Variant report

Variant	rs747526
Chromosome Location	chr11:65776071-65776072
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr11:65775909-65776091	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr11:65775734-65776456	GM12891	blood:	n/a	n/a
3	MAX	chr11:65775519-65776483	ECC-1	luminal epithelium:	n/a	chr11:65775875-65775884
4	MAX	chr11:65775780-65776449	ECC-1	luminal epithelium:	n/a	chr11:65775875-65775884
5	POLR2A	chr11:65775806-65776703	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:65772803-65776533	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:65775850-65776458	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65769812..65778104-chr11:65786537..65794453,15	K562	blood:
2	chr1:152007812..152009419-chr11:65774056..65776325,2	MCF-7	breast:
3	chr11:65764589..65766874-chr11:65774811..65776588,2	K562	blood:
4	chr11:65728544..65730713-chr11:65775327..65777524,2	K562	blood:
5	chr11:65682118..65684018-chr11:65775122..65778045,2	MCF-7	breast:
6	chr11:65727829..65730713-chr11:65776024..65777968,2	K562	blood:
7	chr11:65775918..65778029-chr11:65787513..65790456,2	MCF-7	breast:
8	chr11:65774068..65777028-chr11:65792820..65794659,2	MCF-7	breast:
9	chr11:65775333..65777143-chr11:65814393..65815931,2	K562	blood:
10	chr11:65774540..65776396-chr11:65801301..65804263,2	MCF-7	breast:

No data

Variant related genes	Relation type
CST6	TF binding region
ENSG00000175294	Chromatin interaction
ENSG00000175467	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1047464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10791835	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10791837	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896070	0.86[ASN][1000 genomes]
rs10896073	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227370	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12363614	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576996	0.89[JPT][hapmap]
rs2276132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759035	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55947178	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60109456	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6591195	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7113428	0.83[EUR][1000 genomes]
rs7128076	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs735942	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs754532	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.97[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7934543	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7939253	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7939390	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7952056	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9735063	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
2	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
6	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs747526	FADS3	cis	parietal	SCAN
rs747526	EFEMP2	cis	cerebellum	SCAN
rs747526	EIF1AD	cis	parietal	SCAN
rs747526	BANF1	cis	Esophagus Mucosa	GTEx
rs747526	ESRRA	cis	parietal	SCAN
rs747526	PYGM	cis	parietal	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65771000-65779000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:65771000-65779000	Weak transcription	Aorta	Aorta
3	chr11:65771200-65779000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr11:65771200-65779200	Weak transcription	Right Atrium	heart
5	chr11:65772000-65776200	Weak transcription	Esophagus	oesophagus
6	chr11:65772000-65776600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:65772200-65776200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:65772200-65776400	Weak transcription	Brain Angular Gyrus	brain
9	chr11:65772200-65778800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:65772200-65779200	Weak transcription	Gastric	stomach
11	chr11:65772200-65779400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:65772200-65779400	Weak transcription	Psoas Muscle	Psoas
13	chr11:65772400-65778200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:65772600-65777200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr11:65772600-65778400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:65772800-65779200	Weak transcription	Right Ventricle	heart
17	chr11:65773000-65776800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:65773200-65776400	Weak transcription	Brain Substantia Nigra	brain
19	chr11:65773200-65776600	Weak transcription	Left Ventricle	heart
20	chr11:65773200-65776800	Weak transcription	NHDF-Ad	bronchial
21	chr11:65773200-65778000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:65773200-65778200	Weak transcription	NH-A	brain
23	chr11:65773200-65779000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:65773200-65779200	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:65773400-65777600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr11:65773400-65778800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:65773400-65779000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr11:65773400-65779000	Weak transcription	Brain Hippocampus Middle	brain
29	chr11:65773400-65779000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:65773400-65779000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:65773400-65779400	Weak transcription	Ovary	ovary
32	chr11:65773400-65780200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:65773600-65776400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:65773600-65776400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:65773600-65776600	Weak transcription	Fetal Kidney	kidney
36	chr11:65773600-65777000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:65773600-65777000	Weak transcription	Liver	Liver
38	chr11:65773600-65778600	Weak transcription	Brain Anterior Caudate	brain
39	chr11:65773600-65778800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr11:65773600-65778800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:65773600-65778800	Weak transcription	Osteobl	bone
42	chr11:65773600-65779200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr11:65773800-65776200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr11:65773800-65776200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr11:65773800-65777800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr11:65773800-65778800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:65773800-65779000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:65774000-65776200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr11:65774000-65777000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr11:65774000-65777200	Weak transcription	Primary B cells from cord blood	blood

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