Variant report

Variant	rs565872507
Chromosome Location	chr11:65553810-65553811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

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	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
4	MAX	chr11:65553767-65555136	ECC-1	luminal epithelium:	n/a	chr11:65554464-65554474 chr11:65554157-65554167
5	BACH1	chr11:65553697-65554118	H1-hESC	embryonic stem cell:	n/a	n/a
6	SIN3AK20	chr11:65553765-65556882	MCF-7	breast:	n/a	n/a
7	MAX	chr11:65553720-65554983	MCF-7	breast:	n/a	chr11:65554464-65554474 chr11:65554157-65554167
8	HA-E2F1	chr11:65553705-65554275	MCF-7	breast:	n/a	chr11:65553982-65553991 chr11:65554032-65554044 chr11:65553984-65553994
9	GATA3	chr11:65553720-65554930	MCF-7	breast:	n/a	chr11:65553964-65553972
10	SIN3AK20	chr11:65553762-65554973	MCF-7	breast:	n/a	n/a
11	E2F6	chr11:65553549-65554277	H1-hESC	embryonic stem cell:	n/a	chr11:65553982-65553991 chr11:65554032-65554044 chr11:65553984-65553994
12	NR2F2	chr11:65553808-65554765	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65553761-65553811	HRCEpiC	kidney:	n/a
2	chr11:65553761-65553811	GM12878	blood:	n/a
3	chr11:65553761-65553811	HNPCEpiC	eye:	n/a
4	chr11:65553761-65553811	PFSK-1	brain:	n/a
5	chr11:65553761-65553811	HPAEpiC	pulmonary alveolar:	n/a
6	chr11:65553761-65553811	HCF	heart:	n/a
7	chr11:65553761-65553811	HRE	kidney:	n/a
8	chr11:65553761-65553811	SK-N-SH_RA	brain:	n/a
9	chr11:65553761-65553811	MCF-7	breast:	n/a
10	chr11:65553761-65553811	T-47D	breast:	n/a
11	chr11:65553761-65553811	K562	blood:	n/a
12	chr11:65553761-65553811	RPTEC	kidney:	n/a
13	chr11:65553761-65553811	SAEC	small airway:	n/a
14	chr11:65553761-65553811	NB4	blood:	n/a
15	chr11:65553761-65553811	AG09309	skin:	n/a
16	chr11:65553761-65553811	U87	brain:	n/a
17	chr11:65553761-65553811	GM12891	blood:	n/a
18	chr11:65553761-65553811	NH-A	brain:	n/a
19	chr11:65553761-65553811	Jurkat	blood:	n/a
20	chr11:65553761-65553811	HCPEpiC	choroid plexus:	n/a
21	chr11:65553761-65553811	HRPEpiC	eye:	n/a
22	chr11:65553761-65553811	GM19239	blood:	n/a
23	chr11:65553761-65553811	SKMC	muscle:	n/a
24	chr11:65553761-65553811	HUVEC	blood vessel:	n/a
25	chr11:65553761-65553811	HL-60	blood:	n/a
26	chr11:65553761-65553811	SK-N-MC	brain:	n/a
27	chr11:65553761-65553811	H1-hESC	embryonic stem cell:	embryo
28	chr11:65553761-65553811	GM06990	blood:	n/a
29	chr11:65553761-65553811	AG09319	gingival:	n/a
30	chr11:65553761-65553811	IMR90	lung:	fetal
31	chr11:65553761-65553811	PrEC	prostate:	n/a
32	chr11:65553761-65553811	ECC-1	luminal epithelium:	n/a
33	chr11:65553761-65553811	AG04449	skin:	fetal
34	chr11:65553761-65553811	AG04450	lung:	fetal
35	chr11:65553761-65553811	Hepatocyte	liver:	n/a
36	chr11:65553761-65553811	SK-N-SH	brain:	n/a
37	chr11:65553761-65553811	NT2-D1	testis:	n/a
38	chr11:65553761-65553811	HMEC	breast:	n/a
39	chr11:65553761-65553811	HepG2	liver:	n/a
40	chr11:65553761-65553811	ovcar-3	ovarian:	n/a
41	chr11:65553761-65553811	Caco-2	colon:	n/a
42	chr11:65553761-65553811	AoSMC	blood vessel:	n/a
43	chr11:65553761-65553811	AG10803	skin:	n/a
44	chr11:65553761-65553811	NHBE	bronchial:	n/a
45	chr11:65553761-65553811	HIPEpiC	eye:	n/a
46	chr11:65553761-65553811	HEEpiC	esophagus:	n/a
47	chr11:65553761-65553811	ProgFib	skin:	n/a
48	chr11:65553761-65553811	PANC-1	pancreas:	n/a
49	chr11:65553761-65553811	HCT-116	colon:	n/a
50	chr11:65553761-65553811	A549	lung:	n/a

(count:10 , 50 per page) page: 1

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	chr11:65479523..65484500-chr11:65551483..65556601,5	MCF-7	breast:
7	chr11:65381741..65384368-chr11:65551453..65554074,4	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:

No data

Variant related genes	Relation type
OVOL1	TF binding region
OVOL1	CpG island
ENSG00000173465	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000176973	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000173039	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:86 , 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	chr11:65552600-65554000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr11:65552800-65554000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
5	chr11:65552800-65554000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr11:65552800-65554600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
7	chr11:65553000-65554200	Bivalent Enhancer	GM12878-XiMat	blood
8	chr11:65553200-65554200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
9	chr11:65553400-65554000	Enhancers	Pancreas	Pancrea
10	chr11:65553400-65554600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:65553400-65554600	Enhancers	Gastric	stomach
12	chr11:65553400-65555200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr11:65553400-65555800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr11:65553400-65556400	Bivalent Enhancer	Spleen	Spleen
15	chr11:65553400-65557200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
16	chr11:65553600-65554000	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr11:65553600-65554000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:65553600-65554000	Bivalent Enhancer	Adipose Nuclei	Adipose
19	chr11:65553600-65554000	Enhancers	Duodenum Mucosa	Duodenum
20	chr11:65553600-65554000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
21	chr11:65553600-65554000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
22	chr11:65553600-65554000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
23	chr11:65553600-65554000	Bivalent Enhancer	Fetal Lung	lung
24	chr11:65553600-65554000	Flanking Bivalent TSS/Enh	Placenta	Placenta
25	chr11:65553600-65554000	Bivalent Enhancer	Psoas Muscle	Psoas
26	chr11:65553600-65554000	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr11:65553600-65554000	Bivalent Enhancer	Thymus	Thymus
28	chr11:65553600-65554200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
29	chr11:65553600-65554200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
30	chr11:65553600-65554200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
31	chr11:65553600-65554200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:65553600-65554200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
33	chr11:65553600-65554200	Enhancers	Ovary	ovary
34	chr11:65553600-65554200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
35	chr11:65553600-65554200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
36	chr11:65553600-65554400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:65553600-65554400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:65553600-65554600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr11:65553600-65554600	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr11:65553600-65554600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
41	chr11:65553600-65555000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
42	chr11:65553600-65555600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr11:65553600-65556000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr11:65553600-65556000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr11:65553600-65556000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
46	chr11:65553600-65556000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
47	chr11:65553600-65556000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
48	chr11:65553800-65554000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:65553800-65554000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:65553800-65554000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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