Variant report

Variant	rs826058
Chromosome Location	chr11:73796917-73796918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr11:73796614-73798110	PBDE	blood:	n/a	n/a
2	MYC	chr11:73796639-73796939	K562	blood:	n/a	n/a
3	NR2F2	chr11:73796528-73797839	K562	blood:	n/a	n/a
4	MAFF	chr11:73796500-73798006	K562	blood:	n/a	chr11:73796742-73796760
5	EP300	chr11:73796453-73798062	K562	blood:	n/a	n/a
6	ZBTB7A	chr11:73796748-73796924	K562	blood:	n/a	n/a
7	USF1	chr11:73796490-73796921	K562	blood:	n/a	n/a
8	MAFK	chr11:73796581-73796918	HepG2	liver:	n/a	chr11:73796744-73796759
9	CUX1	chr11:73796606-73798067	K562	blood:	n/a	n/a
10	TBL1XR1	chr11:73796628-73798008	K562	blood:	n/a	n/a
11	BACH1	chr11:73796597-73798009	K562	blood:	n/a	n/a
12	CTCF	chr11:73796748-73797645	K562	blood:	n/a	n/a
13	MAX	chr11:73796648-73796925	K562	blood:	n/a	n/a
14	MAX	chr11:73796619-73796933	K562	blood:	n/a	n/a
15	JUND	chr11:73796529-73797946	K562	blood:	n/a	n/a
16	POLR2A	chr11:73796569-73798248	PBDE	blood:	n/a	n/a
17	BHLHE40	chr11:73796488-73796935	K562	blood:	n/a	n/a
18	RCOR1	chr11:73796572-73797950	K562	blood:	n/a	n/a
19	MAFK	chr11:73796486-73796992	K562	blood:	n/a	chr11:73796744-73796759
20	MAFF	chr11:73796559-73796917	HepG2	liver:	n/a	chr11:73796742-73796760
21	TEAD4	chr11:73796413-73798140	K562	blood:	n/a	n/a

No data

(count:4 , 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	chr11:73759873..73761447-chr11:73795987..73798822,2	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: 4 )

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];0.85[GIH][hapmap];0.87[JPT][hapmap];0.88[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];0.85[GIH][hapmap];0.80[JPT][hapmap];0.88[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];0.85[GIH][hapmap];0.88[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];0.94[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.90[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]
rs826057	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs826058	MRPL48	cis	cerebellum	SCAN
rs826058	PPME1	cis	cerebellum	SCAN
rs826058	UCP2	Cis_1M	lymphoblastoid	RTeQTL
rs826058	C2CD3	cis	parietal	SCAN

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	chr11:73785600-73797400	Weak transcription	HUVEC	blood vessel
12	chr11:73785600-73800200	Weak transcription	NH-A	brain
13	chr11:73785600-73803400	Weak transcription	NHDF-Ad	bronchial
14	chr11:73785600-73823600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:73787800-73811400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:73789400-73800800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:73789600-73798600	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:73789600-73799400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:73789600-73799400	Weak transcription	Osteobl	bone
20	chr11:73789600-73800600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:73789800-73797000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:73789800-73800600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:73789800-73800600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:73789800-73801000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:73790000-73800600	Weak transcription	Esophagus	oesophagus
26	chr11:73790200-73800400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:73792800-73797600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:73793800-73800600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:73794600-73823600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:73794800-73799000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr11:73794800-73799600	Strong transcription	Thymus	Thymus
32	chr11:73794800-73800600	Strong transcription	Fetal Thymus	thymus
33	chr11:73794800-73804200	Strong transcription	Brain Angular Gyrus	brain
34	chr11:73794800-73805400	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:73794800-73806600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:73794800-73806600	Strong transcription	Fetal Lung	lung
37	chr11:73795000-73797000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:73795000-73797600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:73795000-73798000	Strong transcription	Brain Substantia Nigra	brain
40	chr11:73795000-73798200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:73795000-73798400	Strong transcription	Brain Cingulate Gyrus	brain
42	chr11:73795000-73806000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:73795000-73806000	Strong transcription	Brain Anterior Caudate	brain
44	chr11:73795000-73806400	Strong transcription	Adipose Nuclei	Adipose
45	chr11:73795000-73806600	Strong transcription	Fetal Muscle Leg	muscle
46	chr11:73795000-73808600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:73795000-73817400	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr11:73795000-73817600	Strong transcription	Primary B cells from cord blood	blood
49	chr11:73795200-73797200	Strong transcription	Lung	lung
50	chr11:73795200-73797600	Strong transcription	Skeletal Muscle Female	skeletal muscle

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