Variant report

Variant	rs256987
Chromosome Location	chr5:114910322-114910323
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114709493..114710351-chr5:114909755..114910754,3	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12187973	0.85[ASN][1000 genomes]
rs171774	0.81[ASN][1000 genomes]
rs173965	0.95[ASN][1000 genomes]
rs173966	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs187682	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2169771	0.83[ASN][1000 genomes]
rs2546486	0.83[ASN][1000 genomes]
rs2559990	0.85[ASN][1000 genomes]
rs256943	0.84[ASN][1000 genomes]
rs256944	0.96[ASN][1000 genomes]
rs256945	0.96[ASN][1000 genomes]
rs256959	0.81[EUR][1000 genomes]
rs256968	0.82[ASN][1000 genomes]
rs256969	0.93[ASN][1000 genomes]
rs256970	0.94[ASN][1000 genomes]
rs256971	0.93[ASN][1000 genomes]
rs256972	0.93[ASN][1000 genomes]
rs256976	0.82[EUR][1000 genomes]
rs256978	0.90[ASN][1000 genomes]
rs256980	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs256984	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs256986	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256988	0.99[ASN][1000 genomes]
rs256991	0.99[ASN][1000 genomes]
rs256993	0.99[ASN][1000 genomes]
rs256994	0.87[ASN][1000 genomes]
rs256996	0.86[ASN][1000 genomes]
rs256997	0.96[ASN][1000 genomes]
rs256998	0.96[ASN][1000 genomes]
rs387718	0.85[ASN][1000 genomes]
rs415577	0.96[ASN][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:43 , 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	chr5:114906200-114910600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:114906400-114910400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:114907600-114911000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:114907800-114918200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr5:114908200-114911000	Enhancers	HUVEC	blood vessel
9	chr5:114908200-114918600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:114908400-114911200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:114908400-114912400	Enhancers	NHDF-Ad	bronchial
12	chr5:114908600-114912200	Enhancers	Osteobl	bone
13	chr5:114908800-114911600	Enhancers	GM12878-XiMat	blood
14	chr5:114908800-114915200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:114908800-114918600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:114909000-114911200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:114909000-114911200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:114909000-114911200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:114909000-114914400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:114909000-114914400	Weak transcription	Brain Hippocampus Middle	brain
21	chr5:114909000-114914600	Weak transcription	Brain Anterior Caudate	brain
22	chr5:114909000-114914800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:114909000-114918800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:114909000-114919200	Weak transcription	Left Ventricle	heart
25	chr5:114909000-114919200	Weak transcription	Psoas Muscle	Psoas
26	chr5:114909200-114911000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:114909200-114911200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:114909200-114912800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:114909400-114911200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:114909600-114910400	Weak transcription	HSMM	muscle
31	chr5:114909600-114911000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:114909800-114910400	Enhancers	Fetal Heart	heart
33	chr5:114909800-114911000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:114910000-114910400	Enhancers	Brain Substantia Nigra	brain
35	chr5:114910000-114911000	Weak transcription	NHLF	lung
36	chr5:114910200-114910400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:114910200-114910400	Enhancers	Adipose Nuclei	Adipose
38	chr5:114910200-114910400	Enhancers	Brain Angular Gyrus	brain
39	chr5:114910200-114910400	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr5:114910200-114910400	Enhancers	NH-A	brain
41	chr5:114910200-114911200	Enhancers	Primary B cells from peripheral blood	blood
42	chr5:114910200-114912200	Enhancers	NHEK	skin
43	chr5:114910200-114918400	Weak transcription	Fetal Intestine Large	intestine

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