Variant report

Variant	rs144491491
Chromosome Location	chr11:63582212-63582213
allele	-/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	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	GTF2F1	chr11:63582205-63582269	H1-hESC	embryonic stem cell:	n/a	n/a
8	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
9	PML	chr11:63580594-63582222	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:63580582-63582312	H1-hESC	embryonic stem cell:	n/a	n/a
11	MXI1	chr11:63579850-63582705	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr11:63581734-63582759	GM12878	blood:	n/a	n/a
13	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
14	POLR2A	chr11:63582105-63582716	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:63580538-63582415	GM12891	blood:	n/a	n/a
16	POLR2A	chr11:63581212-63582575	PFSK-1	brain:	n/a	n/a
17	MTA3	chr11:63581635-63582310	GM12878	blood:	n/a	n/a
18	MXI1	chr11:63579952-63582400	IMR90	lung:	n/a	n/a
19	SIN3A	chr11:63580410-63582441	H1-hESC	embryonic stem cell:	n/a	chr11:63581580-63581593 chr11:63581096-63581107
20	POLR2A	chr11:63581587-63582621	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:63581757-63582335	GM12892	blood:	n/a	n/a
22	POLR2A	chr11:63580416-63582266	GM12892	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	chr11:63582150..63582705-chr11:63604619..63605149,2	MCF-7	breast:
12	chr11:63532131..63538052-chr11:63579345..63585604,10	K562	blood:
13	chr11:63580176..63582428-chr11:63682563..63684680,2	K562	blood:
14	chr11:63437085..63438927-chr11:63580871..63582709,2	MCF-7	breast:
15	chr11:63532069..63539323-chr11:63579489..63583130,14	MCF-7	breast:
16	chr11:63579430..63582335-chr11:63993670..63995611,2	K562	blood:
17	chr11:63535333..63536207-chr11:63581006..63582322,3	MCF-7	breast:
18	chr11:63579552..63583589-chr11:63604564..63608557,6	K562	blood:
19	chr11:63580299..63582440-chr11:63655697..63658299,3	K562	blood:

Variant related genes	Relation type
C11orf84	TF binding region
ENSG00000167771	Chromatin interaction
ENSG00000133318	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000149761	Chromatin interaction
ENSG00000149743	Chromatin interaction
ENSG00000188070	Chromatin interaction
ENSG00000168005	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000255651	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	chr11:63579800-63582600	Active TSS	H9 Cell Line	embryonic stem cell
2	chr11:63580200-63582600	Active TSS	Right Atrium	heart
3	chr11:63580400-63582400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:63580400-63582800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:63580600-63582400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr11:63580600-63582400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:63580600-63582400	Active TSS	GM12878-XiMat	blood
8	chr11:63580600-63582600	Active TSS	HSMMtube	muscle
9	chr11:63581200-63582400	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr11:63581200-63582400	Flanking Active TSS	Placenta	Placenta
11	chr11:63581200-63583200	Transcr. at gene 5' and 3'	Dnd41	blood
12	chr11:63581400-63582600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:63581600-63582400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr11:63581600-63582400	Flanking Active TSS	K562	blood
15	chr11:63581600-63582600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr11:63581600-63582600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr11:63581600-63582600	Enhancers	Stomach Mucosa	stomach
18	chr11:63581800-63582400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr11:63581800-63582400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr11:63581800-63582400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr11:63581800-63582400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:63581800-63582400	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr11:63581800-63582400	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr11:63581800-63582400	Flanking Active TSS	Fetal Brain Male	brain
25	chr11:63581800-63582400	Enhancers	Small Intestine	intestine
26	chr11:63581800-63582400	Flanking Active TSS	NHEK	skin
27	chr11:63581800-63582600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr11:63581800-63582600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:63581800-63582600	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr11:63581800-63582600	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr11:63581800-63582600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr11:63581800-63582600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr11:63581800-63582600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr11:63581800-63582600	Flanking Active TSS	Fetal Intestine Small	intestine
35	chr11:63581800-63582600	Flanking Active TSS	Fetal Lung	lung
36	chr11:63581800-63582600	Flanking Active TSS	NH-A	brain
37	chr11:63581800-63582800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:63581800-63582800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:63581800-63582800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:63581800-63582800	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr11:63581800-63583000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:63581800-63583000	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr11:63581800-63583000	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr11:63581800-63583000	Flanking Active TSS	HUVEC	blood vessel
45	chr11:63581800-63583200	Flanking Active TSS	Fetal Brain Female	brain
46	chr11:63581800-63583600	Enhancers	Spleen	Spleen
47	chr11:63582000-63582400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr11:63582000-63582400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:63582000-63582400	Enhancers	Primary B cells from peripheral blood	blood
50	chr11:63582000-63582400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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