Variant report

Variant	rs826081
Chromosome Location	chr11:73722509-73722510
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:90)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:90 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr11:73722413-73723002	K562	blood:	n/a	n/a
2	GTF3C2	chr11:73722490-73723085	K562	blood:	n/a	n/a
3	RCOR1	chr11:73722458-73723074	K562	blood:	n/a	n/a
4	GATA2	chr11:73722497-73723083	K562	blood:	n/a	n/a
5	GATA2	chr11:73722386-73723080	K562	blood:	n/a	n/a
6	ETS1	chr11:73722471-73723015	K562	blood:	n/a	n/a
7	SIN3AK20	chr11:73722454-73722851	K562	blood:	n/a	n/a
8	YY1	chr11:73722480-73722980	K562	blood:	n/a	n/a
9	BHLHE40	chr11:73722318-73723081	K562	blood:	n/a	n/a
10	E2F6	chr11:73722333-73723124	K562	blood:	n/a	n/a
11	TEAD4	chr11:73722260-73723284	K562	blood:	n/a	n/a
12	TBL1XR1	chr11:73722097-73723063	K562	blood:	n/a	n/a
13	HCFC1	chr11:73722452-73722994	K562	blood:	n/a	n/a
14	E2F6	chr11:73721038-73723104	K562	blood:	n/a	n/a
15	ZNF143	chr11:73722097-73723105	K562	blood:	n/a	chr11:73722268-73722278
16	TEAD4	chr11:73722356-73723193	K562	blood:	n/a	n/a
17	NR2F2	chr11:73722185-73723279	K562	blood:	n/a	n/a
18	IRF1	chr11:73722247-73722942	K562	blood:	n/a	chr11:73722368-73722377
19	TAL1	chr11:73722116-73723171	K562	blood:	n/a	n/a
20	HDAC2	chr11:73722427-73723000	K562	blood:	n/a	n/a
21	GATA1	chr11:73722386-73723024	PBDEFetal	blood:	n/a	n/a
22	PML	chr11:73722415-73723137	K562	blood:	n/a	n/a
23	CCNT2	chr11:73722373-73723018	K562	blood:	n/a	n/a
24	CBX3	chr11:73722312-73723202	K562	blood:	n/a	n/a
25	CEBPB	chr11:73722380-73723124	K562	blood:	n/a	chr11:73723033-73723045
26	POLR2A	chr11:73721846-73722648	A549	lung:	n/a	n/a
27	SMARCA4	chr11:73722438-73723244	K562	blood:	n/a	n/a
28	MYC	chr11:73722403-73723145	K562	blood:	n/a	chr11:73722924-73722939
29	POLR2A	chr11:73722295-73722998	K562	blood:	n/a	n/a
30	TBL1XR1	chr11:73722327-73723135	K562	blood:	n/a	n/a
31	GATA1	chr11:73721471-73723305	K562	blood:	n/a	n/a
32	POLR2A	chr11:73722137-73723067	K562	blood:	n/a	n/a
33	CUX1	chr11:73722501-73723087	K562	blood:	n/a	n/a
34	BCLAF1	chr11:73722364-73723126	K562	blood:	n/a	n/a
35	ZMIZ1	chr11:73722113-73723050	K562	blood:	n/a	n/a
36	MTA3	chr11:73722382-73723284	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:73721038-73723038	K562	blood:	n/a	n/a
38	TRIM28	chr11:73722431-73723142	K562	blood:	n/a	n/a
39	PML	chr11:73722392-73723091	K562	blood:	n/a	n/a
40	CEBPD	chr11:73722470-73723105	K562	blood:	n/a	n/a
41	TAF1	chr11:73722473-73722931	K562	blood:	n/a	n/a
42	GABPA	chr11:73722455-73723062	K562	blood:	n/a	n/a
43	CTCF	chr11:73722397-73722884	K562	blood:	n/a	n/a
44	GATA2	chr11:73722486-73723088	K562	blood:	n/a	n/a
45	GABPA	chr11:73722506-73722941	K562	blood:	n/a	n/a
46	STAT5A	chr11:73722322-73723077	K562	blood:	n/a	chr11:73722569-73722581 chr11:73722829-73722837 chr11:73722439-73722451
47	MYC	chr11:73722481-73723138	K562	blood:	n/a	chr11:73722924-73722939
48	POLR2A	chr11:73722403-73722983	K562	blood:	n/a	n/a
49	HEY1	chr11:73722465-73722683	K562	blood:	n/a	n/a
50	JUN	chr11:73722039-73723317	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73721341..73724009-chr11:73846427..73849046,2	K562	blood:
2	chr11:73692930..73695834-chr11:73720548..73723586,4	K562	blood:
3	chr11:73721651..73724369-chr11:73796364..73798906,2	K562	blood:
4	chr11:73721549..73725219-chr11:73728115..73731399,4	MCF-7	breast:
5	chr11:73690208..73697157-chr11:73720249..73724103,9	K562	blood:
6	chr11:73721505..73724045-chr11:73730845..73732782,2	MCF-7	breast:

No data

Variant related genes	Relation type
UCP3	TF binding region
ENSG00000175567	Chromatin interaction
ENSG00000168014	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10219224	1.00[CEU][hapmap]
rs10501413	1.00[CEU][hapmap]
rs10501414	1.00[CEU][hapmap]
rs1095427	0.89[AMR][1000 genomes]
rs11235973	1.00[CEU][hapmap]
rs11235982	1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs11235989	0.89[AMR][1000 genomes]
rs11825062	0.89[AMR][1000 genomes]
rs12277532	0.89[AMR][1000 genomes]
rs12280063	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs12286033	1.00[CEU][hapmap]
rs12291461	1.00[GIH][hapmap]
rs1618727	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs1685333	0.92[MKK][hapmap]
rs1685340	1.00[CEU][hapmap]
rs1685343	1.00[GIH][hapmap]
rs17132567	1.00[CEU][hapmap]
rs17132610	1.00[CEU][hapmap]
rs17132617	1.00[CEU][hapmap]
rs17132620	1.00[CEU][hapmap]
rs17132629	1.00[CEU][hapmap]
rs17132632	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17132796	1.00[CEU][hapmap]
rs17132801	1.00[CEU][hapmap]
rs17132816	1.00[CEU][hapmap]
rs17132818	1.00[CEU][hapmap]
rs17132826	1.00[CEU][hapmap]
rs17132836	1.00[CEU][hapmap]
rs17132837	1.00[CEU][hapmap]
rs1726759	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs1726760	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs1726761	1.00[GIH][hapmap]
rs1790393	1.00[GIH][hapmap]
rs6592549	1.00[CEU][hapmap]
rs7106817	1.00[CEU][hapmap]
rs7110062	1.00[CEU][hapmap]
rs7113898	1.00[CEU][hapmap]
rs7117091	1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs7117831	1.00[MEX][hapmap]
rs7120494	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs7126381	1.00[CEU][hapmap]
rs7127358	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs7129659	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs7129774	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs7130095	1.00[MEX][hapmap]
rs73552741	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs73552745	0.83[AMR][1000 genomes]
rs826042	0.89[AMR][1000 genomes]
rs826047	1.00[GIH][hapmap]
rs826048	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs826051	0.89[AMR][1000 genomes]
rs826063	1.00[GIH][hapmap]
rs826065	1.00[GIH][hapmap]
rs826071	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs826072	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs826073	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs826075	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs826079	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs826082	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs826085	0.89[AMR][1000 genomes]
rs826086	1.00[GIH][hapmap]
rs826087	0.89[AMR][1000 genomes]
rs826088	1.00[GIH][hapmap]
rs826089	0.84[AMR][1000 genomes]
rs826091	1.00[GIH][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73708800-73729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:73709000-73724200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:73710200-73728400	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:73710600-73741800	Weak transcription	Fetal Kidney	kidney
5	chr11:73710600-73748800	Weak transcription	Fetal Brain Male	brain
6	chr11:73711000-73729200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:73711800-73729200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:73712200-73726800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:73712200-73743600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:73712200-73743800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:73712800-73743400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:73713600-73725000	Weak transcription	A549	lung
13	chr11:73714000-73726000	Weak transcription	Esophagus	oesophagus
14	chr11:73714200-73729800	Weak transcription	Hela-S3	cervix
15	chr11:73714600-73727200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:73714800-73724000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:73715000-73729800	Weak transcription	Ovary	ovary
18	chr11:73715200-73722600	Weak transcription	NHLF	lung
19	chr11:73715200-73722800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:73715200-73727200	Weak transcription	Fetal Lung	lung
21	chr11:73715200-73727400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:73715400-73722600	Weak transcription	HSMMtube	muscle
23	chr11:73715400-73727400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:73716000-73723400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr11:73716200-73722600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:73716200-73722800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:73716200-73723400	Weak transcription	Gastric	stomach
28	chr11:73716200-73727600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:73716400-73723600	Weak transcription	Brain Substantia Nigra	brain
30	chr11:73716400-73728000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr11:73716600-73723400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:73716600-73727400	Weak transcription	Brain Angular Gyrus	brain
33	chr11:73716800-73723600	Weak transcription	Aorta	Aorta
34	chr11:73716800-73726400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr11:73716800-73727600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr11:73717000-73723000	Enhancers	Primary T cells from cord blood	blood
37	chr11:73717000-73727600	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr11:73718200-73724200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr11:73718400-73724200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:73718600-73728800	Weak transcription	Liver	Liver
41	chr11:73718800-73723000	Enhancers	Right Ventricle	heart
42	chr11:73719200-73723000	Enhancers	Fetal Heart	heart
43	chr11:73719400-73724000	Enhancers	Primary B cells from peripheral blood	blood
44	chr11:73719400-73724200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:73719600-73723200	Enhancers	Duodenum Mucosa	Duodenum
46	chr11:73720000-73743400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr11:73720200-73723200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr11:73720200-73724000	Weak transcription	Dnd41	blood
49	chr11:73720200-73725800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr11:73720400-73723200	Enhancers	Skeletal Muscle Female	skeletal muscle

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