Variant report

Variant	rs551282967
Chromosome Location	chr1:45189266-45189267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr1:45189017-45189583	GM12891	blood:	n/a	chr1:45189379-45189392
2	SPI1	chr1:45189099-45189371	K562	blood:	n/a	n/a
3	YY1	chr1:45189192-45189573	GM12878	blood:	n/a	n/a
4	POU2F2	chr1:45188864-45189506	GM12891	blood:	n/a	n/a
5	BCLAF1	chr1:45188995-45189628	GM12878	blood:	n/a	chr1:45189390-45189399
6	IRF4	chr1:45188984-45189595	GM12878	blood:	n/a	n/a
7	SPI1	chr1:45188683-45189779	GM12878	blood:	n/a	chr1:45189379-45189392
8	FOXM1	chr1:45189090-45189575	GM12878	blood:	n/a	n/a
9	PML	chr1:45189133-45189462	GM12878	blood:	n/a	n/a
10	ETS1	chr1:45189135-45189591	GM12878	blood:	n/a	chr1:45189390-45189403
11	RCOR1	chr1:45188943-45189499	GM12878	blood:	n/a	n/a
12	SPI1	chr1:45189091-45189348	K562	blood:	n/a	n/a
13	NFIC	chr1:45189012-45189600	GM12878	blood:	n/a	n/a
14	MAX	chr1:45189012-45189460	GM12878	blood:	n/a	n/a
15	REST	chr1:45189056-45189387	Hela-S3	cervix:	n/a	n/a
16	EP300	chr1:45189253-45189345	GM12878	blood:	n/a	n/a
17	EBF1	chr1:45189025-45189516	GM12878	blood:	n/a	n/a
18	SPI1	chr1:45188939-45189517	HL-60	blood:	n/a	chr1:45189379-45189392
19	MAX	chr1:45188846-45190776	NB4	blood:	n/a	n/a
20	EP300	chr1:45188982-45189501	GM12878	blood:	n/a	n/a
21	RELA	chr1:45188946-45189552	GM19099	blood:	n/a	n/a
22	RUNX3	chr1:45188798-45189628	GM12878	blood:	n/a	n/a
23	SPI1	chr1:45188870-45189680	HL-60	blood:	n/a	chr1:45189379-45189392
24	IRF4	chr1:45189080-45189575	GM12878	blood:	n/a	n/a
25	MEF2A	chr1:45189088-45189508	GM12878	blood:	n/a	chr1:45189392-45189400
26	NFYB	chr1:45189212-45189412	GM12878	blood:	n/a	n/a
27	ATF2	chr1:45188971-45189598	GM12878	blood:	n/a	n/a
28	RUNX3	chr1:45188731-45189576	GM12878	blood:	n/a	n/a
29	NFIC	chr1:45188916-45189579	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:45188746-45191415	HL-60	blood:	n/a	n/a
31	POLR2A	chr1:45188772-45191165	HL-60	blood:	n/a	n/a
32	YY1	chr1:45189224-45189681	GM12878	blood:	n/a	n/a
33	MYC	chr1:45188879-45190790	NB4	blood:	n/a	n/a
34	ZNF143	chr1:45189061-45189381	GM12878	blood:	n/a	n/a
35	SPI1	chr1:45188994-45189515	GM12878	blood:	n/a	chr1:45189379-45189392
36	POLR2A	chr1:45188846-45189598	GM12891	blood:	n/a	n/a
37	EBF1	chr1:45189131-45189417	GM12878	blood:	n/a	n/a
38	WRNIP1	chr1:45188863-45189443	GM12878	blood:	n/a	n/a
39	IKZF1	chr1:45188964-45189609	GM12878	blood:	n/a	n/a
40	ELK1	chr1:45189103-45189358	GM12878	blood:	n/a	n/a
41	PML	chr1:45188815-45189701	GM12878	blood:	n/a	n/a
42	MTA3	chr1:45188740-45189665	GM12878	blood:	n/a	n/a
43	SPI1	chr1:45188977-45189585	GM12891	blood:	n/a	chr1:45189379-45189392
44	SP1	chr1:45189107-45189528	GM12878	blood:	n/a	chr1:45189398-45189411
45	ELF1	chr1:45188873-45189573	GM12878	blood:	n/a	n/a
46	ELF1	chr1:45189052-45189405	K562	blood:	n/a	n/a
47	POLR2A	chr1:45188941-45190728	NB4	blood:	n/a	n/a
48	EBF1	chr1:45189131-45189477	GM12878	blood:	n/a	n/a
49	MTA3	chr1:45188712-45189730	GM12878	blood:	n/a	n/a
50	SPI1	chr1:45189085-45189412	GM12878	blood:	n/a	chr1:45189379-45189392

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45184334..45189303-chr1:45475138..45480545,18	K562	blood:
2	chr1:45184712..45189957-chr1:45986029..45989344,7	K562	blood:
3	chr1:45095364..45099259-chr1:45185766..45189852,13	K562	blood:
4	chr1:45179633..45191596-chr1:45283435..45288613,20	MCF-7	breast:
5	chr1:45086647..45106769-chr1:45179099..45192041,56	K562	blood:
6	chr1:45187577..45189400-chr1:45255993..45258974,2	MCF-7	breast:
7	chr1:45187439..45189397-chr1:145382385..145384052,2	K562	blood:
8	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
9	chr1:45183794..45190315-chr1:45281186..45287888,32	MCF-7	breast:
10	chr1:45185676..45189343-chr1:46151396..46155571,4	K562	blood:
11	chr1:45187347..45189576-chr18:3253847..3255947,2	K562	blood:
12	chr1:44494778..44496381-chr1:45187720..45189290,2	K562	blood:
13	chr1:45184399..45189674-chr1:45270870..45279135,15	MCF-7	breast:
14	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:
15	chr1:45186381..45189343-chr12:121198720..121200674,2	K562	blood:
16	chr1:45184334..45189289-chr1:45475449..45480431,12	K562	blood:
17	chr1:45187273..45189411-chr14:24581564..24584245,2	MCF-7	breast:
18	chr1:45186940..45189725-chr3:64007164..64009117,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU5F-1	TF binding region
C1orf228	TF binding region
ENSG00000100897	Chromatin interaction
ENSG00000159596	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000233396	Chromatin interaction
ENSG00000163636	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000187147	Chromatin interaction
ENSG00000255946	Chromatin interaction
ENSG00000159592	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000188396	Chromatin interaction
ENSG00000117425	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000222009	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000101608	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
5	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
6	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
7	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
8	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
9	esv3375806	chr1:45189190-45191738	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45174400-45190400	Weak transcription	Lung	lung
2	chr1:45181200-45194800	Weak transcription	Brain Anterior Caudate	brain
3	chr1:45184000-45191000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:45185200-45190600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:45185200-45192400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:45185600-45192200	Weak transcription	NHDF-Ad	bronchial
7	chr1:45185600-45194800	Weak transcription	Dnd41	blood
8	chr1:45186000-45189600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:45186000-45190200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:45186200-45192400	Weak transcription	HSMM	muscle
11	chr1:45187800-45189400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:45187800-45196200	Weak transcription	Right Atrium	heart
13	chr1:45188000-45189400	Enhancers	K562	blood
14	chr1:45188000-45190800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:45188000-45191000	Weak transcription	HepG2	liver
16	chr1:45188000-45192400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:45188000-45192400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:45188000-45192400	Weak transcription	A549	lung
19	chr1:45188000-45192400	Weak transcription	Osteobl	bone
20	chr1:45188000-45195800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:45188200-45189400	Enhancers	Colonic Mucosa	Colon
22	chr1:45188200-45190800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:45188600-45190800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:45188600-45190800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr1:45188800-45189400	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr1:45188800-45189400	Flanking Active TSS	Thymus	Thymus
27	chr1:45188800-45189600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr1:45188800-45189600	Enhancers	Placenta	Placenta
29	chr1:45188800-45189600	Active TSS	Rectal Smooth Muscle	rectum
30	chr1:45188800-45189800	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr1:45188800-45189800	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr1:45188800-45189800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:45188800-45189800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:45188800-45189800	Enhancers	Liver	Liver
35	chr1:45188800-45189800	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr1:45188800-45190000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr1:45188800-45190000	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr1:45188800-45190000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr1:45188800-45190000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:45188800-45190000	Flanking Active TSS	GM12878-XiMat	blood
41	chr1:45188800-45190200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr1:45188800-45190200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr1:45188800-45190200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr1:45188800-45190600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr1:45188800-45190800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr1:45188800-45190800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr1:45188800-45190800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:45189000-45189400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr1:45189000-45189600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr1:45189000-45189800	Flanking Active TSS	Primary B cells from peripheral blood	blood

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