Variant report

Variant	rs544776451
Chromosome Location	chr11:66233755-66233756
allele	A/G
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	POLR2A	chr11:66233702-66234536	HL-60	blood:	n/a	n/a
2	POLR2A	chr11:66233717-66233969	H1-hESC	embryonic stem cell:	n/a	n/a
3	SP1	chr11:66233419-66234457	H1-hESC	embryonic stem cell:	n/a	chr11:66234084-66234094 chr11:66234217-66234229 chr11:66234306-66234315 chr11:66234322-66234336 chr11:66234217-66234229 chr11:66234326-66234335 chr11:66234219-66234228 chr11:66234327-66234336 chr11:66234292-66234301 chr11:66234307-66234316 chr11:66234356-66234365 chr11:66234293-66234302 chr11:66234083-66234095 chr11:66234305-66234317 chr11:66234307-66234316 chr11:66234293-66234302 chr11:66234325-66234337 chr11:66234349-66234363 chr11:66234214-66234228 chr11:66234084-66234093 chr11:66234009-66234018 chr11:66234305-66234317 chr11:66234083-66234095 chr11:66234306-66234316 chr11:66234325-66234337 chr11:66233916-66233927
4	SP4	chr11:66233469-66234510	H1-hESC	embryonic stem cell:	n/a	chr11:66234323-66234339 chr11:66234321-66234337 chr11:66234195-66234211 chr11:66234303-66234319 chr11:66233916-66233927
5	MAX	chr11:66233670-66234403	NB4	blood:	n/a	n/a
6	POLR2A	chr11:66233551-66234324	H1-hESC	embryonic stem cell:	n/a	n/a
7	RUNX3	chr11:66233676-66234315	GM12878	blood:	n/a	n/a
8	ZBTB7A	chr11:66233599-66234227	K562	blood:	n/a	chr11:66233679-66233686 chr11:66234217-66234224
9	TAF1	chr11:66233681-66234588	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr11:66233733-66234503	SK-N-MC	brain:	n/a	n/a
11	CREB1	chr11:66233688-66235152	HepG2	liver:	n/a	n/a
12	ZBTB7A	chr11:66233722-66234917	K562	blood:	n/a	chr11:66234217-66234224
13	MYC	chr11:66233476-66234763	NB4	blood:	n/a	n/a
14	TAF1	chr11:66233741-66233952	H1-hESC	embryonic stem cell:	n/a	n/a
15	MXI1	chr11:66233664-66235100	IMR90	lung:	n/a	n/a
16	MAZ	chr11:66233699-66234905	GM12878	blood:	n/a	n/a
17	SIN3AK20	chr11:66233601-66234207	H1-hESC	embryonic stem cell:	n/a	n/a
18	ZBTB7A	chr11:66233623-66234926	ECC-1	luminal epithelium:	n/a	chr11:66233679-66233686 chr11:66234217-66234224
19	MAZ	chr11:66233486-66235242	IMR90	lung:	n/a	n/a
20	ZBTB7A	chr11:66233551-66234330	ECC-1	luminal epithelium:	n/a	chr11:66233679-66233686 chr11:66234217-66234224
21	REST	chr11:66233615-66235434	H1-neurons	neurons:	n/a	chr11:66234642-66234655 chr11:66234284-66234297 chr11:66234281-66234301 chr11:66233925-66233938 chr11:66235090-66235099
22	JUND	chr11:66233630-66234140	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr11:66233747-66234256	SK-N-MC	brain:	n/a	n/a
24	CREB1	chr11:66233596-66234830	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr11:66233713-66234037	H1-hESC	embryonic stem cell:	n/a	n/a
26	STAT1	chr11:66233588-66234442	GM12878	blood:	n/a	n/a
27	ELF1	chr11:66233748-66234511	GM12878	blood:	n/a	n/a
28	SIN3A	chr11:66233468-66235321	H1-hESC	embryonic stem cell:	n/a	chr11:66234618-66234629 chr11:66235095-66235106 chr11:66234281-66234294
29	SP1	chr11:66233744-66234265	A549	lung:	n/a	chr11:66234084-66234094 chr11:66234217-66234229 chr11:66234217-66234229 chr11:66234219-66234228 chr11:66234083-66234095 chr11:66234214-66234228 chr11:66234084-66234093 chr11:66234009-66234018 chr11:66234083-66234095 chr11:66233916-66233927

No.	Distal block	Cell Line	Cell type
1	chr11:66204408..66207592-chr11:66232898..66234568,4	MCF-7	breast:
2	chr11:66056443..66058001-chr11:66233294..66235684,2	MCF-7	breast:
3	chr11:66137724..66140546-chr11:66233440..66235364,2	MCF-7	breast:
4	chr11:66205149..66207043-chr11:66233643..66235724,3	MCF-7	breast:
5	chr11:66232704..66235668-chr11:66609805..66612233,2	MCF-7	breast:
6	chr11:66204104..66208501-chr11:66232741..66235835,4	K562	blood:
7	chr11:66112568..66115991-chr11:66232682..66235735,3	K562	blood:
8	chr11:66139196..66140787-chr11:66233339..66235193,2	MCF-7	breast:
9	chr11:66204033..66208144-chr11:66232603..66235665,3	K562	blood:
10	chr11:66115381..66116970-chr11:66233175..66235277,2	MCF-7	breast:
11	chr11:66233713..66235864-chr11:66383889..66386308,2	MCF-7	breast:
12	chr11:64543824..64546166-chr11:66233104..66235592,3	MCF-7	breast:

Variant related genes	Relation type
PELI3	TF binding region
ENSG00000168066	Chromatin interaction
ENSG00000173653	Chromatin interaction
ENSG00000174684	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000255468	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000174547	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000239306	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	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
3	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	nsv897786	chr11:66203025-66244015	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	esv3332492	chr11:66233476-66235774	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66219800-66233800	Weak transcription	Aorta	Aorta
2	chr11:66232400-66233800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:66232400-66233800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:66232400-66234000	Enhancers	HSMMtube	muscle
5	chr11:66232800-66233800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr11:66233000-66233800	Enhancers	Spleen	Spleen
7	chr11:66233000-66234000	Flanking Active TSS	GM12878-XiMat	blood
8	chr11:66233000-66235000	Enhancers	Fetal Brain Male	brain
9	chr11:66233200-66233800	Weak transcription	Right Ventricle	heart
10	chr11:66233200-66234000	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr11:66233200-66234800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:66233200-66235000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr11:66233200-66235000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr11:66233200-66235200	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr11:66233200-66235200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:66233400-66233800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:66233400-66233800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr11:66233400-66233800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr11:66233400-66233800	Enhancers	Stomach Mucosa	stomach
20	chr11:66233400-66233800	Flanking Bivalent TSS/Enh	HepG2	liver
21	chr11:66233400-66233800	Enhancers	HUVEC	blood vessel
22	chr11:66233400-66233800	Enhancers	K562	blood
23	chr11:66233400-66234000	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr11:66233400-66234000	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr11:66233400-66234000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr11:66233400-66234000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:66233400-66234000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:66233400-66234000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:66233400-66234000	Active TSS	Fetal Lung	lung
30	chr11:66233400-66234000	Flanking Active TSS	Hela-S3	cervix
31	chr11:66233400-66234200	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr11:66233400-66234200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:66233400-66234200	Flanking Active TSS	Fetal Thymus	thymus
34	chr11:66233400-66234200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr11:66233400-66234800	Active TSS	Brain Anterior Caudate	brain
36	chr11:66233400-66234800	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr11:66233400-66235000	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr11:66233400-66235000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:66233400-66235000	Active TSS	Primary T cells from cord blood	blood
40	chr11:66233400-66235000	Active TSS	Fetal Kidney	kidney
41	chr11:66233400-66235200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:66233600-66233800	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
43	chr11:66233600-66233800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:66233600-66233800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:66233600-66233800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:66233600-66233800	Enhancers	Liver	Liver
47	chr11:66233600-66233800	Active TSS	Brain Germinal Matrix	brain
48	chr11:66233600-66233800	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr11:66233600-66233800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr11:66233600-66233800	Flanking Active TSS	Fetal Brain Female	brain

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