Variant report

Variant	rs554653218
Chromosome Location	chr11:63582449-63582450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr11:63580254-63582692	IMR90	lung:	n/a	chr11:63580766-63580776 chr11:63581079-63581089 chr11:63580907-63580917 chr11:63581504-63581514
2	STAT3	chr11:63582315-63582546	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr11:63582356-63582556	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr11:63582447-63582555	GM12878	blood:	n/a	n/a
5	MXI1	chr11:63579850-63582705	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr11:63581734-63582759	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:63582105-63582716	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:63581212-63582575	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr11:63581587-63582621	GM12878	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63579552..63584409-chr11:63604789..63609677,6	K562	blood:
2	chr11:63532131..63535124-chr11:63579146..63582872,4	K562	blood:
3	chr11:63570205..63572019-chr11:63580900..63582897,2	MCF-7	breast:
4	chr11:63581119..63583081-chr11:63638472..63640533,2	K562	blood:
5	chr11:63581060..63583015-chr11:63654229..63655873,2	MCF-7	breast:
6	chr11:63577221..63582686-chr11:63583021..63587487,9	MCF-7	breast:
7	chr11:63582446..63585592-chr11:63592203..63594925,4	K562	blood:
8	chr11:63448971..63451551-chr11:63580454..63582597,3	K562	blood:
9	chr11:63533773..63537846-chr11:63579275..63583196,6	MCF-7	breast:
10	chr11:63582150..63582705-chr11:63604619..63605149,2	MCF-7	breast:
11	chr11:63532131..63538052-chr11:63579345..63585604,10	K562	blood:
12	chr11:63437085..63438927-chr11:63580871..63582709,2	MCF-7	breast:
13	chr11:63582446..63584284-chr11:63593106..63594925,2	K562	blood:
14	chr11:63532069..63539323-chr11:63579489..63583130,14	MCF-7	breast:
15	chr11:63579552..63583589-chr11:63604564..63608557,6	K562	blood:
16	chr11:63582237..63585723-chr11:63588277..63590938,5	MCF-7	breast:

No data

Variant related genes	Relation type
C11orf84	TF binding region
ENSG00000168005	Chromatin interaction
ENSG00000188070	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000255651	Chromatin interaction
ENSG00000133318	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	chr11:63580400-63582800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:63580600-63582600	Active TSS	HSMMtube	muscle
5	chr11:63581200-63583200	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr11:63581400-63582600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:63581600-63582600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr11:63581600-63582600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr11:63581600-63582600	Enhancers	Stomach Mucosa	stomach
10	chr11:63581800-63582600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr11:63581800-63582600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:63581800-63582600	Flanking Active TSS	Brain Angular Gyrus	brain
13	chr11:63581800-63582600	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr11:63581800-63582600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
15	chr11:63581800-63582600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr11:63581800-63582600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr11:63581800-63582600	Flanking Active TSS	Fetal Intestine Small	intestine
18	chr11:63581800-63582600	Flanking Active TSS	Fetal Lung	lung
19	chr11:63581800-63582600	Flanking Active TSS	NH-A	brain
20	chr11:63581800-63582800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:63581800-63582800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:63581800-63582800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:63581800-63582800	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr11:63581800-63583000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:63581800-63583000	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr11:63581800-63583000	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr11:63581800-63583000	Flanking Active TSS	HUVEC	blood vessel
28	chr11:63581800-63583200	Flanking Active TSS	Fetal Brain Female	brain
29	chr11:63581800-63583600	Enhancers	Spleen	Spleen
30	chr11:63582000-63582600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:63582000-63582600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr11:63582000-63582600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr11:63582000-63582600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:63582000-63582600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:63582000-63582600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr11:63582000-63582600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:63582000-63582600	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr11:63582000-63582600	Flanking Active TSS	Fetal Stomach	stomach
39	chr11:63582000-63582600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr11:63582000-63582600	Flanking Active TSS	Hela-S3	cervix
41	chr11:63582000-63582600	Flanking Active TSS	HMEC	breast
42	chr11:63582000-63582800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:63582000-63582800	Enhancers	Primary B cells from cord blood	blood
44	chr11:63582000-63582800	Enhancers	Liver	Liver
45	chr11:63582000-63582800	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
46	chr11:63582000-63583000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:63582000-63583000	Enhancers	Primary T cells fromperipheralblood	blood
48	chr11:63582000-63583000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:63582000-63583000	Flanking Active TSS	Osteobl	bone
50	chr11:63582000-63583200	Flanking Active TSS	NHLF	lung

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