Variant report

Variant	rs17245518
Chromosome Location	chr11:120327817-120327818
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	chr11:120324260-120328029	K562	blood:	n/a	n/a

Variant related genes	Relation type
ARHGEF12	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs61898760	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61898761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61898762	0.90[AMR][1000 genomes]
rs61898763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61898767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120301400-120355200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:120303600-120355600	Weak transcription	Stomach Mucosa	stomach
3	chr11:120303800-120328000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:120304600-120329800	Strong transcription	HSMM	muscle
5	chr11:120304800-120359400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:120306600-120341200	Strong transcription	Osteobl	bone
7	chr11:120306800-120341600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:120307000-120335800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr11:120307000-120341200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:120307600-120334600	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:120308000-120341800	Strong transcription	Fetal Intestine Large	intestine
12	chr11:120308000-120352600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:120308000-120359000	Strong transcription	Placenta	Placenta
14	chr11:120308200-120330600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:120308200-120336400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:120308400-120333200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:120308400-120334600	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr11:120308400-120339000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:120308400-120339000	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr11:120308400-120357800	Strong transcription	Adipose Nuclei	Adipose
21	chr11:120309800-120333800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:120310000-120336000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:120310200-120350600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:120310400-120358000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:120310800-120333800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:120311200-120357200	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:120312000-120328800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr11:120312000-120333800	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:120312200-120333000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:120312200-120339000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:120312400-120328400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:120312400-120329800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr11:120312400-120341800	Strong transcription	Fetal Muscle Leg	muscle
34	chr11:120312400-120351800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:120312400-120354000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr11:120312800-120334000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr11:120312800-120357800	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:120314200-120362200	Strong transcription	Liver	Liver
39	chr11:120314800-120342000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:120315200-120353000	Strong transcription	Fetal Brain Female	brain
41	chr11:120315400-120329000	Strong transcription	Brain Cingulate Gyrus	brain
42	chr11:120315400-120342400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:120315600-120328400	Strong transcription	Brain Germinal Matrix	brain
44	chr11:120315800-120328000	Strong transcription	Brain Hippocampus Middle	brain
45	chr11:120315800-120329600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:120315800-120333800	Strong transcription	Brain Anterior Caudate	brain
47	chr11:120315800-120335200	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr11:120316000-120334000	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:120316400-120382000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:120317400-120328200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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