Variant report

Variant	rs1482342
Chromosome Location	chr5:17213706-17213707
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr5:17213597-17213782	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
BASP1	TF binding region

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]
rs1384265	1.00[ASN][1000 genomes]
rs2731793	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:25 , 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	chr5:17212400-17214400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr5:17212400-17215600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:17212400-17216600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:17213000-17214000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:17213000-17214000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:17213000-17214400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:17213000-17214600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:17213000-17215000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr5:17213000-17215000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:17213000-17215400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:17213200-17213800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr5:17213200-17214000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:17213200-17214200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:17213400-17213800	Flanking Active TSS	A549	lung
17	chr5:17213400-17214200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:17213400-17214400	Flanking Active TSS	Hela-S3	cervix
19	chr5:17213400-17216200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:17213600-17213800	Enhancers	Fetal Brain Male	brain
21	chr5:17213600-17214000	Enhancers	Brain Germinal Matrix	brain
22	chr5:17213600-17214200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:17213600-17214200	Enhancers	Primary hematopoietic stem cells	blood
24	chr5:17213600-17216400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:17213600-17222200	Active TSS	Fetal Brain Female	brain

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