Variant report

Variant	rs889300
Chromosome Location	chr5:95192217-95192218
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10044151	1.00[CHB][hapmap]
rs11135436	0.84[CHD][hapmap]
rs17085176	0.81[CHD][hapmap]
rs2080947	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2546195	0.89[JPT][hapmap];0.98[ASN][1000 genomes]
rs60436833	0.95[ASN][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	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95179000-95206000	Weak transcription	Spleen	Spleen
2	chr5:95185000-95192400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:95185000-95193000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:95185200-95192400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:95186400-95194200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:95186600-95192800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:95188400-95195600	Enhancers	Fetal Heart	heart
8	chr5:95188600-95194400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr5:95188800-95192800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr5:95188800-95193000	Weak transcription	Stomach Mucosa	stomach
11	chr5:95189400-95193400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr5:95191000-95194200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:95191000-95194200	Enhancers	Brain Hippocampus Middle	brain
14	chr5:95191000-95194200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr5:95191000-95194200	Enhancers	Brain Substantia Nigra	brain
16	chr5:95191000-95194400	Enhancers	Brain Angular Gyrus	brain
17	chr5:95191200-95192400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr5:95191200-95193200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:95191200-95193400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:95191200-95194200	Enhancers	Brain Anterior Caudate	brain
21	chr5:95191200-95194200	Enhancers	Brain Cingulate Gyrus	brain
22	chr5:95191200-95194200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:95191800-95193600	Enhancers	Right Ventricle	heart
24	chr5:95191800-95194000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:95191800-95194400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr5:95191800-95195800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:95191800-95195800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:95192000-95192600	Flanking Active TSS	Liver	Liver
29	chr5:95192000-95201400	Enhancers	Placenta	Placenta
30	chr5:95192200-95192400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr5:95192200-95192400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:95192200-95192400	Enhancers	Small Intestine	intestine
33	chr5:95192200-95192800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:95192200-95192800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:95192200-95192800	Enhancers	Psoas Muscle	Psoas
36	chr5:95192200-95193400	Weak transcription	Fetal Kidney	kidney
37	chr5:95192200-95193400	Enhancers	Fetal Muscle Trunk	muscle
38	chr5:95192200-95193400	Enhancers	HepG2	liver
39	chr5:95192200-95193600	Enhancers	NHLF	lung
40	chr5:95192200-95193800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:95192200-95194200	Enhancers	Adipose Nuclei	Adipose
42	chr5:95192200-95194200	Weak transcription	Fetal Brain Male	brain
43	chr5:95192200-95194400	Enhancers	Esophagus	oesophagus
44	chr5:95192200-95194400	Enhancers	Pancreas	Pancrea
45	chr5:95192200-95194400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr5:95192200-95194600	Enhancers	Left Ventricle	heart
47	chr5:95192200-95194600	Enhancers	Ovary	ovary
48	chr5:95192200-95194800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:95192200-95195000	Enhancers	Lung	lung
50	chr5:95192200-95195000	Enhancers	Right Atrium	heart

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