Variant report

Variant	rs826057
Chromosome Location	chr11:73797520-73797521
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr11:73797054-73797962	K562	blood:	n/a	n/a
2	IRF1	chr11:73797163-73797884	K562	blood:	n/a	chr11:73797557-73797578
3	TRIM28	chr11:73797050-73797939	K562	blood:	n/a	n/a
4	JUN	chr11:73797481-73797952	K562	blood:	n/a	n/a
5	MAX	chr11:73797185-73797891	K562	blood:	n/a	n/a
6	GATA1	chr11:73796614-73798110	PBDE	blood:	n/a	n/a
7	GATA2	chr11:73797089-73797958	K562	blood:	n/a	n/a
8	GATA3	chr11:73797277-73797985	MCF-7	breast:	n/a	n/a
9	CCNT2	chr11:73797187-73797893	K562	blood:	n/a	n/a
10	ATF1	chr11:73797267-73797861	K562	blood:	n/a	n/a
11	GABPA	chr11:73797177-73797838	K562	blood:	n/a	n/a
12	GATA3	chr11:73797300-73797807	MCF-7	breast:	n/a	n/a
13	TCF7L2	chr11:73797454-73797861	MCF-7	breast:	n/a	n/a
14	NR2F2	chr11:73796528-73797839	K562	blood:	n/a	n/a
15	MAZ	chr11:73797155-73798048	K562	blood:	n/a	n/a
16	SIN3AK20	chr11:73797282-73798037	MCF-7	breast:	n/a	n/a
17	CEBPB	chr11:73797310-73797931	K562	blood:	n/a	n/a
18	MAFF	chr11:73796500-73798006	K562	blood:	n/a	chr11:73796742-73796760
19	MAFK	chr11:73797208-73798000	K562	blood:	n/a	n/a
20	EP300	chr11:73796453-73798062	K562	blood:	n/a	n/a
21	PML	chr11:73797095-73797968	K562	blood:	n/a	n/a
22	GATA3	chr11:73797484-73797759	MCF-7	breast:	n/a	n/a
23	HDAC2	chr11:73797365-73797863	MCF-7	breast:	n/a	n/a
24	CEBPB	chr11:73797208-73797789	K562	blood:	n/a	n/a
25	RCOR1	chr11:73797056-73797899	K562	blood:	n/a	n/a
26	TEAD4	chr11:73797078-73797954	K562	blood:	n/a	n/a
27	MYC	chr11:73797262-73798013	K562	blood:	n/a	n/a
28	HDAC2	chr11:73797193-73797722	K562	blood:	n/a	n/a
29	CUX1	chr11:73796606-73798067	K562	blood:	n/a	n/a
30	ARID3A	chr11:73797087-73797908	K562	blood:	n/a	n/a
31	TBP	chr11:73797385-73797934	K562	blood:	n/a	n/a
32	CEBPD	chr11:73797086-73798017	K562	blood:	n/a	n/a
33	TBL1XR1	chr11:73796628-73798008	K562	blood:	n/a	n/a
34	TBL1XR1	chr11:73797161-73797874	K562	blood:	n/a	n/a
35	ZC3H11A	chr11:73797309-73797872	K562	blood:	n/a	n/a
36	TAL1	chr11:73797091-73798010	K562	blood:	n/a	n/a
37	BACH1	chr11:73796597-73798009	K562	blood:	n/a	n/a
38	CTCF	chr11:73796748-73797645	K562	blood:	n/a	n/a
39	POLR2A	chr11:73797222-73797825	K562	blood:	n/a	n/a
40	STAT5A	chr11:73797096-73797926	K562	blood:	n/a	n/a
41	CBX3	chr11:73797068-73797947	K562	blood:	n/a	n/a
42	BHLHE40	chr11:73797142-73797856	K562	blood:	n/a	n/a
43	ZMIZ1	chr11:73797043-73797893	K562	blood:	n/a	n/a
44	MXI1	chr11:73797099-73798002	K562	blood:	n/a	n/a
45	GATA2	chr11:73797139-73797842	K562	blood:	n/a	n/a
46	UBTF	chr11:73797100-73797889	K562	blood:	n/a	n/a
47	GATA2	chr11:73797141-73797898	K562	blood:	n/a	n/a
48	POLR2A	chr11:73797134-73797927	K562	blood:	n/a	n/a
49	POLR2A	chr11:73797451-73797583	K562	blood:	n/a	n/a
50	NR2F2	chr11:73797140-73797871	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:73691904..73697409-chr11:73796369..73799985,7	K562	blood:
2	chr11:73692980..73694641-chr11:73795807..73797869,2	K562	blood:
3	chr11:73692887..73694821-chr11:73796088..73798230,2	MCF-7	breast:
4	chr11:73778180..73781840-chr11:73797440..73801034,4	MCF-7	breast:
5	chr11:73759873..73761447-chr11:73795987..73798822,2	K562	blood:
6	chr11:73797028..73798619-chr11:73800581..73803364,2	K562	blood:

No data

Variant related genes	Relation type
C2CD3	TF binding region
ENSG00000168014	Chromatin interaction
ENSG00000175567	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11235995	0.81[YRI][hapmap]
rs11236004	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11236006	0.83[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap]
rs11236008	0.83[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.90[MEX][hapmap];0.81[ASN][1000 genomes]
rs11236028	0.88[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.90[TSI][hapmap]
rs11825568	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11825974	0.90[ASN][1000 genomes]
rs12574039	0.81[YRI][hapmap]
rs12574047	0.81[YRI][hapmap]
rs12574556	0.81[YRI][hapmap]
rs15763	0.80[JPT][hapmap]
rs1626521	0.83[CEU][hapmap];0.80[JPT][hapmap]
rs1685354	0.80[JPT][hapmap]
rs1790400	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2632723	0.80[JPT][hapmap]
rs2734827	0.80[JPT][hapmap]
rs2848557	0.88[CEU][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];0.80[JPT][hapmap];0.90[TSI][hapmap]
rs4944880	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs530699	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs555964	0.88[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];0.90[TSI][hapmap]
rs562488	0.81[CHB][hapmap]
rs60647229	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs699142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7125032	0.81[YRI][hapmap]
rs7925988	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs826054	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.92[TSI][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs826055	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs826058	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][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];1.00[ASN][1000 genomes]
rs866650	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs869616	0.83[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.87[JPT][hapmap];0.85[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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs826057	MRPL48	cis	cerebellum	SCAN
rs826057	PPME1	cis	cerebellum	SCAN
rs826057	UCP2	cis	multi-tissue	Pritchard
rs826057	C2CD3	cis	parietal	SCAN
rs826057	UCP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73730800-73800800	Weak transcription	Fetal Heart	heart
2	chr11:73750800-73800400	Weak transcription	HMEC	breast
3	chr11:73753200-73804600	Weak transcription	Colonic Mucosa	Colon
4	chr11:73760000-73802600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr11:73768800-73798200	Weak transcription	NHEK	skin
6	chr11:73777600-73818600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:73781800-73849200	Weak transcription	Stomach Mucosa	stomach
8	chr11:73782600-73823800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:73784200-73801000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:73785400-73800400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:73785600-73800200	Weak transcription	NH-A	brain
12	chr11:73785600-73803400	Weak transcription	NHDF-Ad	bronchial
13	chr11:73785600-73823600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:73787800-73811400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:73789400-73800800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:73789600-73798600	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:73789600-73799400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:73789600-73799400	Weak transcription	Osteobl	bone
19	chr11:73789600-73800600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:73789800-73800600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:73789800-73800600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:73789800-73801000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:73790000-73800600	Weak transcription	Esophagus	oesophagus
24	chr11:73790200-73800400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr11:73792800-73797600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:73793800-73800600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:73794600-73823600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:73794800-73799000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:73794800-73799600	Strong transcription	Thymus	Thymus
30	chr11:73794800-73800600	Strong transcription	Fetal Thymus	thymus
31	chr11:73794800-73804200	Strong transcription	Brain Angular Gyrus	brain
32	chr11:73794800-73805400	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:73794800-73806600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:73794800-73806600	Strong transcription	Fetal Lung	lung
35	chr11:73795000-73797600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:73795000-73798000	Strong transcription	Brain Substantia Nigra	brain
37	chr11:73795000-73798200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:73795000-73798400	Strong transcription	Brain Cingulate Gyrus	brain
39	chr11:73795000-73806000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:73795000-73806000	Strong transcription	Brain Anterior Caudate	brain
41	chr11:73795000-73806400	Strong transcription	Adipose Nuclei	Adipose
42	chr11:73795000-73806600	Strong transcription	Fetal Muscle Leg	muscle
43	chr11:73795000-73808600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr11:73795000-73817400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:73795000-73817600	Strong transcription	Primary B cells from cord blood	blood
46	chr11:73795200-73797600	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:73795200-73797800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr11:73795200-73798200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:73795200-73798200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:73795200-73798200	Strong transcription	Brain Germinal Matrix	brain

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