Variant report

Variant	rs73545310
Chromosome Location	chr11:72501186-72501187
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	chr11:72500299-72501221	HepG2	liver:	n/a	chr11:72500504-72500514 chr11:72500704-72500711
2	TEAD4	chr11:72500504-72501290	ECC-1	luminal epithelium:	n/a	chr11:72500679-72500688 chr11:72501022-72501031
3	RCOR1	chr11:72500317-72501405	IMR90	lung:	n/a	n/a
4	ZNF263	chr11:72500686-72501204	K562	blood:	n/a	n/a
5	EP300	chr11:72500576-72501342	ECC-1	luminal epithelium:	n/a	n/a
6	TCF12	chr11:72500620-72501295	ECC-1	luminal epithelium:	n/a	chr11:72500682-72500690 chr11:72500806-72500813
7	TCF12	chr11:72500584-72501203	ECC-1	luminal epithelium:	n/a	chr11:72500682-72500690 chr11:72500806-72500813
8	ZNF263	chr11:72500598-72501328	HEK293-T-REx	kidney:	n/a	chr11:72501278-72501287
9	TEAD4	chr11:72500601-72501197	ECC-1	luminal epithelium:	n/a	chr11:72500679-72500688 chr11:72501022-72501031
10	POLR2A	chr11:72501101-72501371	HepG2	liver:	n/a	n/a
11	CTCF	chr11:72501120-72501270	AG04449	skin:	n/a	n/a
12	NFIC	chr11:72500581-72501201	ECC-1	luminal epithelium:	n/a	n/a
13	MAZ	chr11:72500356-72501522	IMR90	lung:	n/a	chr11:72500504-72500514 chr11:72500704-72500711

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72487526..72509577-chr11:72522325..72536312,93	MCF-7	breast:
2	chr11:72459780..72464369-chr11:72496820..72501695,6	MCF-7	breast:

Variant related genes	Relation type
STARD10	TF binding region
ENSG00000186635	Chromatin interaction
ENSG00000168010	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs60288681	1.00[AMR][1000 genomes]
rs60718050	1.00[AMR][1000 genomes]
rs73532927	1.00[AMR][1000 genomes]
rs73534926	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	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv825992	chr11:72476174-72524295	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72493600-72502400	Enhancers	Stomach Mucosa	stomach
2	chr11:72493800-72501200	Enhancers	Duodenum Mucosa	Duodenum
3	chr11:72493800-72503200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr11:72493800-72503600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:72493800-72504200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:72493800-72504200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:72494000-72503400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:72494000-72503600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr11:72494000-72504400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:72494000-72504400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:72494200-72501800	Enhancers	Fetal Intestine Large	intestine
12	chr11:72494200-72503400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr11:72496000-72501400	Enhancers	Placenta	Placenta
14	chr11:72497000-72501200	Enhancers	Gastric	stomach
15	chr11:72497200-72501200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr11:72498400-72501600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr11:72498400-72502000	Enhancers	Fetal Heart	heart
18	chr11:72498400-72502200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr11:72498600-72503600	Weak transcription	Thymus	Thymus
20	chr11:72498800-72503800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:72498800-72504200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:72499000-72501400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr11:72499000-72504000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr11:72499000-72504000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:72499000-72504400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:72499200-72502400	Enhancers	Liver	Liver
27	chr11:72499400-72501800	Enhancers	Right Ventricle	heart
28	chr11:72499400-72503600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:72499400-72503600	Weak transcription	Fetal Thymus	thymus
30	chr11:72499400-72504400	Weak transcription	Pancreas	Pancrea
31	chr11:72499600-72502000	Weak transcription	GM12878-XiMat	blood
32	chr11:72499600-72502200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr11:72499600-72503400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr11:72499600-72503400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:72499600-72503400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr11:72499600-72503400	Weak transcription	Spleen	Spleen
37	chr11:72499600-72503600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:72499600-72503800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:72499800-72503600	Weak transcription	Hela-S3	cervix
40	chr11:72500000-72501400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:72500000-72501400	Enhancers	Fetal Muscle Leg	muscle
42	chr11:72500200-72501400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:72500200-72501400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:72500200-72501400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:72500200-72501400	Enhancers	Aorta	Aorta
46	chr11:72500200-72501600	Enhancers	Lung	lung
47	chr11:72500200-72501800	Enhancers	Fetal Muscle Trunk	muscle
48	chr11:72500200-72501800	Enhancers	Left Ventricle	heart
49	chr11:72500200-72501800	Enhancers	NHDF-Ad	bronchial
50	chr11:72500200-72502000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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