72984000	Enhancers	Fetal Heart	heart
37	chr11:72982000-72982800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:72982000-72984400	Weak transcription	Fetal Lung	lung
39	chr11:72982000-72984800	Weak transcription	Small Intestine	intestine
40	chr11:72982200-72982800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr11:72982200-72982800	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr11:72982200-72983000	Enhancers	Primary B cells from peripheral blood	blood
43	chr11:72982200-72983000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr11:72982200-72983000	Flanking Active TSS	GM12878-XiMat	blood
45	chr11:72982200-72983400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr11:72982200-72983400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr11:72982400-72983400	Flanking Active TSS	HepG2	liver
48	chr11:72982600-72983000	Enhancers	Placenta	Placenta
49	chr11:72982600-72983200	Enhancers	Fetal Intestine Small	intestine
50	chr11:72982600-72986000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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