Variant report

Variant	rs17126103
Chromosome Location	chr11:121975429-121975430
allele	C/T
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	chr11:121974949-121976090	PFSK-1	brain:	n/a	n/a
2	FOS	chr11:121975144-121975717	MCF10A-Er-Src	breast:	n/a	chr11:121975606-121975617 chr11:121975603-121975615 chr11:121975605-121975612 chr11:121975605-121975614
3	POLR2A	chr11:121974310-121976198	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr11:121975106-121975498	HCT-116	colon:	n/a	n/a
5	POLR2A	chr11:121953786-121984536	U87	brain:	n/a	n/a
6	POLR2A	chr11:121955710-121982592	U87	brain:	n/a	n/a
7	POLR2A	chr11:121974957-121975733	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr11:121955714-121984542	U87	brain:	n/a	n/a
9	FOS	chr11:121975140-121975802	HUVEC	blood vessel:	n/a	chr11:121975606-121975617 chr11:121975603-121975615 chr11:121975605-121975612 chr11:121975605-121975614
10	GATA3	chr11:121975223-121975903	SK-N-SH	brain:	n/a	chr11:121975606-121975615
11	POLR2A	chr11:121975117-121975473	ProgFib	skin:	n/a	n/a
12	GATA2	chr11:121975165-121975718	HUVEC	blood vessel:	n/a	chr11:121975606-121975615
13	POLR2A	chr11:121975018-121975598	HCT-116	colon:	n/a	n/a
14	FOS	chr11:121974882-121975649	MCF10A-Er-Src	breast:	n/a	chr11:121975606-121975617 chr11:121975603-121975615 chr11:121975605-121975612 chr11:121975605-121975614

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:121967293..121970754-chr11:121971859..121975437,3	K562	blood:
2	chr11:121967293..121969294-chr11:121973298..121975437,2	K562	blood:

Variant related genes	Relation type
ENSG00000255248	TF binding region
MIR125B1	TF binding region
ENSG00000207971	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17126101	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17126105	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17126108	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17126110	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17126112	0.85[EUR][1000 genomes]

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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121962000-121976600	Transcr. at gene 5' and 3'	Osteobl	bone
2	chr11:121962800-121992400	Weak transcription	A549	lung
3	chr11:121970600-121976000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:121971200-121977400	Weak transcription	Placenta	Placenta
5	chr11:121971400-121976200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:121971800-121976200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:121972200-121976200	Active TSS	Brain Germinal Matrix	brain
8	chr11:121972800-121979400	Weak transcription	Ovary	ovary
9	chr11:121972800-121985400	Weak transcription	Left Ventricle	heart
10	chr11:121973000-121975600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:121973000-121975600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:121973000-121975800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:121973000-121976000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:121973000-121977000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:121973000-121978200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:121973000-121979400	Weak transcription	Psoas Muscle	Psoas
17	chr11:121973200-121976000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:121973200-121976000	Weak transcription	Aorta	Aorta
19	chr11:121973200-121977200	Genic enhancers	HMEC	breast
20	chr11:121973200-121978800	Weak transcription	Adipose Nuclei	Adipose
21	chr11:121973200-121978800	Genic enhancers	HSMM	muscle
22	chr11:121973200-121979000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:121973400-121975800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:121973400-121975800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:121973400-121976000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:121973400-121977600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:121973400-121977800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr11:121973400-121985000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:121973600-121975600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:121973600-121975800	Enhancers	HSMMtube	muscle
31	chr11:121973600-121983200	Weak transcription	Fetal Muscle Leg	muscle
32	chr11:121973800-121976200	Weak transcription	Fetal Stomach	stomach
33	chr11:121974000-121976000	Weak transcription	Brain Angular Gyrus	brain
34	chr11:121974000-121976000	Enhancers	NHEK	skin
35	chr11:121974000-121979800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:121974000-121980000	Genic enhancers	NHLF	lung
37	chr11:121974200-121975800	Genic enhancers	NH-A	brain
38	chr11:121974400-121976600	Enhancers	HUVEC	blood vessel
39	chr11:121974600-121978000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:121974600-121981600	Genic enhancers	Muscle Satellite Cultured Cells	--
41	chr11:121974800-121976600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:121974800-121977400	Enhancers	Brain Hippocampus Middle	brain
43	chr11:121974800-121984800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:121975000-121975600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:121975000-121975600	Flanking Active TSS	Fetal Brain Female	brain
46	chr11:121975000-121976000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:121975000-121976400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr11:121975000-121976400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:121975200-121976000	Active TSS	Brain Anterior Caudate	brain
50	chr11:121975200-121976200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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