Variant report

Variant	rs45566236
Chromosome Location	chr11:73692417-73692418
allele	C/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	POLR2A	chr11:73692276-73693259	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:73692165-73694830	GM12892	blood:	n/a	n/a
3	WRNIP1	chr11:73690922-73692874	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:73692325-73694919	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr11:73690723-73695117	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:73690936-73695497	HL-60	blood:	n/a	n/a
7	RUNX3	chr11:73692256-73692806	GM12878	blood:	n/a	n/a
8	YY1	chr11:73692322-73692656	GM12878	blood:	n/a	n/a
9	RUNX3	chr11:73692105-73692648	GM12878	blood:	n/a	n/a
10	NR2F2	chr11:73690799-73692561	K562	blood:	n/a	n/a
11	POLR2A	chr11:73692194-73692510	GM12878	blood:	n/a	n/a
12	CHD1	chr11:73690986-73692950	GM12878	blood:	n/a	n/a
13	RELA	chr11:73690964-73692956	GM19099	blood:	n/a	n/a
14	POLR2A	chr11:73678522-73695046	PBDE	blood:	n/a	n/a
15	MXI1	chr11:73692255-73692428	GM12878	blood:	n/a	n/a
16	EBF1	chr11:73692343-73692523	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:73690795-73694906	GM12892	blood:	n/a	n/a
18	RCOR1	chr11:73692269-73692984	GM12878	blood:	n/a	n/a
19	MTA3	chr11:73692250-73692900	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:73690873-73693286	GM18505	blood:	n/a	n/a
21	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
22	MAX	chr11:73692086-73692492	K562	blood:	n/a	n/a
23	POLR2A	chr11:73687423-73695032	GM12891	blood:	n/a	n/a
24	POLR2A	chr11:73690892-73693113	GM12878	blood:	n/a	n/a
25	RCOR1	chr11:73692332-73692433	K562	blood:	n/a	n/a
26	POLR2A	chr11:73690745-73693042	K562	blood:	n/a	n/a
27	POLR2A	chr11:73688951-73694645	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:73692322-73695453	Raji	blood:	n/a	n/a
29	SMARCB1	chr11:73692385-73695065	Hela-S3	cervix:	n/a	n/a
30	MTA3	chr11:73690563-73695143	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:73690890-73694865	GM19193	blood:	n/a	n/a
32	BCLAF1	chr11:73692125-73693040	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:73692125-73692463	K562	blood:	n/a	n/a
34	NFIC	chr11:73691816-73693143	GM12878	blood:	n/a	chr11:73693008-73693025
35	POLR2A	chr11:73688307-73693000	GM12892	blood:	n/a	n/a
36	POLR2A	chr11:73690940-73693167	GM18951	blood:	n/a	n/a
37	TBL1XR1	chr11:73692309-73692462	K562	blood:	n/a	n/a
38	JUN	chr11:73692124-73695090	K562	blood:	n/a	chr11:73694560-73694569 chr11:73694434-73694443 chr11:73692450-73692462
39	POLR2A	chr11:73690740-73693307	GM12878	blood:	n/a	n/a
40	UBTF	chr11:73692334-73695402	K562	blood:	n/a	n/a
41	TBP	chr11:73692341-73692559	GM12878	blood:	n/a	n/a
42	STAT5A	chr11:73690879-73693336	GM12878	blood:	n/a	chr11:73691580-73691592 chr11:73691022-73691033 chr11:73693119-73693131 chr11:73692846-73692858

No.	Distal block	Cell Line	Cell type
1	chr11:73692359..73693859-chr11:73914650..73916719,2	K562	blood:
2	chr11:73586614..73588298-chr11:73691679..73694031,2	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	chr11:73691455..73695821-chr11:73881160..73884452,10	K562	blood:
6	chr11:73661884..73663494-chr11:73691354..73693894,2	MCF-7	breast:
7	chr11:73691101..73695528-chr11:73777647..73786599,14	MCF-7	breast:
8	chr11:73584965..73587189-chr11:73691735..73694698,2	K562	blood:
9	chr11:73690232..73696227-chr11:73800984..73805427,5	MCF-7	breast:
10	chr11:73692196..73693796-chr11:73888424..73890180,2	MCF-7	breast:
11	chr11:73691754..73696567-chr11:73778152..73784121,11	MCF-7	breast:
12	chr11:73690208..73697157-chr11:73720249..73724103,9	K562	blood:

Variant related genes	Relation type
UCP2	TF binding region
ENSG00000214517	Chromatin interaction
ENSG00000168014	Chromatin interaction
ENSG00000256723	Chromatin interaction
ENSG00000181924	Chromatin interaction
ENSG00000187726	Chromatin interaction
ENSG00000175575	Chromatin interaction
ENSG00000175564	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	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132534	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2632725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2735572	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs45467092	0.98[EUR][1000 genomes]
rs45523540	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45529235	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs45595943	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs760206	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs760207	0.85[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: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	chr11:73675400-73692600	Weak transcription	Psoas Muscle	Psoas
3	chr11:73676400-73693200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:73684800-73692600	Weak transcription	Right Atrium	heart
5	chr11:73685000-73693000	Weak transcription	NHDF-Ad	bronchial
6	chr11:73685600-73693000	Weak transcription	NHLF	lung
7	chr11:73686600-73693000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:73687000-73693000	Weak transcription	NH-A	brain
9	chr11:73687200-73693000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:73688000-73693400	Weak transcription	Brain Angular Gyrus	brain
11	chr11:73688000-73693800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
12	chr11:73688400-73694400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
13	chr11:73689000-73692800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
14	chr11:73689200-73692600	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
15	chr11:73689200-73692600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
16	chr11:73689200-73692600	Weak transcription	Liver	Liver
17	chr11:73689200-73692800	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:73689400-73693200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:73689600-73692600	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
20	chr11:73689600-73693000	Weak transcription	Right Ventricle	heart
21	chr11:73689800-73692800	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:73689800-73692800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
23	chr11:73690000-73693000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
24	chr11:73690200-73692600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr11:73690200-73693400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:73690600-73692800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:73690800-73692600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr11:73690800-73692600	Enhancers	Pancreas	Pancrea
29	chr11:73690800-73692800	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
30	chr11:73690800-73692800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
31	chr11:73690800-73692800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:73690800-73692800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:73690800-73692800	Transcr. at gene 5' and 3'	K562	blood
34	chr11:73690800-73693200	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
35	chr11:73690800-73693200	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr11:73690800-73693800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr11:73691000-73692600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:73691000-73692600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:73691000-73692600	Genic enhancers	Gastric	stomach
40	chr11:73691000-73692800	Enhancers	Fetal Heart	heart
41	chr11:73691000-73692800	Genic enhancers	HepG2	liver
42	chr11:73691000-73693800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr11:73691200-73692600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:73691200-73692600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:73691200-73692600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
46	chr11:73691200-73692800	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
47	chr11:73691200-73693200	Transcr. at gene 5' and 3'	Dnd41	blood
48	chr11:73691200-73693600	Weak transcription	Aorta	Aorta
49	chr11:73691400-73692600	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:73691400-73692600	Flanking Active TSS	HSMMtube	muscle

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