Variant report

Variant	rs558883383
Chromosome Location	chr11:66789759-66789760
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	EGR1	chr11:66789553-66790728	MCF-7	breast:	n/a	chr11:66789803-66789816
2	YY1	chr11:66789738-66789996	HCT-116	colon:	n/a	chr11:66789936-66789950
3	STAT1	chr11:66789653-66790281	Hela-S3	cervix:	n/a	chr11:66789799-66789811 chr11:66789902-66789914 chr11:66789971-66789980 chr11:66789744-66789752 chr11:66789970-66789979 chr11:66789969-66789980 chr11:66789971-66789979 chr11:66789965-66789985
4	ELF1	chr11:66789598-66790394	MCF-7	breast:	n/a	n/a
5	EGR1	chr11:66789752-66790240	ECC-1	luminal epithelium:	n/a	chr11:66789803-66789816
6	TCF12	chr11:66789133-66790361	ECC-1	luminal epithelium:	n/a	chr11:66789837-66789844 chr11:66789231-66789238 chr11:66789853-66789863
7	CBX3	chr11:66789208-66789821	K562	blood:	n/a	n/a
8	MAX	chr11:66789735-66791655	A549	lung:	n/a	chr11:66790997-66791007
9	EGR1	chr11:66789533-66790430	MCF-7	breast:	n/a	chr11:66789803-66789816
10	RCOR1	chr11:66789520-66790678	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:66789665-66790010	MCF-7	breast:	n/a	n/a
12	CTCF	chr11:66789620-66789770	GM12874	blood:	n/a	n/a
13	SMC3	chr11:66789758-66790600	Hela-S3	cervix:	n/a	n/a
14	MAX	chr11:66789743-66790471	ECC-1	luminal epithelium:	n/a	n/a
15	MYC	chr11:66789743-66790438	MCF10A-Er-Src	breast:	n/a	n/a
16	NFIC	chr11:66789630-66790665	ECC-1	luminal epithelium:	n/a	n/a
17	CTCF	chr11:66789620-66789770	HCM	heart:	n/a	n/a
18	MAX	chr11:66789704-66791377	Hela-S3	cervix:	n/a	chr11:66790997-66791007
19	ZBTB7A	chr11:66789748-66791271	ECC-1	luminal epithelium:	n/a	n/a
20	RAD21	chr11:66788989-66790406	HCT-116	colon:	n/a	chr11:66789709-66789722
21	HDAC2	chr11:66789634-66790787	MCF-7	breast:	n/a	n/a
22	TCF12	chr11:66789623-66790698	A549	lung:	n/a	chr11:66789837-66789844 chr11:66789853-66789863
23	CTCF	chr11:66789620-66789770	GM06990	blood:	n/a	n/a
24	EGR1	chr11:66789443-66790631	HCT-116	colon:	n/a	chr11:66789803-66789816
25	NFIC	chr11:66789716-66790489	SK-N-SH	brain:	n/a	n/a
26	MYC	chr11:66789723-66790049	MCF-7	breast:	n/a	n/a
27	MYC	chr11:66789701-66790584	Hela-S3	cervix:	n/a	n/a
28	NR2F2	chr11:66789574-66790726	MCF-7	breast:	n/a	n/a
29	GATA3	chr11:66789557-66790507	MCF-7	breast:	n/a	n/a
30	SIN3AK20	chr11:66789540-66791922	MCF-7	breast:	n/a	n/a
31	SP1	chr11:66789584-66790714	HCT-116	colon:	n/a	chr11:66789801-66789815 chr11:66789795-66789809 chr11:66789901-66789910
32	TFAP2A	chr11:66789749-66790915	Hela-S3	cervix:	n/a	chr11:66790835-66790847 chr11:66790565-66790580 chr11:66790533-66790545
33	FOXM1	chr11:66789565-66790344	MCF-7	breast:	n/a	n/a
34	NFIC	chr11:66789703-66790307	SK-N-SH	brain:	n/a	n/a
35	ELF1	chr11:66789536-66790350	MCF-7	breast:	n/a	n/a
36	GABPA	chr11:66789736-66790555	MCF-7	breast:	n/a	chr11:66789945-66789954
37	POLR2A	chr11:66789515-66790202	HCT-116	colon:	n/a	n/a
38	NFIC	chr11:66789605-66790379	ECC-1	luminal epithelium:	n/a	n/a
39	EP300	chr11:66789633-66790413	MCF-7	breast:	n/a	n/a
40	EP300	chr11:66789680-66790330	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr11:66789750-66790723	HCT-116	colon:	n/a	n/a
42	EP300	chr11:66789754-66790204	SK-N-SH_RA	brain:	n/a	n/a
43	MAZ	chr11:66789711-66790648	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr11:66789620-66789770	GM12866	blood:	n/a	n/a
45	FOSL2	chr11:66789724-66790414	MCF-7	breast:	n/a	n/a
46	NR2F2	chr11:66789635-66790619	MCF-7	breast:	n/a	n/a
47	MAX	chr11:66789617-66790391	MCF-7	breast:	n/a	n/a
48	POLR2A	chr11:66789717-66791255	Hela-S3	cervix:	n/a	n/a
49	SMARCC1	chr11:66789692-66790430	Hela-S3	cervix:	n/a	n/a
50	MAX	chr11:66789550-66791507	MCF-7	breast:	n/a	chr11:66790997-66791007

No.	Distal block	Cell Line	Cell type
1	chr11:66461932..66462758-chr11:66789180..66789779,2	MCF-7	breast:
2	chr11:66786143..66803039-chr11:66815769..66832347,160	MCF-7	breast:
3	chr11:66789062..66792605-chr11:66793092..66798254,6	K562	blood:
4	chr11:66762967..66768319-chr11:66788576..66792799,9	MCF-7	breast:
5	chr11:66762811..66772502-chr11:66787021..66797000,34	MCF-7	breast:
6	chr11:66788543..66790931-chr11:67139607..67141552,2	MCF-7	breast:
7	chr11:66786222..66802522-chr11:66819452..66831805,83	MCF-7	breast:
8	chr11:66608006..66612050-chr11:66789663..66791972,5	MCF-7	breast:
9	chr11:66772630..66777861-chr11:66788171..66792271,6	MCF-7	breast:
10	chr11:66789739..66792605-chr11:66795396..66798254,2	K562	blood:

Variant related genes	Relation type
SYT12	TF binding region
ENSG00000173227	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000173653	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000252709	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	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv832194	chr11:66634462-66805980	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
4	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
5	esv1817552	chr11:66751014-66839985	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
6	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	esv3405747	chr11:66789601-66792149	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66778200-66789800	Weak transcription	Right Atrium	heart
2	chr11:66788600-66789800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:66788600-66790000	Enhancers	GM12878-XiMat	blood
4	chr11:66789200-66790000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr11:66789200-66791200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr11:66789400-66789800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:66789400-66789800	Enhancers	Placenta	Placenta
8	chr11:66789400-66790000	Enhancers	Brain Cingulate Gyrus	brain
9	chr11:66789600-66789800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr11:66789600-66789800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:66789600-66789800	Bivalent Enhancer	Brain Hippocampus Middle	brain
12	chr11:66789600-66789800	Bivalent Enhancer	Spleen	Spleen
13	chr11:66789600-66789800	Enhancers	A549	lung
14	chr11:66789600-66789800	Flanking Bivalent TSS/Enh	HepG2	liver
15	chr11:66789600-66789800	Enhancers	NH-A	brain
16	chr11:66789600-66790000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:66789600-66790000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:66789600-66790000	Enhancers	Brain Angular Gyrus	brain
19	chr11:66789600-66790000	Enhancers	Brain Anterior Caudate	brain
20	chr11:66789600-66790000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:66789600-66790000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
22	chr11:66789600-66790000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
23	chr11:66789600-66790000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr11:66789600-66790000	Enhancers	Right Ventricle	heart
25	chr11:66789600-66790000	Enhancers	Osteobl	bone
26	chr11:66789600-66790200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:66789600-66790200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:66789600-66790200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:66789600-66790200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:66789600-66790200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:66789600-66790200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:66789600-66790200	Enhancers	Liver	Liver
33	chr11:66789600-66790200	Bivalent Enhancer	Colonic Mucosa	Colon
34	chr11:66789600-66790200	Bivalent Enhancer	Fetal Brain Male	brain
35	chr11:66789600-66790200	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr11:66789600-66790200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
37	chr11:66789600-66790200	Enhancers	HMEC	breast
38	chr11:66789600-66790200	Enhancers	HSMM	muscle
39	chr11:66789600-66790200	Enhancers	HSMMtube	muscle
40	chr11:66789600-66790200	Bivalent Enhancer	NHDF-Ad	bronchial
41	chr11:66789600-66790200	Flanking Active TSS	NHEK	skin
42	chr11:66789600-66790400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:66789600-66790400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:66789600-66790400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
45	chr11:66789600-66790400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
46	chr11:66789600-66790400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:66789600-66790400	Enhancers	Esophagus	oesophagus
48	chr11:66789600-66790400	Bivalent Enhancer	Fetal Stomach	stomach
49	chr11:66789600-66790400	Bivalent Enhancer	Fetal Thymus	thymus
50	chr11:66789600-66790400	Enhancers	Left Ventricle	heart

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