Variant report

Variant	rs192273066
Chromosome Location	chr11:64544664-64544665
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64544586-64544783	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr11:64543546-64545301	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:64543918-64547780	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr11:64544367-64545561	GM12891	blood:	n/a	n/a
5	POLR2A	chr11:64544524-64544757	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:64544498-64547110	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr11:64543367-64547573	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:64543700-64545290	HepG2	liver:	n/a	n/a
9	TBL1XR1	chr11:64544413-64545126	K562	blood:	n/a	n/a
10	POLR2A	chr11:64544322-64545618	GM12892	blood:	n/a	n/a
11	REST	chr11:64544574-64545451	HL-60	blood:	n/a	chr11:64545010-64545030 chr11:64545263-64545276 chr11:64545110-64545130
12	MAZ	chr11:64544334-64546894	IMR90	lung:	n/a	chr11:64546611-64546620 chr11:64546607-64546616
13	REST	chr11:64544586-64545273	ECC-1	luminal epithelium:	n/a	chr11:64545010-64545030 chr11:64545110-64545130
14	POLR2A	chr11:64544394-64547387	GM12892	blood:	n/a	n/a
15	POLR2A	chr11:64544197-64547572	K562	blood:	n/a	n/a
16	REST	chr11:64544594-64545356	PANC-1	pancreas:	n/a	chr11:64545010-64545030 chr11:64545263-64545276 chr11:64545110-64545130
17	POLR2A	chr11:64543360-64545489	SK-N-MC	brain:	n/a	n/a
18	MXI1	chr11:64544219-64547118	IMR90	lung:	n/a	chr11:64546605-64546620
19	POLR2A	chr11:64544180-64545338	K562	blood:	n/a	n/a
20	WRNIP1	chr11:64544502-64545203	GM12878	blood:	n/a	n/a
21	HEY1	chr11:64544430-64545597	K562	blood:	n/a	chr11:64545202-64545217
22	JUN	chr11:64544560-64547261	K562	blood:	n/a	chr11:64546317-64546326 chr11:64545249-64545258
23	POLR2A	chr11:64544229-64546815	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr11:64544419-64546900	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:64544471-64544810	MCF-7	breast:	n/a	n/a
26	POLR2A	chr11:64544413-64545434	PFSK-1	brain:	n/a	n/a
27	REST	chr11:64544578-64545321	A549	lung:	n/a	chr11:64545010-64545030 chr11:64545263-64545276 chr11:64545110-64545130
28	POLR2A	chr11:64544210-64545438	GM12892	blood:	n/a	n/a
29	POLR2A	chr11:64544596-64546987	PFSK-1	brain:	n/a	n/a
30	USF2	chr11:64544442-64545167	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr11:64542286-64545559	GM12878	blood:	n/a	n/a
32	STAT5A	chr11:64544348-64545232	GM12878	blood:	n/a	n/a
33	HCFC1	chr11:64544624-64547289	Hela-S3	cervix:	n/a	n/a
34	CHD1	chr11:64544614-64544974	GM12878	blood:	n/a	n/a

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64543661..64548104-chr11:64572931..64579605,12	MCF-7	breast:
2	chr11:64544232..64545982-chr11:64875134..64877801,2	MCF-7	breast:
3	chr11:64544180..64546675-chr11:64850197..64851760,2	MCF-7	breast:
4	chr11:64544371..64546795-chr11:65624012..65625591,2	K562	blood:
5	chr11:64542437..64548103-chr11:64565883..64573066,9	K562	blood:
6	chr11:64544093..64548175-chr11:64656540..64660044,4	K562	blood:
7	chr11:64083115..64085565-chr11:64544305..64546685,2	K562	blood:
8	chr11:64542430..64545109-chr11:64658977..64660541,2	MCF-7	breast:
9	chr11:64544525..64547813-chr11:64683284..64685866,4	K562	blood:
10	chr11:64544026..64547354-chr11:64610476..64614597,11	MCF-7	breast:
11	chr11:64543951..64548420-chr11:64681372..64686852,8	K562	blood:
12	11:64523887-64530985..11:64544271-64544826	Hela-S3	cervix:
13	chr11:64017295..64020181-chr11:64543928..64546600,2	MCF-7	breast:
14	chr11:64544278..64546281-chr11:64845334..64847627,2	MCF-7	breast:
15	chr11:64543744..64547403-chr11:64610118..64615032,5	K562	blood:
16	chr11:64543854..64548930-chr11:64577046..64580073,7	K562	blood:
17	chr11:64510354..64515027-chr11:64543156..64548358,11	K562	blood:
18	chr11:64543733..64546506-chr11:64646290..64648884,3	K562	blood:
19	chr11:64544644..64548990-chr11:64609868..64612302,3	K562	blood:
20	chr11:64543629..64546477-chr11:65627505..65629510,2	K562	blood:
21	chr11:64542629..64545284-chr11:64654833..64657442,2	MCF-7	breast:
22	chr11:64544159..64547610-chr11:64575495..64579776,5	K562	blood:
23	chr11:64543505..64547238-chr11:64690556..64694712,4	K562	blood:
24	chr11:64543298..64549423-chr11:64566945..64572163,10	K562	blood:
25	chr11:64544574..64547411-chr11:64891542..64893399,2	MCF-7	breast:
26	chr11:64126546..64128128-chr11:64543926..64545937,2	K562	blood:
27	chr11:64544278..64548048-chr11:64882517..64885401,5	K562	blood:
28	chr11:64543433..64548261-chr11:64608025..64614805,12	MCF-7	breast:
29	chr11:64544185..64546327-chr11:64562528..64564348,2	K562	blood:
30	chr11:64543824..64546166-chr11:66233104..66235592,3	MCF-7	breast:
31	chr11:64008164..64010074-chr11:64544584..64546736,2	MCF-7	breast:
32	chr11:64544093..64547951-chr11:64656650..64658815,3	K562	blood:
33	chr11:64544538..64546780-chr11:64879402..64882290,2	MCF-7	breast:
34	chr11:64490193..64492198-chr11:64544563..64546459,2	MCF-7	breast:
35	chr11:64543733..64546227-chr11:64645757..64648257,3	K562	blood:
36	chr11:64544182..64546603-chr11:64644783..64646727,4	MCF-7	breast:
37	chr11:64544471..64546951-chr11:64883207..64885206,3	K562	blood:
38	chr11:64542963..64545038-chr11:64555402..64557551,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269038	TF binding region
ENSG00000174547	Chromatin interaction
ENSG00000149782	Chromatin interaction
ENSG00000173113	Chromatin interaction
ENSG00000133895	Chromatin interaction
ENSG00000207648	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000126432	Chromatin interaction
ENSG00000229719	Chromatin interaction
ENSG00000203400	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000110076	Chromatin interaction
ENSG00000168067	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000174516	Chromatin interaction
ENSG00000173486	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000068976	Chromatin interaction
ENSG00000267804	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000162302	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv818842	chr11:64345448-64546391	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
4	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
5	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
6	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv897697	chr11:64447420-64584959	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
8	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription 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	82 gene(s)	inside rSNPs	diseases
9	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
10	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription 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	1071 gene(s)	inside rSNPs	diseases
11	nsv555202	chr11:64477050-64573589	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
12	nsv468597	chr11:64477050-64584959	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
13	nsv468598	chr11:64477050-64584959	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
14	nsv555203	chr11:64477050-64584959	Strong transcription Genic enhancers Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
15	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
16	nsv832189	chr11:64487183-64620199	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
17	nsv469962	chr11:64527080-64621573	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
18	nsv897702	chr11:64532579-64584231	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
19	nsv825947	chr11:64538092-64550927	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
20	nsv897703	chr11:64538346-64574200	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
21	nsv825948	chr11:64541003-64550185	Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
22	esv3323089	chr11:64543376-64547574	Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
23	esv3341708	chr11:64544401-64546949	Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
24	esv3331228	chr11:64544551-64546874	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64541800-64545200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
2	chr11:64542600-64545000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
3	chr11:64542800-64545000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
4	chr11:64542800-64545200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:64542800-64545200	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr11:64543200-64545200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
7	chr11:64543200-64545200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
8	chr11:64543600-64544800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:64543600-64545000	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
10	chr11:64543600-64545000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:64543600-64545000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:64543600-64545000	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
13	chr11:64543600-64545200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:64543600-64545200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:64543600-64545200	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
16	chr11:64543600-64545200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
17	chr11:64543600-64545200	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
18	chr11:64543600-64545200	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
19	chr11:64543600-64545200	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:64543600-64545200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
21	chr11:64543600-64545200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:64543600-64545200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:64543600-64545200	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
24	chr11:64543600-64545200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
25	chr11:64543600-64545200	Transcr. at gene 5' and 3'	A549	lung
26	chr11:64543600-64545200	Transcr. at gene 5' and 3'	Hela-S3	cervix
27	chr11:64543600-64545200	Transcr. at gene 5' and 3'	HepG2	liver
28	chr11:64543600-64545200	Transcr. at gene 5' and 3'	HMEC	breast
29	chr11:64543800-64544800	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
30	chr11:64543800-64544800	Transcr. at gene 5' and 3'	NH-A	brain
31	chr11:64543800-64544800	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
32	chr11:64543800-64545000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
33	chr11:64543800-64545000	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:64543800-64545200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
35	chr11:64543800-64545200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
36	chr11:64543800-64545200	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:64543800-64545200	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
38	chr11:64544000-64544800	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
39	chr11:64544000-64544800	Flanking Active TSS	Psoas Muscle	Psoas
40	chr11:64544000-64544800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
41	chr11:64544000-64544800	Transcr. at gene 5' and 3'	Small Intestine	intestine
42	chr11:64544000-64545000	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
43	chr11:64544000-64545000	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
44	chr11:64544000-64545000	Transcr. at gene 5' and 3'	HUVEC	blood vessel
45	chr11:64544000-64545200	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
46	chr11:64544000-64545200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:64544000-64545200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:64544000-64545200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
49	chr11:64544000-64545200	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
50	chr11:64544000-64545200	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood

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