Variant report

Variant	rs72817124
Chromosome Location	chr5:114911100-114911101
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114903873..114906375-chr5:114910655..114912171,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AP3S1-11	chr5:114910746-114913269	NONHSAT103306

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72815264	1.00[AFR][1000 genomes]
rs72817114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72817122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72817130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72817141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114901400-114922400	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:114902400-114911200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:114904800-114911200	Weak transcription	HSMMtube	muscle
4	chr5:114907800-114918200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr5:114908200-114918600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:114908400-114911200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:114908400-114912400	Enhancers	NHDF-Ad	bronchial
8	chr5:114908600-114912200	Enhancers	Osteobl	bone
9	chr5:114908800-114911600	Enhancers	GM12878-XiMat	blood
10	chr5:114908800-114915200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:114908800-114918600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:114909000-114911200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:114909000-114911200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:114909000-114911200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:114909000-114914400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:114909000-114914400	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:114909000-114914600	Weak transcription	Brain Anterior Caudate	brain
18	chr5:114909000-114914800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:114909000-114918800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:114909000-114919200	Weak transcription	Left Ventricle	heart
21	chr5:114909000-114919200	Weak transcription	Psoas Muscle	Psoas
22	chr5:114909200-114911200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:114909200-114912800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:114909400-114911200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:114910200-114911200	Enhancers	Primary B cells from peripheral blood	blood
26	chr5:114910200-114912200	Enhancers	NHEK	skin
27	chr5:114910200-114918400	Weak transcription	Fetal Intestine Large	intestine
28	chr5:114910400-114914400	Weak transcription	Brain Substantia Nigra	brain
29	chr5:114910400-114914600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:114910400-114925200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr5:114910400-114929400	Weak transcription	Adipose Nuclei	Adipose
32	chr5:114910800-114912000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:114910800-114916600	Weak transcription	Ovary	ovary
34	chr5:114911000-114911200	Enhancers	Gastric	stomach
35	chr5:114911000-114911200	Flanking Active TSS	NH-A	brain
36	chr5:114911000-114911200	Genic enhancers	NHLF	lung
37	chr5:114911000-114911400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:114911000-114911400	Flanking Active TSS	HUVEC	blood vessel
39	chr5:114911000-114911600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr5:114911000-114912200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:114911000-114912200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:114911000-114912200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:114911000-114912200	Enhancers	HMEC	breast
44	chr5:114911000-114912400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:114911000-114912400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr5:114911000-114912600	Genic enhancers	HSMM	muscle

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