Variant report

Variant	rs533357574
Chromosome Location	chr11:47290428-47290429
allele	C/T
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	chr11:47290301-47291880	PFSK-1	brain:	n/a	chr11:47291210-47291223 chr11:47291653-47291663 chr11:47290941-47290954
2	HMGN3	chr11:47290376-47291896	K562	blood:	n/a	n/a
3	POLR2A	chr11:47290276-47291902	HUVEC	blood vessel:	n/a	n/a
4	ELF1	chr11:47290124-47291312	MCF-7	breast:	n/a	chr11:47290538-47290549 chr11:47291054-47291067 chr11:47290911-47290922 chr11:47291096-47291108 chr11:47290537-47290548 chr11:47291211-47291223
5	EP300	chr11:47290332-47291123	K562	blood:	n/a	chr11:47290538-47290547 chr11:47290913-47290922
6	IRF1	chr11:47290220-47291902	K562	blood:	n/a	chr11:47291060-47291069 chr11:47290893-47290906 chr11:47291308-47291322
7	PML	chr11:47290271-47291942	K562	blood:	n/a	chr11:47290674-47290682
8	REST	chr11:47289996-47291336	HL-60	blood:	n/a	chr11:47291210-47291223 chr11:47290941-47290954
9	SPI1	chr11:47290248-47291151	GM12891	blood:	n/a	chr11:47290911-47290924 chr11:47290537-47290550 chr11:47290910-47290923 chr11:47290538-47290547
10	MAX	chr11:47290400-47291869	Hela-S3	cervix:	n/a	chr11:47291637-47291647
11	TAF1	chr11:47290414-47291906	ECC-1	luminal epithelium:	n/a	n/a
12	REST	chr11:47290363-47291270	PFSK-1	brain:	n/a	chr11:47291210-47291223 chr11:47290941-47290954
13	KAP1	chr11:47290398-47291098	U2OS	brain:	n/a	chr11:47290674-47290682
14	FOXM1	chr11:47290343-47291636	GM12878	blood:	n/a	chr11:47291129-47291137
15	POLR2A	chr11:47290308-47291919	U87	brain:	n/a	n/a
16	EP300	chr11:47290363-47290732	HepG2	liver:	n/a	chr11:47290538-47290547
17	RUNX3	chr11:47290263-47291865	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:47290131-47291929	K562	blood:	n/a	n/a
19	CBX3	chr11:47290189-47291670	K562	blood:	n/a	n/a
20	POLR2A	chr11:47290109-47292622	K562	blood:	n/a	n/a
21	GABPA	chr11:47290298-47291329	HL-60	blood:	n/a	n/a
22	SPI1	chr11:47290141-47291281	HL-60	blood:	n/a	chr11:47290911-47290924 chr11:47290537-47290550 chr11:47290910-47290923 chr11:47290538-47290547
23	TCF12	chr11:47290240-47291991	A549	lung:	n/a	n/a
24	REST	chr11:47290407-47290732	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr11:47290308-47291867	PBDE	blood:	n/a	n/a
26	GABPA	chr11:47290151-47291414	MCF-7	breast:	n/a	n/a
27	POLR2A	chr11:47290329-47291941	GM18526	blood:	n/a	n/a
28	ZMIZ1	chr11:47290428-47291844	K562	blood:	n/a	n/a
29	MYBL2	chr11:47290320-47291745	HepG2	liver:	n/a	n/a
30	POLR2A	chr11:47290335-47291889	HepG2	liver:	n/a	n/a
31	POLR2A	chr11:47290264-47291932	GM12891	blood:	n/a	n/a
32	POLR2A	chr11:47290093-47291914	GM12878	blood:	n/a	n/a
33	SP1	chr11:47290366-47291880	A549	lung:	n/a	chr11:47291097-47291108 chr11:47291308-47291320 chr11:47290695-47290704 chr11:47291099-47291108 chr11:47291309-47291318
34	SPI1	chr11:47290421-47290655	GM12878	blood:	n/a	chr11:47290537-47290550 chr11:47290538-47290547
35	SMARCC1	chr11:47290327-47291082	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr11:47290376-47291903	GM12891	blood:	n/a	n/a
37	TAF1	chr11:47290395-47290782	GM12878	blood:	n/a	n/a
38	ELF1	chr11:47290173-47291919	HepG2	liver:	n/a	chr11:47290538-47290549 chr11:47291054-47291067 chr11:47291632-47291644 chr11:47290911-47290922 chr11:47291746-47291755 chr11:47291096-47291108 chr11:47290537-47290548 chr11:47291211-47291223
39	MYC	chr11:47290322-47291856	K562	blood:	n/a	chr11:47291637-47291647
40	EBF1	chr11:47290393-47290455	GM12878	blood:	n/a	n/a
41	TAF1	chr11:47290414-47291811	SK-N-SH	brain:	n/a	n/a
42	NR2F2	chr11:47289867-47291644	K562	blood:	n/a	n/a
43	TAF1	chr11:47290369-47291273	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr11:47290360-47290510	HAc	cerebellar:	n/a	n/a
45	TCF12	chr11:47290421-47290755	GM12878	blood:	n/a	n/a
46	MAZ	chr11:47290307-47291878	GM12878	blood:	n/a	chr11:47291637-47291647
47	IRF1	chr11:47290399-47291815	K562	blood:	n/a	chr11:47291060-47291069 chr11:47290893-47290906 chr11:47291308-47291322
48	E2F4	chr11:47290329-47291867	K562	blood:	n/a	chr11:47291290-47291297 chr11:47291511-47291526 chr11:47291513-47291525 chr11:47291512-47291523 chr11:47291208-47291217
49	CTBP2	chr11:47290097-47291166	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr11:47290332-47290575	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47267881..47272421-chr11:47288787..47294481,12	K562	blood:
2	chr11:47290254..47293439-chr11:47374246..47378968,6	MCF-7	breast:
3	chr11:47195816..47200318-chr11:47289518..47292814,8	K562	blood:
4	chr11:47289845..47291400-chr11:47428671..47431411,2	K562	blood:
5	chr11:47194502..47201735-chr11:47289181..47294156,14	K562	blood:
6	chr11:47289567..47294786-chr11:47310778..47315538,7	MCF-7	breast:
7	chr11:47190024..47192945-chr11:47289457..47292109,2	MCF-7	breast:
8	chr11:46401780..46403457-chr11:47290200..47292891,2	MCF-7	breast:
9	chr11:47279843..47284326-chr11:47288675..47293634,16	MCF-7	breast:
10	chr11:47263865..47272320-chr11:47288426..47294726,14	MCF-7	breast:
11	chr11:47264797..47267629-chr11:47289343..47292246,3	K562	blood:
12	chr11:47235395..47237642-chr11:47289103..47291887,3	K562	blood:
13	chr11:47289554..47292260-chr11:47397624..47400665,3	K562	blood:
14	chr11:47235321..47238553-chr11:47290387..47292949,4	K562	blood:
15	chr11:47277979..47283267-chr11:47289057..47293509,9	K562	blood:
16	chr11:47204494..47207545-chr11:47289955..47292546,3	K562	blood:
17	chr11:47268938..47272778-chr11:47288986..47293565,7	MCF-7	breast:
18	chr11:47290108..47290613-chr18:72920385..72921136,2	Hela-S3	cervix:
19	chr11:47268303..47273264-chr11:47289525..47294481,12	K562	blood:
20	chr11:47195231..47200543-chr11:47288487..47293127,12	MCF-7	breast:
21	chr11:47205837..47210171-chr11:47289770..47293955,7	MCF-7	breast:
22	chr11:47235151..47238129-chr11:47286989..47291992,5	MCF-7	breast:
23	chr11:47290389..47294105-chr11:47428413..47432863,5	MCF-7	breast:
24	chr11:47289999..47290526-chr19:48972377..48973084,2	NB4	blood:
25	chr11:47207085..47210178-chr11:47288214..47292056,4	MCF-7	breast:
26	chr11:47196068..47203526-chr11:47288943..47293025,13	MCF-7	breast:
27	chr1:27190750..27191665-chr11:47290111..47290665,2	Hela-S3	cervix:

Variant related genes	Relation type
MADD	TF binding region
ENSG00000066336	Chromatin interaction
ENSG00000110492	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000180011	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000105443	Chromatin interaction
ENSG00000149182	Chromatin interaction
ENSG00000268530	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000270060	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000134571	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000255197	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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	esv3407193	chr11:47290401-47292949	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 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	chr11:47280200-47290600	Weak transcription	Ovary	ovary
2	chr11:47280200-47290800	Weak transcription	Aorta	Aorta
3	chr11:47281000-47290800	Weak transcription	Small Intestine	intestine
4	chr11:47288800-47290600	Enhancers	Placenta	Placenta
5	chr11:47289000-47290600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:47289000-47290800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:47289200-47290800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:47289400-47290600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:47289400-47290600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:47289400-47290600	Genic enhancers	Liver	Liver
11	chr11:47289400-47290600	Enhancers	Pancreas	Pancrea
12	chr11:47289400-47290600	Genic enhancers	NHLF	lung
13	chr11:47289400-47290800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:47289400-47290800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:47289400-47291200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:47289600-47290600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:47289600-47290600	Enhancers	Brain Substantia Nigra	brain
18	chr11:47289600-47290600	Enhancers	Fetal Heart	heart
19	chr11:47289600-47291200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr11:47289800-47290600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr11:47289800-47290600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr11:47289800-47290600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr11:47289800-47290600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:47289800-47290600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr11:47289800-47290600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:47289800-47290600	Enhancers	Left Ventricle	heart
27	chr11:47289800-47290600	Transcr. at gene 5' and 3'	Hela-S3	cervix
28	chr11:47289800-47290800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:47289800-47290800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr11:47289800-47291000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr11:47289800-47291000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr11:47289800-47291200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:47290000-47290600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:47290000-47290600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:47290000-47290600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr11:47290000-47290600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr11:47290000-47290600	Flanking Active TSS	Fetal Brain Female	brain
38	chr11:47290000-47290600	Flanking Active TSS	Fetal Kidney	kidney
39	chr11:47290000-47290600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr11:47290000-47290600	Enhancers	Right Ventricle	heart
41	chr11:47290000-47290600	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr11:47290000-47290600	Flanking Active TSS	HepG2	liver
43	chr11:47290000-47290800	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr11:47290000-47290800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr11:47290000-47291000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr11:47290000-47291000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr11:47290000-47291000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr11:47290000-47291000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:47290000-47291000	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr11:47290000-47291000	Flanking Active TSS	Fetal Lung	lung

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