Variant report

Variant	rs73504565
Chromosome Location	chr11:75492074-75492075
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	GATA2	chr11:75491883-75492322	SH-SY5Y	brain:	n/a	n/a
2	SIN3AK20	chr11:75491807-75492620	MCF-7	breast:	n/a	n/a
3	POLR2A	chr11:75492067-75492140	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75484226..75489895-chr11:75490274..75493949,6	K562	blood:
2	chr11:75482948..75485726-chr11:75491815..75493587,2	K562	blood:
3	chr11:75490596..75492351-chr11:75500021..75501846,2	MCF-7	breast:
4	chr11:75487408..75492823-chr11:75500616..75503044,5	MCF-7	breast:

Variant related genes	Relation type
DGAT2	TF binding region
ENSG00000254826	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]
rs73504569	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:33 , 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	chr11:75481400-75493800	Weak transcription	Stomach Mucosa	stomach
4	chr11:75481800-75500800	Weak transcription	Esophagus	oesophagus
5	chr11:75483000-75494200	Strong transcription	Fetal Intestine Small	intestine
6	chr11:75483000-75494800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr11:75484800-75503800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:75486600-75495000	Genic enhancers	Adipose Nuclei	Adipose
9	chr11:75489000-75493800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:75489000-75498400	Weak transcription	Spleen	Spleen
11	chr11:75489200-75498800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:75489200-75508200	Weak transcription	GM12878-XiMat	blood
13	chr11:75489400-75494000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:75489600-75495400	Enhancers	Liver	Liver
15	chr11:75490200-75493000	Enhancers	Brain Anterior Caudate	brain
16	chr11:75490800-75504600	Weak transcription	Fetal Stomach	stomach
17	chr11:75491000-75493600	Enhancers	HepG2	liver
18	chr11:75491200-75493200	Strong transcription	Fetal Intestine Large	intestine
19	chr11:75491400-75494000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:75491400-75494000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:75491400-75496600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:75491600-75492200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
23	chr11:75491600-75492800	Enhancers	Placenta	Placenta
24	chr11:75491600-75493200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr11:75491600-75493800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr11:75491600-75494200	Weak transcription	Fetal Thymus	thymus
27	chr11:75491600-75495600	Weak transcription	Primary B cells from cord blood	blood
28	chr11:75492000-75493800	Weak transcription	Ovary	ovary
29	chr11:75492000-75494000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:75492000-75494600	Weak transcription	Pancreas	Pancrea
31	chr11:75492000-75495400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:75492000-75496200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr11:75492000-75503600	Weak transcription	Right Ventricle	heart

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