Variant report

Variant	rs73504569
Chromosome Location	chr11:75494066-75494067
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	chr11:75493451-75494595	HepG2	liver:	n/a	n/a
2	RFX5	chr11:75494018-75494296	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:75493348-75495520	HepG2	liver:	n/a	n/a
4	ZBTB7A	chr11:75494027-75494377	HepG2	liver:	n/a	n/a
5	HNF4A	chr11:75493710-75494373	HepG2	liver:	n/a	chr11:75493802-75493810
6	RXRA	chr11:75493568-75494361	HepG2	liver:	n/a	chr11:75493617-75493633 chr11:75493694-75493707 chr11:75493694-75493707 chr11:75493693-75493707 chr11:75493691-75493711 chr11:75493694-75493707
7	NFIC	chr11:75493455-75494646	HepG2	liver:	n/a	n/a
8	JUND	chr11:75493594-75494561	HepG2	liver:	n/a	n/a
9	NFIC	chr11:75493595-75494412	HepG2	liver:	n/a	n/a
10	MYBL2	chr11:75493503-75494562	HepG2	liver:	n/a	n/a
11	HNF4G	chr11:75493651-75494434	HepG2	liver:	n/a	chr11:75493692-75493710 chr11:75493694-75493708 chr11:75493802-75493810
12	HNF4A	chr11:75493620-75494417	HepG2	liver:	n/a	chr11:75493692-75493710 chr11:75493694-75493708 chr11:75493802-75493810
13	FOXA2	chr11:75493387-75494618	HepG2	liver:	n/a	chr11:75494127-75494139
14	RAD21	chr11:75494010-75494391	HepG2	liver:	n/a	chr11:75494349-75494363
15	TBP	chr11:75493619-75494376	HepG2	liver:	n/a	n/a
16	ARID3A	chr11:75493919-75494457	HepG2	liver:	n/a	n/a
17	MAZ	chr11:75493714-75494369	HepG2	liver:	n/a	n/a
18	MAFF	chr11:75493741-75494326	HepG2	liver:	n/a	n/a
19	RAD21	chr11:75493849-75494390	HepG2	liver:	n/a	chr11:75494349-75494363
20	MBD4	chr11:75493399-75494518	HepG2	liver:	n/a	n/a
21	HEY1	chr11:75493641-75494368	HepG2	liver:	n/a	n/a
22	SP1	chr11:75493615-75494512	HepG2	liver:	n/a	chr11:75494345-75494352
23	HEY1	chr11:75493597-75494449	HepG2	liver:	n/a	n/a
24	RCOR1	chr11:75493648-75494338	HepG2	liver:	n/a	n/a
25	FOXA1	chr11:75493556-75494426	HepG2	liver:	n/a	chr11:75494127-75494139
26	POLR2A	chr11:75493509-75494776	HepG2	liver:	n/a	n/a
27	FOXA1	chr11:75493570-75494434	HepG2	liver:	n/a	chr11:75494127-75494139
28	SMC3	chr11:75493633-75494320	HepG2	liver:	n/a	n/a
29	EP300	chr11:75493728-75494279	HepG2	liver:	n/a	n/a
30	MYBL2	chr11:75493235-75494533	HepG2	liver:	n/a	n/a
31	POLR2A	chr11:75493737-75494380	HepG2	liver:	n/a	n/a
32	EP300	chr11:75493493-75495677	HepG2	liver:	n/a	n/a
33	FOXA1	chr11:75493624-75494318	HepG2	liver:	n/a	chr11:75494127-75494139
34	RAD21	chr11:75493630-75494464	HepG2	liver:	n/a	chr11:75494349-75494363
35	MBD4	chr11:75493830-75494459	HepG2	liver:	n/a	n/a
36	HDAC2	chr11:75493778-75494444	HepG2	liver:	n/a	chr11:75494371-75494385 chr11:75494370-75494384 chr11:75494130-75494139
37	FOSL2	chr11:75493565-75494412	HepG2	liver:	n/a	n/a
38	FOXA2	chr11:75493623-75494416	HepG2	liver:	n/a	chr11:75494127-75494139
39	HNF4A	chr11:75493963-75494610	HepG2	liver:	n/a	chr11:75494541-75494555 chr11:75494546-75494558 chr11:75494541-75494555 chr11:75494537-75494559 chr11:75494541-75494554
40	MAFK	chr11:75493770-75494281	HepG2	liver:	n/a	n/a
41	HNF4G	chr11:75493520-75494488	HepG2	liver:	n/a	chr11:75493692-75493710 chr11:75493694-75493708 chr11:75493802-75493810
42	TEAD4	chr11:75493547-75494511	HepG2	liver:	n/a	n/a
43	HDAC2	chr11:75493546-75494485	HepG2	liver:	n/a	chr11:75494371-75494385 chr11:75494370-75494384 chr11:75494130-75494139
44	FOXA1	chr11:75493537-75494343	HepG2	liver:	n/a	chr11:75494127-75494139

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75492539..75494270-chr11:75498509..75500179,2	K562	blood:
2	chr11:75493435..75496040-chr11:75505908..75507945,2	MCF-7	breast:

Variant related genes	Relation type
DGAT2	TF binding region
ENSG00000062282	Chromatin interaction

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

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

rs_ID	r²[population]
rs11825799	0.89[AFR][1000 genomes]
rs61459412	0.95[AFR][1000 genomes]
rs7102789	0.96[AFR][1000 genomes]
rs73489931	0.96[AFR][1000 genomes]
rs73489936	0.88[AFR][1000 genomes]
rs73489937	0.88[AFR][1000 genomes]
rs73489941	0.88[AFR][1000 genomes]
rs73489942	0.88[AFR][1000 genomes]
rs73489943	0.88[AFR][1000 genomes]
rs73504563	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504572	0.96[AFR][1000 genomes]
rs73504578	0.93[AFR][1000 genomes]
rs73504590	0.95[AFR][1000 genomes]
rs7929403	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7933029	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv897925	chr11:75456134-75556323	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75480600-75496400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:75481000-75506600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:75481800-75500800	Weak transcription	Esophagus	oesophagus
4	chr11:75483000-75494200	Strong transcription	Fetal Intestine Small	intestine
5	chr11:75483000-75494800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:75484800-75503800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:75486600-75495000	Genic enhancers	Adipose Nuclei	Adipose
8	chr11:75489000-75498400	Weak transcription	Spleen	Spleen
9	chr11:75489200-75498800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:75489200-75508200	Weak transcription	GM12878-XiMat	blood
11	chr11:75489600-75495400	Enhancers	Liver	Liver
12	chr11:75490800-75504600	Weak transcription	Fetal Stomach	stomach
13	chr11:75491400-75496600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:75491600-75494200	Weak transcription	Fetal Thymus	thymus
15	chr11:75491600-75495600	Weak transcription	Primary B cells from cord blood	blood
16	chr11:75492000-75494600	Weak transcription	Pancreas	Pancrea
17	chr11:75492000-75495400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:75492000-75496200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr11:75492000-75503600	Weak transcription	Right Ventricle	heart
20	chr11:75493000-75504400	Weak transcription	Brain Anterior Caudate	brain
21	chr11:75493600-75494600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:75493600-75495600	Flanking Active TSS	HepG2	liver
23	chr11:75493800-75494200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:75493800-75494200	Genic enhancers	Monocytes-CD14+_RO01746	blood
25	chr11:75493800-75494400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:75493800-75494400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
27	chr11:75493800-75494600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr11:75493800-75494600	Enhancers	Osteobl	bone
29	chr11:75493800-75495600	Enhancers	Fetal Intestine Large	intestine
30	chr11:75493800-75498800	Enhancers	Stomach Mucosa	stomach
31	chr11:75494000-75494600	Enhancers	Primary hematopoietic stem cells	blood
32	chr11:75494000-75494600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:75494000-75494600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr11:75494000-75494600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:75494000-75495000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr11:75494000-75495600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links