Variant report

Variant	rs1384265
Chromosome Location	chr5:17214744-17214745
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:17203557..17205619-chr5:17213757..17215779,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1010647	1.00[ASN][1000 genomes]
rs1482342	1.00[ASN][1000 genomes]
rs2731793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4580778	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv830218	chr5:17093162-17290045	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv4738	chr5:17178267-17223677	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv521697	chr5:17211649-17225333	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17200000-17216200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:17212000-17215800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:17212400-17215600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:17212400-17216600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:17213000-17215000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:17213000-17215000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:17213000-17215400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:17213400-17216200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:17213600-17216400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:17213600-17222200	Active TSS	Fetal Brain Female	brain
11	chr5:17213800-17215400	Weak transcription	Stomach Mucosa	stomach
12	chr5:17213800-17216400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:17213800-17217200	Active TSS	Fetal Brain Male	brain
14	chr5:17214000-17214800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr5:17214000-17215400	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr5:17214000-17216200	Active TSS	Brain Angular Gyrus	brain
17	chr5:17214000-17219800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:17214200-17215200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:17214200-17215400	Active TSS	Brain Germinal Matrix	brain
20	chr5:17214200-17216200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr5:17214200-17216400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:17214400-17214800	Flanking Active TSS	A549	lung
23	chr5:17214400-17215000	Enhancers	Hela-S3	cervix
24	chr5:17214400-17215200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:17214400-17215200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr5:17214400-17215400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:17214400-17215400	Weak transcription	Primary B cells from cord blood	blood
28	chr5:17214600-17214800	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr5:17214600-17216400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:17214600-17219400	Active TSS	iPS-20b Cell Line	embryonic stem cell

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