Variant report

Variant	rs57847819
Chromosome Location	chr5:100230721-100230722
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs73775449	0.89[AFR][1000 genomes]
rs73775644	0.89[AFR][1000 genomes]
rs73777433	1.00[AFR][1000 genomes]
rs73777434	0.80[AFR][1000 genomes]
rs73777435	0.80[AFR][1000 genomes]
rs73777436	1.00[AFR][1000 genomes]
rs73777437	1.00[AFR][1000 genomes]
rs73777443	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	esv1834675	chr5:100143084-100535029	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100200200-100234400	Weak transcription	Fetal Brain Male	brain
2	chr5:100208000-100235800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:100219000-100233400	Weak transcription	Brain Germinal Matrix	brain
4	chr5:100225000-100231600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:100225200-100233800	Weak transcription	Thymus	Thymus
6	chr5:100226400-100233800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:100226400-100235600	Weak transcription	Placenta	Placenta
8	chr5:100226800-100233800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:100227000-100234400	Weak transcription	Right Atrium	heart
10	chr5:100227000-100235600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:100227200-100231600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr5:100227200-100232800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:100227200-100232800	Weak transcription	Osteobl	bone
14	chr5:100227200-100235600	Weak transcription	Fetal Lung	lung
15	chr5:100227600-100231800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr5:100228000-100231200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:100228000-100231400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:100228000-100231600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:100228000-100232600	Strong transcription	Primary B cells from peripheral blood	blood
20	chr5:100228200-100231200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:100228600-100230800	Genic enhancers	Dnd41	blood
22	chr5:100228600-100231800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr5:100229000-100231000	Strong transcription	HUVEC	blood vessel
24	chr5:100229000-100231600	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr5:100229200-100232000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
26	chr5:100229200-100235400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr5:100229400-100231400	Strong transcription	Primary B cells from cord blood	blood
28	chr5:100229400-100231400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:100229400-100232400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
30	chr5:100229600-100231000	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr5:100229600-100231000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:100229600-100231200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
33	chr5:100229600-100232200	Strong transcription	Fetal Thymus	thymus
34	chr5:100229800-100231200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr5:100230000-100231400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr5:100230000-100231600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr5:100230200-100231600	Strong transcription	Primary hematopoietic stem cells	blood
38	chr5:100230200-100235200	Enhancers	Primary T cells from cord blood	blood
39	chr5:100230400-100231200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:100230400-100233800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr5:100230600-100231000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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