Variant report

Variant	rs17083309
Chromosome Location	chr5:93012990-93012991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12109394	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17083305	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17083328	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs17314172	0.93[YRI][hapmap]
rs6862738	0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6866858	0.86[YRI][hapmap]
rs6897803	0.90[ASW][hapmap];1.00[MEX][hapmap];0.93[YRI][hapmap]
rs7735440	1.00[MEX][hapmap]

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	esv3451945	chr5:92858750-93024740	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv830404	chr5:92868336-93048257	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv532196	chr5:92933949-93573527	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92987000-93015400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:93003200-93044400	Weak transcription	Primary B cells from cord blood	blood
3	chr5:93008600-93014000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:93009200-93013600	Enhancers	NHLF	lung
5	chr5:93009800-93013600	Enhancers	Brain Germinal Matrix	brain
6	chr5:93010200-93013000	Weak transcription	Fetal Stomach	stomach
7	chr5:93010200-93013200	Weak transcription	Gastric	stomach
8	chr5:93010200-93013600	Enhancers	Fetal Lung	lung
9	chr5:93010400-93014000	Enhancers	Fetal Heart	heart
10	chr5:93011200-93013800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:93011200-93013800	Enhancers	HepG2	liver
12	chr5:93011400-93014000	Enhancers	HSMM	muscle
13	chr5:93011400-93014200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:93011600-93013800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr5:93011800-93013000	Weak transcription	Fetal Intestine Small	intestine
16	chr5:93011800-93013200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:93011800-93027200	Weak transcription	Fetal Intestine Large	intestine
18	chr5:93012200-93013200	Weak transcription	Liver	Liver
19	chr5:93012200-93013800	Enhancers	Fetal Muscle Leg	muscle
20	chr5:93012400-93013200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr5:93012400-93013400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr5:93012400-93013600	Enhancers	Brain Substantia Nigra	brain
23	chr5:93012400-93013600	Enhancers	Left Ventricle	heart
24	chr5:93012400-93013600	Enhancers	Pancreas	Pancrea
25	chr5:93012400-93013800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:93012400-93013800	Enhancers	HSMMtube	muscle
27	chr5:93012400-93013800	Enhancers	NHDF-Ad	bronchial
28	chr5:93012400-93013800	Enhancers	Osteobl	bone
29	chr5:93012400-93014000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:93012400-93014000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr5:93012400-93014000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:93012400-93014000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr5:93012400-93014200	Enhancers	Fetal Brain Male	brain
34	chr5:93012600-93013000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:93012600-93013000	Weak transcription	Fetal Kidney	kidney
36	chr5:93012600-93013200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:93012600-93013200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr5:93012600-93013200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:93012600-93013200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:93012600-93013400	Enhancers	Right Atrium	heart
41	chr5:93012600-93013600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr5:93012600-93013600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:93012600-93013600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:93012600-93013600	Enhancers	Brain Cingulate Gyrus	brain
45	chr5:93012600-93013600	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr5:93012600-93013600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr5:93012600-93013600	Enhancers	Right Ventricle	heart
48	chr5:93012600-93013600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr5:93012600-93013800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr5:93012600-93013800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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