Variant report

Variant	rs544155785
Chromosome Location	chr11:64543761-64543762
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64543464-64544300	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:64543546-64545301	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:64542334-64543893	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr11:64543367-64547573	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:64543700-64545290	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:64543524-64543949	K562	blood:	n/a	n/a
7	ZNF274	chr11:64543659-64544516	K562	blood:	n/a	n/a
8	POLR2A	chr11:64543756-64544124	K562	blood:	n/a	n/a
9	POLR2A	chr11:64543530-64543840	K562	blood:	n/a	n/a
10	POLR2A	chr11:64543502-64544026	GM12892	blood:	n/a	n/a
11	BDP1	chr11:64543481-64544074	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:64543360-64545489	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr11:64543488-64544176	GM12892	blood:	n/a	n/a
14	WRNIP1	chr11:64543657-64544169	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:64543621-64543836	GM12891	blood:	n/a	n/a
16	POLR2A	chr11:64543658-64544046	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:64543535-64543772	H1-hESC	embryonic stem cell:	n/a	n/a
18	HEY1	chr11:64543470-64543878	K562	blood:	n/a	n/a
19	POLR2A	chr11:64542286-64545559	GM12878	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64543661..64548104-chr11:64572931..64579605,12	MCF-7	breast:
2	chr11:64542437..64548103-chr11:64565883..64573066,9	K562	blood:
3	chr11:64542430..64545109-chr11:64658977..64660541,2	MCF-7	breast:
4	chr11:64543744..64547403-chr11:64610118..64615032,5	K562	blood:
5	chr11:64510354..64515027-chr11:64543156..64548358,11	K562	blood:
6	chr11:64543733..64546506-chr11:64646290..64648884,3	K562	blood:
7	chr11:64543629..64546477-chr11:65627505..65629510,2	K562	blood:
8	chr11:64542629..64545284-chr11:64654833..64657442,2	MCF-7	breast:
9	chr11:64509537..64511345-chr11:64541994..64543895,2	MCF-7	breast:
10	chr11:64543505..64547238-chr11:64690556..64694712,4	K562	blood:
11	chr11:64543298..64549423-chr11:64566945..64572163,10	K562	blood:
12	chr11:64543433..64548261-chr11:64608025..64614805,12	MCF-7	breast:
13	chr11:64543733..64546227-chr11:64645757..64648257,3	K562	blood:
14	chr11:64541597..64544545-chr11:64880144..64882808,3	K562	blood:
15	chr11:64542963..64545038-chr11:64555402..64557551,2	MCF-7	breast:

No data

Variant related genes	Relation type
SF1	TF binding region
ENSG00000269038	TF binding region
ENSG00000068831	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000133895	Chromatin interaction
ENSG00000168067	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000172732	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64530400-64544200	Strong transcription	Placenta Amnion	Placenta Amnion
2	chr11:64530600-64544400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:64532000-64543800	Strong transcription	Osteobl	bone
4	chr11:64532000-64544000	Strong transcription	Colonic Mucosa	Colon
5	chr11:64532000-64544000	Strong transcription	Fetal Stomach	stomach
6	chr11:64532400-64543800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:64532400-64544000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr11:64532600-64544200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr11:64532600-64544400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr11:64532800-64543800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr11:64532800-64544200	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr11:64533200-64543800	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:64534600-64544200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:64534800-64544000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:64535400-64544000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
16	chr11:64535600-64543800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:64535800-64544000	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr11:64535800-64544200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:64537800-64544200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:64537800-64544200	Genic enhancers	Colon Smooth Muscle	Colon
21	chr11:64537800-64544400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:64538800-64543800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
23	chr11:64538800-64544400	Genic enhancers	Primary monocytes fromperipheralblood	blood
24	chr11:64539000-64543800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:64539000-64544000	Genic enhancers	Stomach Smooth Muscle	stomach
26	chr11:64539200-64544200	Genic enhancers	Brain Hippocampus Middle	brain
27	chr11:64539400-64544000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:64539400-64544000	Genic enhancers	Psoas Muscle	Psoas
29	chr11:64539600-64543800	Strong transcription	Fetal Kidney	kidney
30	chr11:64539600-64544200	Genic enhancers	Adipose Nuclei	Adipose
31	chr11:64539800-64543800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:64540000-64544000	Genic enhancers	Fetal Heart	heart
33	chr11:64540200-64543800	Strong transcription	Fetal Brain Male	brain
34	chr11:64540200-64544200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr11:64540400-64544000	Genic enhancers	Brain Angular Gyrus	brain
36	chr11:64540600-64544000	Genic enhancers	Primary B cells from peripheral blood	blood
37	chr11:64540800-64544200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:64541400-64543800	Strong transcription	HSMMtube	muscle
39	chr11:64541400-64544200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr11:64541800-64544000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:64541800-64545200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
42	chr11:64542000-64543800	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:64542000-64543800	Strong transcription	Aorta	Aorta
44	chr11:64542000-64543800	Strong transcription	Brain Substantia Nigra	brain
45	chr11:64542000-64544000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:64542000-64544400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:64542400-64544000	Genic enhancers	Brain Anterior Caudate	brain
48	chr11:64542400-64544400	Genic enhancers	Liver	Liver
49	chr11:64542600-64544000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:64542600-64544200	Genic enhancers	Primary hematopoietic stem cells	blood

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