Variant report

Variant	rs577417686
Chromosome Location	chr11:72500575-72500576
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	ZBTB7A	chr11:72500465-72500671	HepG2	liver:	n/a	n/a
5	ESR1	chr11:72500503-72501053	ECC-1	luminal epithelium:	n/a	chr11:72500654-72500671
6	POLR2A	chr11:72500480-72500832	HepG2	liver:	n/a	n/a
7	HNF4A	chr11:72500423-72500885	HepG2	liver:	n/a	chr11:72500776-72500789 chr11:72500775-72500788 chr11:72500776-72500788 chr11:72500775-72500790 chr11:72500773-72500791 chr11:72500775-72500789 chr11:72500776-72500788 chr11:72500776-72500788 chr11:72500775-72500790 chr11:72500775-72500790 chr11:72500776-72500788 chr11:72500777-72500789
8	TEAD4	chr11:72500428-72500911	HepG2	liver:	n/a	chr11:72500679-72500688
9	HNF4G	chr11:72500371-72500929	HepG2	liver:	n/a	chr11:72500776-72500789 chr11:72500383-72500395 chr11:72500775-72500788 chr11:72500383-72500395 chr11:72500776-72500788 chr11:72500383-72500395 chr11:72500775-72500790 chr11:72500773-72500791 chr11:72500775-72500789 chr11:72500776-72500788 chr11:72500776-72500788 chr11:72500775-72500790 chr11:72500775-72500790 chr11:72500776-72500788 chr11:72500777-72500789
10	MAZ	chr11:72500356-72501522	IMR90	lung:	n/a	chr11:72500504-72500514 chr11:72500704-72500711

No.	Distal block	Cell Line	Cell type
1	chr11:72487526..72509577-chr11:72522325..72536312,93	MCF-7	breast:
2	chr11:72486581..72489149-chr11:72499253..72500908,2	K562	blood:
3	chr11:72459780..72464369-chr11:72496820..72501695,6	MCF-7	breast:

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

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3471108	chr11:72499831-72500593	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72493600-72502400	Enhancers	Stomach Mucosa	stomach
2	chr11:72493800-72500600	Weak transcription	Brain Substantia Nigra	brain
3	chr11:72493800-72501200	Enhancers	Duodenum Mucosa	Duodenum
4	chr11:72493800-72503200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr11:72493800-72503600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:72493800-72504200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:72493800-72504200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:72494000-72503400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:72494000-72503600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr11:72494000-72504400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:72494000-72504400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:72494200-72501800	Enhancers	Fetal Intestine Large	intestine
13	chr11:72494200-72503400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr11:72495000-72500600	Weak transcription	Fetal Brain Male	brain
15	chr11:72496000-72501400	Enhancers	Placenta	Placenta
16	chr11:72497000-72501200	Enhancers	Gastric	stomach
17	chr11:72497200-72500800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:72497200-72501200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr11:72498400-72501600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr11:72498400-72502000	Enhancers	Fetal Heart	heart
21	chr11:72498400-72502200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr11:72498600-72500600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr11:72498600-72503600	Weak transcription	Thymus	Thymus
24	chr11:72498800-72503800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:72498800-72504200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:72499000-72500800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:72499000-72501000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:72499000-72501000	Enhancers	Adipose Nuclei	Adipose
29	chr11:72499000-72501400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr11:72499000-72504000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr11:72499000-72504000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:72499000-72504400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:72499200-72500600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:72499200-72500800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:72499200-72502400	Enhancers	Liver	Liver
36	chr11:72499400-72500800	Weak transcription	Brain Germinal Matrix	brain
37	chr11:72499400-72501000	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr11:72499400-72501000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr11:72499400-72501800	Enhancers	Right Ventricle	heart
40	chr11:72499400-72503600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:72499400-72503600	Weak transcription	Fetal Thymus	thymus
42	chr11:72499400-72504400	Weak transcription	Pancreas	Pancrea
43	chr11:72499600-72500600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:72499600-72500600	Weak transcription	K562	blood
45	chr11:72499600-72502000	Weak transcription	GM12878-XiMat	blood
46	chr11:72499600-72502200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr11:72499600-72503400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr11:72499600-72503400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:72499600-72503400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr11:72499600-72503400	Weak transcription	Spleen	Spleen

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