Variant report

Variant	rs7114472
Chromosome Location	chr11:108777245-108777246
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17703817	0.86[AFR][1000 genomes]
rs7103209	0.83[AFR][1000 genomes]
rs72993517	0.83[AFR][1000 genomes]
rs72993528	0.83[AFR][1000 genomes]
rs72993554	0.86[AFR][1000 genomes]
rs7939610	0.95[AFR][1000 genomes]
rs7944806	0.83[AFR][1000 genomes]
rs7946592	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898389	chr11:108724639-108891986	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108728400-108810600	Weak transcription	Left Ventricle	heart
2	chr11:108763000-108797600	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:108768000-108810600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:108768200-108779800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:108769000-108791200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr11:108769200-108788600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr11:108769400-108780800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:108769800-108789600	Weak transcription	Primary B cells from cord blood	blood
9	chr11:108774200-108777400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:108775000-108778200	Enhancers	Osteobl	bone
11	chr11:108775000-108794400	Weak transcription	Aorta	Aorta
12	chr11:108775200-108777400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:108775200-108778600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:108775400-108778200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr11:108775400-108779400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:108775800-108779600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:108776200-108777400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:108776200-108777400	Enhancers	HUVEC	blood vessel
19	chr11:108776200-108777800	Enhancers	Hela-S3	cervix
20	chr11:108776200-108778000	Enhancers	NH-A	brain
21	chr11:108776400-108777400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:108776400-108777800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:108776400-108777800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:108776400-108777800	Enhancers	NHEK	skin
25	chr11:108776400-108778200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:108776400-108778400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:108776600-108777800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:108776600-108778000	Enhancers	HMEC	breast
29	chr11:108776600-108778000	Enhancers	NHDF-Ad	bronchial
30	chr11:108776800-108778000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:108776800-108779600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr11:108777000-108777600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:108777000-108777800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:108777000-108777800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:108777000-108777800	Enhancers	HSMM	muscle
36	chr11:108777000-108778000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:108777000-108778000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr11:108777000-108778200	Enhancers	Ovary	ovary
39	chr11:108777000-108778600	Enhancers	NHLF	lung
40	chr11:108777200-108777400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr11:108777200-108777400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:108777200-108777600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr11:108777200-108777800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr11:108777200-108778000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr11:108777200-108778000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:108777200-108778000	Enhancers	Adipose Nuclei	Adipose
47	chr11:108777200-108778000	Flanking Active TSS	A549	lung
48	chr11:108777200-108778200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:108777200-108783800	Weak transcription	Right Atrium	heart
50	chr11:108777200-108797000	Weak transcription	Psoas Muscle	Psoas

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