Variant report

Variant	rs45595943
Chromosome Location	chr11:73694738-73694739
allele	A/G
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	MAFK	chr11:73694008-73695043	K562	blood:	n/a	n/a
2	EP300	chr11:73693683-73694770	GM12878	blood:	n/a	chr11:73694280-73694289 chr11:73694276-73694290 chr11:73694618-73694627
3	TAF1	chr11:73693512-73695148	MCF-7	breast:	n/a	n/a
4	POLR2A	chr11:73693424-73694898	MCF-7	breast:	n/a	n/a
5	RCOR1	chr11:73693684-73695036	Hela-S3	cervix:	n/a	n/a
6	IRF1	chr11:73693669-73694925	K562	blood:	n/a	n/a
7	POLR2A	chr11:73693599-73694987	K562	blood:	n/a	n/a
8	TBP	chr11:73693635-73695009	K562	blood:	n/a	n/a
9	MYC	chr11:73693716-73695126	K562	blood:	n/a	chr11:73694793-73694800
10	RELA	chr11:73694021-73694774	GM19099	blood:	n/a	n/a
11	USF1	chr11:73694231-73694868	A549	lung:	n/a	chr11:73694626-73694635 chr11:73694623-73694636 chr11:73694625-73694634 chr11:73694625-73694634 chr11:73694624-73694635
12	CBX3	chr11:73693585-73695066	K562	blood:	n/a	n/a
13	MAX	chr11:73693500-73695415	K562	blood:	n/a	chr11:73694793-73694800
14	NFIC	chr11:73693996-73695019	ECC-1	luminal epithelium:	n/a	n/a
15	MYC	chr11:73694113-73694787	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr11:73693632-73694762	A549	lung:	n/a	n/a
17	POLR2A	chr11:73693940-73695718	K562	blood:	n/a	n/a
18	NFYB	chr11:73694020-73694796	Hela-S3	cervix:	n/a	chr11:73694430-73694443 chr11:73694430-73694445 chr11:73694396-73694411 chr11:73694432-73694442 chr11:73694430-73694445 chr11:73694430-73694444 chr11:73694427-73694442
19	POLR2A	chr11:73693446-73694886	Hela-S3	cervix:	n/a	n/a
20	MYC	chr11:73693692-73695073	K562	blood:	n/a	chr11:73694793-73694800
21	USF1	chr11:73694239-73694847	SK-N-SH_RA	brain:	n/a	chr11:73694626-73694635 chr11:73694623-73694636 chr11:73694625-73694634 chr11:73694625-73694634 chr11:73694624-73694635
22	POLR2A	chr11:73692165-73694830	GM12892	blood:	n/a	n/a
23	MAX	chr11:73693571-73695186	HepG2	liver:	n/a	chr11:73694793-73694800
24	SIN3A	chr11:73693417-73694808	H1-hESC	embryonic stem cell:	n/a	chr11:73694649-73694662 chr11:73694357-73694368
25	POLR2A	chr11:73693576-73694911	U87	brain:	n/a	n/a
26	MAX	chr11:73692870-73695207	A549	lung:	n/a	chr11:73694793-73694800
27	NFYB	chr11:73693990-73694935	K562	blood:	n/a	chr11:73694430-73694443 chr11:73694430-73694445 chr11:73694396-73694411 chr11:73694432-73694442 chr11:73694430-73694445 chr11:73694430-73694444 chr11:73694427-73694442
28	SPI1	chr11:73693854-73695117	HL-60	blood:	n/a	chr11:73694124-73694137 chr11:73694279-73694292 chr11:73694280-73694289 chr11:73694281-73694288 chr11:73694278-73694291
29	ELF1	chr11:73694101-73694857	HepG2	liver:	n/a	chr11:73694615-73694627 chr11:73694638-73694650 chr11:73694280-73694291
30	SRF	chr11:73693741-73695017	MCF-7	breast:	n/a	chr11:73694643-73694653 chr11:73694915-73694929
31	POLR2A	chr11:73693595-73694956	GM18505	blood:	n/a	n/a
32	MYC	chr11:73693661-73695348	K562	blood:	n/a	chr11:73694793-73694800
33	USF2	chr11:73694428-73694823	HepG2	liver:	n/a	chr11:73694626-73694635 chr11:73694624-73694635 chr11:73694623-73694636 chr11:73694625-73694634 chr11:73694625-73694634
34	USF2	chr11:73693840-73694871	GM12878	blood:	n/a	chr11:73693897-73693913 chr11:73694626-73694635 chr11:73694624-73694635 chr11:73694623-73694636 chr11:73694625-73694634 chr11:73693896-73693912 chr11:73694625-73694634
35	CREB1	chr11:73693636-73694849	A549	lung:	n/a	n/a
36	ELF1	chr11:73693475-73695065	GM12878	blood:	n/a	chr11:73694615-73694627 chr11:73694638-73694650 chr11:73694280-73694291 chr11:73693902-73693911
37	MXI1	chr11:73693655-73694969	K562	blood:	n/a	n/a
38	POLR2A	chr11:73693953-73694899	HepG2	liver:	n/a	n/a
39	SIN3AK20	chr11:73694391-73694808	A549	lung:	n/a	n/a
40	BHLHE40	chr11:73693605-73694976	GM12878	blood:	n/a	chr11:73693897-73693913 chr11:73694626-73694635 chr11:73694623-73694636 chr11:73694625-73694634 chr11:73693896-73693912 chr11:73694625-73694634
41	E2F6	chr11:73693612-73695266	K562	blood:	n/a	chr11:73693859-73693873 chr11:73694561-73694573 chr11:73693905-73693914
42	ELF1	chr11:73693936-73694783	GM12878	blood:	n/a	chr11:73694615-73694627 chr11:73694638-73694650 chr11:73694280-73694291
43	BHLHE40	chr11:73694135-73695035	HepG2	liver:	n/a	chr11:73694626-73694635 chr11:73694623-73694636 chr11:73694625-73694634 chr11:73694625-73694634
44	POLR2A	chr11:73693606-73694843	HCT-116	colon:	n/a	n/a
45	POLR2A	chr11:73693530-73694973	HUVEC	blood vessel:	n/a	n/a
46	USF1	chr11:73694040-73694944	K562	blood:	n/a	chr11:73694626-73694635 chr11:73694623-73694636 chr11:73694625-73694634 chr11:73694625-73694634 chr11:73694624-73694635
47	ATF3	chr11:73694139-73694818	K562	blood:	n/a	chr11:73694625-73694645
48	MAX	chr11:73693679-73694969	HepG2	liver:	n/a	chr11:73694793-73694800
49	POLR2A	chr11:73693610-73694805	GM12878	blood:	n/a	n/a
50	POLR2A	chr11:73693647-73694875	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73694676..73695224-chr17:8338627..8339302,2	Hela-S3	cervix:
2	chr11:73692800..73696318-chr11:73880815..73883748,5	MCF-7	breast:
3	chr11:73691904..73697409-chr11:73796369..73799985,7	K562	blood:
4	chr11:73691320..73695538-chr11:73704392..73710067,8	MCF-7	breast:
5	chr1:157101037..157101856-chr11:73694383..73695048,2	Hela-S3	cervix:
6	chr11:73693160..73695633-chr11:73711332..73713417,2	K562	blood:
7	chr10:70883197..70884174-chr11:73694346..73694911,2	NB4	blood:
8	chr11:73693159..73695424-chr11:73716966..73719233,2	MCF-7	breast:
9	chr11:73691455..73695821-chr11:73881160..73884452,10	K562	blood:
10	chr11:73693723..73696564-chr11:73880690..73883464,7	K562	blood:
11	chr11:73692520..73695585-chr11:73801085..73803833,3	MCF-7	breast:
12	chr11:73691101..73695528-chr11:73777647..73786599,14	MCF-7	breast:
13	chr11:73692887..73694821-chr11:73796088..73798230,2	MCF-7	breast:
14	chr11:73693782..73695320-chr11:73743526..73745604,2	MCF-7	breast:
15	chr11:73692678..73695547-chr11:74458881..74460384,2	K562	blood:
16	chr11:73694419..73695103-chr12:104359525..104360478,2	NB4	blood:
17	chr11:73690232..73696227-chr11:73800984..73805427,5	MCF-7	breast:
18	chr11:73691754..73696567-chr11:73778152..73784121,11	MCF-7	breast:
19	chr11:73690208..73697157-chr11:73720249..73724103,9	K562	blood:
20	chr11:73694022..73695981-chr11:73881444..73883965,2	MCF-7	breast:

Variant related genes	Relation type
UCP2	TF binding region
ENSG00000166579	Chromatin interaction
ENSG00000175564	Chromatin interaction
ENSG00000256723	Chromatin interaction
ENSG00000214517	Chromatin interaction
ENSG00000122958	Chromatin interaction
ENSG00000166439	Chromatin interaction
ENSG00000168014	Chromatin interaction
ENSG00000139372	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11549045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132534	0.95[EUR][1000 genomes]
rs2632725	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2735572	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs45467092	0.98[EUR][1000 genomes]
rs45523540	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45529235	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs45566236	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs760206	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs760207	1.00[AMR][1000 genomes];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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73691800-73695000	Active TSS	Colon Smooth Muscle	Colon
2	chr11:73692200-73694800	Active TSS	Brain Hippocampus Middle	brain
3	chr11:73692200-73695000	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr11:73692200-73695000	Active TSS	Fetal Kidney	kidney
5	chr11:73692400-73694800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:73692400-73694800	Active TSS	Small Intestine	intestine
7	chr11:73692400-73695200	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr11:73692600-73694800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:73692600-73694800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:73692600-73694800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr11:73692600-73694800	Active TSS	HSMMtube	muscle
12	chr11:73692600-73695000	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr11:73692600-73695000	Active TSS	Esophagus	oesophagus
14	chr11:73692800-73694800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr11:73692800-73694800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:73692800-73694800	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr11:73692800-73694800	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr11:73692800-73694800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:73692800-73695000	Active TSS	H9 Cell Line	embryonic stem cell
20	chr11:73693000-73694800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:73693000-73694800	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr11:73693000-73694800	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr11:73693000-73694800	Active TSS	Rectal Smooth Muscle	rectum
24	chr11:73693000-73695000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr11:73693000-73695000	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr11:73693000-73695000	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr11:73693000-73695400	Active TSS	Fetal Brain Female	brain
28	chr11:73693000-73695400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr11:73693000-73695400	Active TSS	Thymus	Thymus
30	chr11:73693200-73694800	Active TSS	Fetal Heart	heart
31	chr11:73693200-73694800	Active TSS	Stomach Mucosa	stomach
32	chr11:73693200-73695000	Active TSS	Psoas Muscle	Psoas
33	chr11:73693200-73695200	Active TSS	Brain Anterior Caudate	brain
34	chr11:73693200-73695200	Active TSS	Brain Substantia Nigra	brain
35	chr11:73693400-73694800	Active TSS	Brain Angular Gyrus	brain
36	chr11:73693400-73694800	Active TSS	Brain Cingulate Gyrus	brain
37	chr11:73693600-73694800	Active TSS	Ovary	ovary
38	chr11:73693600-73694800	Flanking Active TSS	Pancreas	Pancrea
39	chr11:73693600-73695200	Active TSS	Aorta	Aorta
40	chr11:73693800-73694800	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr11:73693800-73694800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:73694000-73694800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:73694000-73694800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:73694000-73694800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
45	chr11:73694000-73694800	Flanking Active TSS	HMEC	breast
46	chr11:73694000-73695000	Flanking Active TSS	Liver	Liver
47	chr11:73694000-73695000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr11:73694000-73695000	Flanking Active TSS	HUVEC	blood vessel
49	chr11:73694000-73695000	Flanking Active TSS	NH-A	brain
50	chr11:73694200-73694800	Flanking Active TSS	Lung	lung

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