Variant report

Variant	rs73504542
Chromosome Location	chr11:75477937-75477938
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	MAX	chr11:75477922-75477950	GM12878	blood:	n/a	n/a
2	MAX	chr11:75477821-75478697	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr11:75477907-75478714	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr11:75477597-75478177	GM12878	blood:	n/a	n/a
5	WRNIP1	chr11:75477666-75478047	GM12878	blood:	n/a	n/a
6	MAX	chr11:75477773-75478674	H1-hESC	embryonic stem cell:	n/a	n/a
7	E2F6	chr11:75477812-75480302	H1-hESC	embryonic stem cell:	n/a	chr11:75479823-75479833

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75476760..75478593-chr11:75501149..75503390,2	K562	blood:
2	chr11:75477223..75481853-chr11:75500623..75503657,5	MCF-7	breast:

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

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2305951	0.86[ASN][1000 genomes]
rs59496159	0.84[ASN][1000 genomes]
rs73502500	0.82[ASN][1000 genomes]
rs73504529	0.95[ASN][1000 genomes]
rs73504539	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73504545	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75472600-75478600	Weak transcription	Fetal Intestine Small	intestine
2	chr11:75473400-75478400	Weak transcription	Lung	lung
3	chr11:75474800-75479000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:75475200-75478200	Weak transcription	Spleen	Spleen
5	chr11:75475200-75479000	Weak transcription	Pancreas	Pancrea
6	chr11:75475600-75479200	Weak transcription	HMEC	breast
7	chr11:75475800-75478800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:75475800-75478800	Weak transcription	Liver	Liver
9	chr11:75476200-75478800	Enhancers	HepG2	liver
10	chr11:75477000-75479000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:75477000-75479000	Enhancers	GM12878-XiMat	blood
12	chr11:75477000-75479200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr11:75477000-75479200	Enhancers	Adipose Nuclei	Adipose
14	chr11:75477200-75478200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr11:75477400-75479000	Weak transcription	Gastric	stomach
16	chr11:75477600-75479000	Enhancers	K562	blood
17	chr11:75477800-75478000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr11:75477800-75478000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr11:75477800-75478400	Weak transcription	Right Atrium	heart
20	chr11:75477800-75478600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr11:75477800-75478600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:75477800-75479000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:75477800-75479000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr11:75477800-75479200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:75477800-75479200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:75477800-75479200	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr11:75477800-75479400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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