Variant report

Variant	rs17126110
Chromosome Location	chr11:121978798-121978799
allele	A/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	chr11:121978627-121979182	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr11:121978680-121978830	GM12871	blood:	n/a	n/a
3	POLR2A	chr11:121953786-121984536	U87	brain:	n/a	n/a
4	POLR2A	chr11:121955710-121982592	U87	brain:	n/a	n/a
5	SMC3	chr11:121978641-121979444	SK-N-SH	brain:	n/a	chr11:121979100-121979114
6	POLR2A	chr11:121978790-121978992	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr11:121955714-121984542	U87	brain:	n/a	n/a
8	RAD21	chr11:121978772-121979341	A549	lung:	n/a	chr11:121979104-121979116 chr11:121979099-121979118
9	CTCF	chr11:121978691-121979507	A549	lung:	n/a	chr11:121979098-121979116 chr11:121979099-121979115 chr11:121979101-121979114 chr11:121979100-121979121
10	RAD21	chr11:121978667-121979423	SK-N-SH	brain:	n/a	chr11:121979104-121979116 chr11:121979099-121979118
11	RAD21	chr11:121978769-121979453	HCT-116	colon:	n/a	chr11:121979104-121979116 chr11:121979099-121979118
12	POLR2A	chr11:121978747-121979337	HCT-116	colon:	n/a	n/a
13	CTCF	chr11:121978708-121979461	SK-N-SH	brain:	n/a	chr11:121979098-121979116 chr11:121979099-121979115 chr11:121979101-121979114 chr11:121979100-121979121

Variant related genes	Relation type
ENSG00000255248	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11606553	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17126101	0.88[EUR][1000 genomes]
rs17126103	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17126105	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17126108	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17126112	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17126143	0.84[EUR][1000 genomes]
rs17126204	1.00[YRI][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	nsv832288	chr11:121962691-122161533	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	805 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121962800-121992400	Weak transcription	A549	lung
2	chr11:121972800-121979400	Weak transcription	Ovary	ovary
3	chr11:121972800-121985400	Weak transcription	Left Ventricle	heart
4	chr11:121973000-121979400	Weak transcription	Psoas Muscle	Psoas
5	chr11:121973200-121978800	Weak transcription	Adipose Nuclei	Adipose
6	chr11:121973200-121978800	Genic enhancers	HSMM	muscle
7	chr11:121973200-121979000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:121973400-121985000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr11:121973600-121983200	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:121974000-121979800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:121974000-121980000	Genic enhancers	NHLF	lung
12	chr11:121974600-121981600	Genic enhancers	Muscle Satellite Cultured Cells	--
13	chr11:121974800-121984800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:121975400-121979600	Enhancers	NHDF-Ad	bronchial
15	chr11:121975600-121981000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:121976200-121978800	Genic enhancers	NH-A	brain
17	chr11:121976200-121981800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:121976200-121986200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:121976400-121979000	Weak transcription	Right Atrium	heart
20	chr11:121976400-121986600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:121976600-121979800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:121976600-121981400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:121976600-121984800	Genic enhancers	Osteobl	bone
24	chr11:121976800-121978800	Weak transcription	Brain Angular Gyrus	brain
25	chr11:121976800-121992200	Weak transcription	Fetal Brain Female	brain
26	chr11:121977000-121983200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:121977000-121984600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:121977200-121979000	Weak transcription	Brain Substantia Nigra	brain
29	chr11:121977200-121984200	Weak transcription	Brain Anterior Caudate	brain
30	chr11:121977200-121989400	Strong transcription	HMEC	breast
31	chr11:121977400-121979400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:121977400-121983000	Weak transcription	Brain Hippocampus Middle	brain
33	chr11:121977400-121997000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:121977400-122002600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:121977600-121980200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr11:121977800-121979200	Enhancers	HSMMtube	muscle
37	chr11:121977800-121980800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr11:121978000-121979600	Enhancers	HUVEC	blood vessel
39	chr11:121978000-121980400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:121978000-121984000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:121978200-121978800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:121978400-121979000	Weak transcription	Placenta	Placenta
43	chr11:121978400-121979400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:121978400-121983000	Weak transcription	NHEK	skin
45	chr11:121978600-121979000	Flanking Active TSS	Fetal Heart	heart
46	chr11:121978600-121979400	Weak transcription	Aorta	Aorta
47	chr11:121978600-121979800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:121978600-121981000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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