Variant report

Variant	rs567368217
Chromosome Location	chr11:63582131-63582132
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	REST	chr11:63580337-63582275	H1-neurons	neurons:	n/a	chr11:63581580-63581593 chr11:63581442-63581455 chr11:63581574-63581587 chr11:63581319-63581332
2	POLR2A	chr11:63580310-63582417	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr11:63580574-63582320	GM12878	blood:	n/a	n/a
4	POU2F2	chr11:63581827-63582256	GM12891	blood:	n/a	chr11:63582059-63582072 chr11:63582061-63582071 chr11:63582046-63582060 chr11:63582055-63582068 chr11:63582055-63582068 chr11:63582043-63582065 chr11:63582046-63582059 chr11:63582061-63582071 chr11:63582056-63582074 chr11:63582062-63582069 chr11:63582048-63582070 chr11:63582056-63582070 chr11:63582046-63582061 chr11:63582055-63582068 chr11:63582061-63582070 chr11:63582054-63582076
5	POLR2A	chr11:63582056-63582250	MCF10A-Er-Src	breast:	n/a	n/a
6	MAZ	chr11:63580254-63582692	IMR90	lung:	n/a	chr11:63580766-63580776 chr11:63581079-63581089 chr11:63580907-63580917 chr11:63581504-63581514
7	CHD1	chr11:63581653-63582154	H1-hESC	embryonic stem cell:	n/a	n/a
8	MXI1	chr11:63581464-63582203	GM12878	blood:	n/a	n/a
9	POU2F2	chr11:63581777-63582231	GM12878	blood:	n/a	chr11:63582059-63582072 chr11:63582061-63582071 chr11:63582046-63582060 chr11:63582055-63582068 chr11:63582055-63582068 chr11:63582043-63582065 chr11:63582046-63582059 chr11:63582061-63582071 chr11:63582056-63582074 chr11:63582062-63582069 chr11:63582048-63582070 chr11:63582056-63582070 chr11:63582046-63582061 chr11:63582055-63582068 chr11:63582061-63582070 chr11:63582054-63582076
10	RELA	chr11:63580436-63582154	GM12891	blood:	n/a	chr11:63580664-63580673 chr11:63580664-63580673
11	PML	chr11:63580594-63582222	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:63581401-63582142	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:63580582-63582312	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr11:63581797-63582147	GM12878	blood:	n/a	chr11:63582029-63582037 chr11:63581967-63581978
15	MAZ	chr11:63581259-63582156	GM12878	blood:	n/a	chr11:63581504-63581514
16	MXI1	chr11:63579850-63582705	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr11:63581734-63582759	GM12878	blood:	n/a	n/a
18	POU2F2	chr11:63581816-63582217	GM12878	blood:	n/a	chr11:63582059-63582072 chr11:63582061-63582071 chr11:63582046-63582060 chr11:63582055-63582068 chr11:63582055-63582068 chr11:63582043-63582065 chr11:63582046-63582059 chr11:63582061-63582071 chr11:63582056-63582074 chr11:63582062-63582069 chr11:63582048-63582070 chr11:63582056-63582070 chr11:63582046-63582061 chr11:63582055-63582068 chr11:63582061-63582070 chr11:63582054-63582076
19	POLR2A	chr11:63582105-63582716	HepG2	liver:	n/a	n/a
20	POLR2A	chr11:63580538-63582415	GM12891	blood:	n/a	n/a
21	POLR2A	chr11:63581212-63582575	PFSK-1	brain:	n/a	n/a
22	MTA3	chr11:63581635-63582310	GM12878	blood:	n/a	n/a
23	MXI1	chr11:63579952-63582400	IMR90	lung:	n/a	n/a
24	SIN3A	chr11:63580410-63582441	H1-hESC	embryonic stem cell:	n/a	chr11:63581580-63581593 chr11:63581096-63581107
25	POLR2A	chr11:63581587-63582621	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:63581757-63582335	GM12892	blood:	n/a	n/a
27	POLR2A	chr11:63580416-63582266	GM12892	blood:	n/a	n/a
28	WRNIP1	chr11:63581760-63582177	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63579552..63584409-chr11:63604789..63609677,6	K562	blood:
2	chr11:63579193..63582428-chr11:63682051..63685961,4	K562	blood:
3	chr11:63532131..63535124-chr11:63579146..63582872,4	K562	blood:
4	chr11:63570205..63572019-chr11:63580900..63582897,2	MCF-7	breast:
5	chr11:63581119..63583081-chr11:63638472..63640533,2	K562	blood:
6	chr11:63581060..63583015-chr11:63654229..63655873,2	MCF-7	breast:
7	chr11:63577221..63582686-chr11:63583021..63587487,9	MCF-7	breast:
8	chr11:63448971..63451551-chr11:63580454..63582597,3	K562	blood:
9	chr11:63533773..63537846-chr11:63579275..63583196,6	MCF-7	breast:
10	chr11:63581485..63582340-chr5:43483433..43484029,2	Hela-S3	cervix:
11	chr11:63532131..63538052-chr11:63579345..63585604,10	K562	blood:
12	chr11:63580176..63582428-chr11:63682563..63684680,2	K562	blood:
13	chr11:63437085..63438927-chr11:63580871..63582709,2	MCF-7	breast:
14	chr11:63532069..63539323-chr11:63579489..63583130,14	MCF-7	breast:
15	chr11:63579430..63582335-chr11:63993670..63995611,2	K562	blood:
16	chr11:63535333..63536207-chr11:63581006..63582322,3	MCF-7	breast:
17	chr11:63579552..63583589-chr11:63604564..63608557,6	K562	blood:
18	chr11:63580299..63582440-chr11:63655697..63658299,3	K562	blood:

Variant related genes	Relation type
C11orf84	TF binding region
ENSG00000151881	Chromatin interaction
ENSG00000188070	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000149761	Chromatin interaction
ENSG00000168005	Chromatin interaction
ENSG00000133318	Chromatin interaction
ENSG00000255651	Chromatin interaction
ENSG00000149743	Chromatin interaction
ENSG00000167771	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv3413647	chr11:63550425-63582789	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv33730	chr11:63581200-63586085	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63579400-63582200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr11:63579800-63582600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:63580000-63582200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:63580200-63582200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:63580200-63582200	Active TSS	HepG2	liver
6	chr11:63580200-63582600	Active TSS	Right Atrium	heart
7	chr11:63580400-63582200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:63580400-63582200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:63580400-63582200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:63580400-63582200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:63580400-63582200	Active TSS	Lung	lung
12	chr11:63580400-63582200	Active TSS	A549	lung
13	chr11:63580400-63582200	Active TSS	NHDF-Ad	bronchial
14	chr11:63580400-63582400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:63580400-63582800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:63580600-63582200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr11:63580600-63582200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:63580600-63582200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr11:63580600-63582200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr11:63580600-63582200	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr11:63580600-63582200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:63580600-63582200	Active TSS	HSMM	muscle
23	chr11:63580600-63582400	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr11:63580600-63582400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:63580600-63582400	Active TSS	GM12878-XiMat	blood
26	chr11:63580600-63582600	Active TSS	HSMMtube	muscle
27	chr11:63580800-63582200	Active TSS	Muscle Satellite Cultured Cells	--
28	chr11:63580800-63582200	Active TSS	Fetal Muscle Trunk	muscle
29	chr11:63580800-63582200	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr11:63581200-63582200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:63581200-63582200	Flanking Active TSS	Colonic Mucosa	Colon
32	chr11:63581200-63582200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr11:63581200-63582400	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr11:63581200-63582400	Flanking Active TSS	Placenta	Placenta
35	chr11:63581200-63583200	Transcr. at gene 5' and 3'	Dnd41	blood
36	chr11:63581400-63582600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:63581600-63582200	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr11:63581600-63582200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:63581600-63582200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr11:63581600-63582200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:63581600-63582200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr11:63581600-63582200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:63581600-63582200	Flanking Active TSS	Fetal Thymus	thymus
44	chr11:63581600-63582200	Flanking Active TSS	Right Ventricle	heart
45	chr11:63581600-63582200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr11:63581600-63582200	Flanking Active TSS	Thymus	Thymus
47	chr11:63581600-63582400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr11:63581600-63582400	Flanking Active TSS	K562	blood
49	chr11:63581600-63582600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr11:63581600-63582600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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