Variant report

Variant	rs45493400
Chromosome Location	chr11:73693072-73693073
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	POLR2A	chr11:73692276-73693259	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:73692165-73694830	GM12892	blood:	n/a	n/a
3	MAX	chr11:73692870-73695207	A549	lung:	n/a	chr11:73694793-73694800
4	PML	chr11:73692488-73693446	GM12878	blood:	n/a	n/a
5	SPI1	chr11:73692734-73693098	HL-60	blood:	n/a	chr11:73692893-73692906 chr11:73692841-73692854
6	POLR2A	chr11:73692574-73693285	GM12891	blood:	n/a	n/a
7	POLR2A	chr11:73692325-73694919	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr11:73690723-73695117	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:73690936-73695497	HL-60	blood:	n/a	n/a
10	POLR2A	chr11:73678522-73695046	PBDE	blood:	n/a	n/a
11	TCF12	chr11:73692928-73693420	A549	lung:	n/a	n/a
12	SPI1	chr11:73692594-73693156	HL-60	blood:	n/a	chr11:73692893-73692906 chr11:73692841-73692854
13	MAZ	chr11:73692725-73693279	K562	blood:	n/a	n/a
14	POLR2A	chr11:73690795-73694906	GM12892	blood:	n/a	n/a
15	HMGN3	chr11:73693016-73694804	K562	blood:	n/a	n/a
16	POLR2A	chr11:73692993-73695103	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:73690873-73693286	GM18505	blood:	n/a	n/a
18	GATA1	chr11:73690835-73693374	PBDE	blood:	n/a	chr11:73691173-73691183 chr11:73691780-73691789 chr11:73691026-73691036 chr11:73690905-73690912 chr11:73691323-73691330 chr11:73691781-73691798
19	E2F6	chr11:73693012-73694982	Hela-S3	cervix:	n/a	chr11:73693859-73693873 chr11:73694561-73694573 chr11:73693905-73693914
20	UBTF	chr11:73692995-73693257	K562	blood:	n/a	n/a
21	RCOR1	chr11:73692865-73693129	K562	blood:	n/a	n/a
22	MXI1	chr11:73692787-73693383	GM12878	blood:	n/a	n/a
23	MXI1	chr11:73692694-73695562	SK-N-SH	brain:	n/a	chr11:73692713-73692722
24	SIN3AK20	chr11:73692881-73695146	MCF-7	breast:	n/a	n/a
25	POLR2A	chr11:73687423-73695032	GM12891	blood:	n/a	n/a
26	MAX	chr11:73693032-73693408	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:73692554-73693269	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:73690892-73693113	GM12878	blood:	n/a	n/a
29	SPI1	chr11:73692667-73693073	GM12891	blood:	n/a	chr11:73692893-73692906 chr11:73692841-73692854
30	RCOR1	chr11:73692998-73693273	Hela-S3	cervix:	n/a	n/a
31	SPI1	chr11:73692514-73693261	GM12878	blood:	n/a	chr11:73692893-73692906 chr11:73692841-73692854
32	POLR2A	chr11:73692464-73694897	GM12892	blood:	n/a	n/a
33	POLR2A	chr11:73692592-73695403	K562	blood:	n/a	n/a
34	POLR2A	chr11:73688951-73694645	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:73692322-73695453	Raji	blood:	n/a	n/a
36	SMARCB1	chr11:73692385-73695065	Hela-S3	cervix:	n/a	n/a
37	MTA3	chr11:73690563-73695143	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:73690890-73694865	GM19193	blood:	n/a	n/a
39	POLR2A	chr11:73692455-73693438	HL-60	blood:	n/a	n/a
40	E2F6	chr11:73693005-73695293	H1-hESC	embryonic stem cell:	n/a	chr11:73693859-73693873 chr11:73694561-73694573 chr11:73693905-73693914
41	NR2F2	chr11:73692743-73693387	K562	blood:	n/a	n/a
42	NFIC	chr11:73691816-73693143	GM12878	blood:	n/a	chr11:73693008-73693025
43	RUNX3	chr11:73692739-73693326	GM12878	blood:	n/a	chr11:73693163-73693180
44	POLR2A	chr11:73690940-73693167	GM18951	blood:	n/a	n/a
45	BCLAF1	chr11:73692453-73693251	GM12878	blood:	n/a	n/a
46	POLR2A	chr11:73693045-73694963	HepG2	liver:	n/a	n/a
47	MYC	chr11:73692934-73693370	K562	blood:	n/a	n/a
48	MAX	chr11:73692960-73693424	K562	blood:	n/a	n/a
49	JUN	chr11:73692124-73695090	K562	blood:	n/a	chr11:73694560-73694569 chr11:73694434-73694443 chr11:73692450-73692462
50	MAX	chr11:73692636-73693232	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73692980..73694641-chr11:73795807..73797869,2	K562	blood:
2	chr11:73692359..73693859-chr11:73914650..73916719,2	K562	blood:
3	chr11:73692800..73696318-chr11:73880815..73883748,5	MCF-7	breast:
4	chr11:73586614..73588298-chr11:73691679..73694031,2	MCF-7	breast:
5	chr11:73691904..73697409-chr11:73796369..73799985,7	K562	blood:
6	chr11:73691320..73695538-chr11:73704392..73710067,8	MCF-7	breast:
7	chr11:73691455..73695821-chr11:73881160..73884452,10	K562	blood:
8	chr11:73661884..73663494-chr11:73691354..73693894,2	MCF-7	breast:
9	chr11:73692520..73695585-chr11:73801085..73803833,3	MCF-7	breast:
10	chr11:73691101..73695528-chr11:73777647..73786599,14	MCF-7	breast:
11	chr11:73692887..73694821-chr11:73796088..73798230,2	MCF-7	breast:
12	chr11:73692678..73695547-chr11:74458881..74460384,2	K562	blood:
13	chr11:73584965..73587189-chr11:73691735..73694698,2	K562	blood:
14	chr11:73587462..73590069-chr11:73692817..73694652,2	K562	blood:
15	chr11:73690232..73696227-chr11:73800984..73805427,5	MCF-7	breast:
16	chr11:73692196..73693796-chr11:73888424..73890180,2	MCF-7	breast:
17	chr11:73691754..73696567-chr11:73778152..73784121,11	MCF-7	breast:
18	chr11:73690208..73697157-chr11:73720249..73724103,9	K562	blood:

Variant related genes	Relation type
UCP2	TF binding region
ENSG00000256723	Chromatin interaction
ENSG00000214517	Chromatin interaction
ENSG00000175575	Chromatin interaction
ENSG00000175564	Chromatin interaction
ENSG00000168014	Chromatin interaction
ENSG00000187726	Chromatin interaction
ENSG00000166439	Chromatin interaction
ENSG00000181924	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs45453391	1.00[EUR][1000 genomes]
rs45490393	1.00[EUR][1000 genomes]
rs45504392	1.00[EUR][1000 genomes]
rs45508598	1.00[EUR][1000 genomes]
rs45516095	1.00[EUR][1000 genomes]
rs45520037	1.00[EUR][1000 genomes]
rs45537737	1.00[EUR][1000 genomes]
rs45541732	1.00[EUR][1000 genomes]
rs45565136	1.00[EUR][1000 genomes]
rs45567343	1.00[EUR][1000 genomes]
rs45583331	1.00[EUR][1000 genomes]
rs45585032	1.00[EUR][1000 genomes]
rs45600039	1.00[EUR][1000 genomes]
rs45626332	1.00[EUR][1000 genomes]
rs58670711	1.00[EUR][1000 genomes]
rs58950129	1.00[EUR][1000 genomes]
rs60141953	1.00[EUR][1000 genomes]
rs73555983	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	esv1827060	chr11:73670645-73694754	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv520299	chr11:73684294-73694754	Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73672800-73693200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:73676400-73693200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:73688000-73693400	Weak transcription	Brain Angular Gyrus	brain
4	chr11:73688000-73693800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
5	chr11:73688400-73694400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
6	chr11:73689400-73693200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:73690200-73693400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:73690800-73693200	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
9	chr11:73690800-73693200	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr11:73690800-73693800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr11:73691000-73693800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr11:73691200-73693200	Transcr. at gene 5' and 3'	Dnd41	blood
13	chr11:73691200-73693600	Weak transcription	Aorta	Aorta
14	chr11:73691400-73693200	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
15	chr11:73691400-73693600	Weak transcription	HMEC	breast
16	chr11:73691600-73693800	Flanking Active TSS	Colonic Mucosa	Colon
17	chr11:73691800-73693200	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr11:73691800-73693200	Flanking Active TSS	Stomach Mucosa	stomach
19	chr11:73691800-73693400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:73691800-73695000	Active TSS	Colon Smooth Muscle	Colon
21	chr11:73692000-73694600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:73692000-73694600	Active TSS	Fetal Intestine Large	intestine
23	chr11:73692200-73693600	Enhancers	Fetal Brain Male	brain
24	chr11:73692200-73693800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr11:73692200-73694600	Active TSS	Primary T cells from cord blood	blood
26	chr11:73692200-73694600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr11:73692200-73694800	Active TSS	Brain Hippocampus Middle	brain
28	chr11:73692200-73695000	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr11:73692200-73695000	Active TSS	Fetal Kidney	kidney
30	chr11:73692400-73693200	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr11:73692400-73693400	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr11:73692400-73693400	Flanking Active TSS	Hela-S3	cervix
33	chr11:73692400-73694400	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr11:73692400-73694600	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr11:73692400-73694600	Active TSS	HSMM	muscle
36	chr11:73692400-73694800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:73692400-73694800	Active TSS	Small Intestine	intestine
38	chr11:73692400-73695200	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr11:73692600-73693200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:73692600-73693200	Weak transcription	Brain Substantia Nigra	brain
41	chr11:73692600-73693200	Flanking Active TSS	Pancreas	Pancrea
42	chr11:73692600-73693400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr11:73692600-73693800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr11:73692600-73693800	Active TSS	Right Atrium	heart
45	chr11:73692600-73694000	Active TSS	Liver	Liver
46	chr11:73692600-73694400	Active TSS	Fetal Lung	lung
47	chr11:73692600-73694400	Active TSS	GM12878-XiMat	blood
48	chr11:73692600-73694600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:73692600-73694600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:73692600-73694800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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