Variant report

Variant	rs541745515
Chromosome Location	chr11:65554174-65554175
allele	A/C
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	chr11:65553761-65555125	ECC-1	luminal epithelium:	n/a	chr11:65554464-65554474 chr11:65554157-65554167
2	MAX	chr11:65553701-65555122	MCF-7	breast:	n/a	chr11:65554464-65554474 chr11:65554157-65554167
3	TEAD4	chr11:65554117-65554898	ECC-1	luminal epithelium:	n/a	n/a
4	NFIC	chr11:65553857-65554853	ECC-1	luminal epithelium:	n/a	n/a
5	MAX	chr11:65553717-65556062	H1-hESC	embryonic stem cell:	n/a	chr11:65554464-65554474 chr11:65555943-65555953 chr11:65555243-65555253 chr11:65554157-65554167 chr11:65555486-65555495
6	NR2F2	chr11:65553895-65554609	MCF-7	breast:	n/a	n/a
7	MAX	chr11:65553767-65555136	ECC-1	luminal epithelium:	n/a	chr11:65554464-65554474 chr11:65554157-65554167
8	SIN3AK20	chr11:65554103-65554979	HCT-116	colon:	n/a	n/a
9	GATA3	chr11:65553847-65554829	MCF-7	breast:	n/a	chr11:65553964-65553972
10	SIN3AK20	chr11:65554001-65555003	HCT-116	colon:	n/a	n/a
11	EP300	chr11:65553908-65554430	T-47D	breast:	n/a	chr11:65554230-65554239
12	ZBTB7A	chr11:65553850-65554572	ECC-1	luminal epithelium:	n/a	n/a
13	SIN3AK20	chr11:65553765-65556882	MCF-7	breast:	n/a	n/a
14	MAX	chr11:65553720-65554983	MCF-7	breast:	n/a	chr11:65554464-65554474 chr11:65554157-65554167
15	MYC	chr11:65554098-65554183	MCF-7	breast:	n/a	chr11:65554157-65554167
16	HA-E2F1	chr11:65553705-65554275	MCF-7	breast:	n/a	chr11:65553982-65553991 chr11:65554032-65554044 chr11:65553984-65553994
17	E2F6	chr11:65553815-65554426	H1-hESC	embryonic stem cell:	n/a	chr11:65554397-65554406 chr11:65553982-65553991 chr11:65554032-65554044 chr11:65553984-65553994
18	GATA3	chr11:65553720-65554930	MCF-7	breast:	n/a	chr11:65553964-65553972
19	HDAC2	chr11:65553811-65555066	MCF-7	breast:	n/a	n/a
20	HDAC2	chr11:65553909-65554954	MCF-7	breast:	n/a	n/a
21	SIN3AK20	chr11:65553762-65554973	MCF-7	breast:	n/a	n/a
22	E2F6	chr11:65553549-65554277	H1-hESC	embryonic stem cell:	n/a	chr11:65553982-65553991 chr11:65554032-65554044 chr11:65553984-65553994
23	TCF12	chr11:65554045-65554751	ECC-1	luminal epithelium:	n/a	n/a
24	TEAD4	chr11:65554132-65554874	ECC-1	luminal epithelium:	n/a	n/a
25	NR2F2	chr11:65553808-65554765	MCF-7	breast:	n/a	n/a
26	TCF12	chr11:65553852-65555011	ECC-1	luminal epithelium:	n/a	n/a
27	ELF1	chr11:65554103-65555120	MCF-7	breast:	n/a	chr11:65554979-65554988 chr11:65554230-65554242 chr11:65554468-65554480 chr11:65554165-65554177

No.	Distal block	Cell Line	Cell type
1	chr11:65552279..65555050-chr11:65558664..65561977,4	K562	blood:
2	chr11:65544951..65562337-chr11:65623093..65630859,34	MCF-7	breast:
3	chr11:65338114..65341460-chr11:65551554..65554469,3	MCF-7	breast:
4	chr11:65553472..65554428-chr11:65585631..65586383,2	MCF-7	breast:
5	chr11:65428991..65430722-chr11:65553054..65555889,2	MCF-7	breast:
6	chr11:65553824..65556845-chr11:65623477..65626342,3	K562	blood:
7	chr11:65479523..65484500-chr11:65551483..65556601,5	MCF-7	breast:
8	chr11:65552272..65555849-chr11:65684886..65688039,3	MCF-7	breast:
9	chr11:65552282..65556398-chr11:65623209..65626538,5	MCF-7	breast:
10	chr11:65551697..65554555-chr11:65655334..65658299,2	K562	blood:

Variant related genes	Relation type
OVOL1	TF binding region
ENSG00000175602	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000173465	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000176973	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000175550	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
2	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
3	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
4	nsv897758	chr11:65490756-65564035	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv897759	chr11:65543827-65554502	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
6	nsv897760	chr11:65545306-65559266	Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv3321581	chr11:65552901-65555749	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65549200-65554200	Weak transcription	Right Atrium	heart
2	chr11:65551200-65555600	Bivalent Enhancer	Fetal Thymus	thymus
3	chr11:65552800-65554600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
4	chr11:65553000-65554200	Bivalent Enhancer	GM12878-XiMat	blood
5	chr11:65553200-65554200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
6	chr11:65553400-65554600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:65553400-65554600	Enhancers	Gastric	stomach
8	chr11:65553400-65555200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr11:65553400-65555800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr11:65553400-65556400	Bivalent Enhancer	Spleen	Spleen
11	chr11:65553400-65557200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
12	chr11:65553600-65554200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
13	chr11:65553600-65554200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
14	chr11:65553600-65554200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
15	chr11:65553600-65554200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:65553600-65554200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
17	chr11:65553600-65554200	Enhancers	Ovary	ovary
18	chr11:65553600-65554200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
19	chr11:65553600-65554200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
20	chr11:65553600-65554400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:65553600-65554400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:65553600-65554600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr11:65553600-65554600	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr11:65553600-65554600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
25	chr11:65553600-65555000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
26	chr11:65553600-65555600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr11:65553600-65556000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr11:65553600-65556000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr11:65553600-65556000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr11:65553600-65556000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr11:65553600-65556000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
32	chr11:65553800-65554200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:65553800-65554200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr11:65553800-65554200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
35	chr11:65553800-65554200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:65553800-65554200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:65553800-65554200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:65553800-65554200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:65553800-65554200	Bivalent Enhancer	Liver	Liver
40	chr11:65553800-65554200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
41	chr11:65553800-65554200	Bivalent Enhancer	Fetal Heart	heart
42	chr11:65553800-65554200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
43	chr11:65553800-65554200	Flanking Active TSS	Right Ventricle	heart
44	chr11:65553800-65554200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
45	chr11:65553800-65554400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
46	chr11:65553800-65554600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
47	chr11:65553800-65554600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:65553800-65554600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr11:65553800-65554600	Active TSS	Esophagus	oesophagus
50	chr11:65553800-65554600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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