Variant report

Variant	rs17126112
Chromosome Location	chr11:121979678-121979679
allele	A/C
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	CTCF	chr11:121979440-121979710	NHEK	skin:	n/a	n/a
2	POLR2A	chr11:121953786-121984536	U87	brain:	n/a	n/a
3	POLR2A	chr11:121955710-121982592	U87	brain:	n/a	n/a
4	POLR2A	chr11:121955714-121984542	U87	brain:	n/a	n/a
5	POLR2A	chr11:121979338-121980202	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
ENSG00000255248	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11606553	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17126101	0.91[EUR][1000 genomes]
rs17126103	0.85[EUR][1000 genomes]
rs17126105	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17126108	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17126110	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17126143	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv898430	chr11:121979678-122056327	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	546 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17126112	PALLD	trans	lymphoblastoid	seeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121962800-121992400	Weak transcription	A549	lung
2	chr11:121972800-121985400	Weak transcription	Left Ventricle	heart
3	chr11:121973400-121985000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:121973600-121983200	Weak transcription	Fetal Muscle Leg	muscle
5	chr11:121974000-121979800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:121974000-121980000	Genic enhancers	NHLF	lung
7	chr11:121974600-121981600	Genic enhancers	Muscle Satellite Cultured Cells	--
8	chr11:121974800-121984800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:121975600-121981000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:121976200-121981800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:121976200-121986200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:121976400-121986600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:121976600-121979800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:121976600-121981400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:121976600-121984800	Genic enhancers	Osteobl	bone
16	chr11:121976800-121992200	Weak transcription	Fetal Brain Female	brain
17	chr11:121977000-121983200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:121977000-121984600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:121977200-121984200	Weak transcription	Brain Anterior Caudate	brain
20	chr11:121977200-121989400	Strong transcription	HMEC	breast
21	chr11:121977400-121983000	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:121977400-121997000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:121977400-122002600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:121977600-121980200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr11:121977800-121980800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr11:121978000-121980400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:121978000-121984000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:121978400-121983000	Weak transcription	NHEK	skin
29	chr11:121978600-121979800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:121978600-121981000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:121978800-121983200	Strong transcription	NH-A	brain
32	chr11:121978800-121987400	Strong transcription	HSMM	muscle
33	chr11:121979000-121979800	Enhancers	Right Atrium	heart
34	chr11:121979000-121980200	Enhancers	Fetal Heart	heart
35	chr11:121979200-121984800	Weak transcription	Brain Substantia Nigra	brain
36	chr11:121979400-121980000	Enhancers	Aorta	Aorta
37	chr11:121979400-121980000	Enhancers	Brain Angular Gyrus	brain
38	chr11:121979400-121980000	Enhancers	Ovary	ovary
39	chr11:121979400-121980000	Enhancers	Psoas Muscle	Psoas
40	chr11:121979400-121980600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:121979400-121983200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:121979400-121983800	Strong transcription	HSMMtube	muscle
43	chr11:121979600-121981000	Weak transcription	HUVEC	blood vessel
44	chr11:121979600-121982000	Genic enhancers	NHDF-Ad	bronchial
45	chr11:121979600-121983400	Weak transcription	Adipose Nuclei	Adipose
46	chr11:121979600-121986800	Weak transcription	Placenta	Placenta

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