Variant report

Variant	rs312486
Chromosome Location	chr3:53545454-53545455
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	chr3:53545230..53547188-chr3:53548774..53550355,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17053118	1.00[JPT][hapmap]
rs312481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3774426	0.81[CHB][hapmap]
rs740757	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53533200-53546000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:53533600-53552000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr3:53540600-53552200	Weak transcription	Spleen	Spleen
4	chr3:53540600-53560000	Weak transcription	Pancreas	Pancrea
5	chr3:53542600-53551400	Strong transcription	Fetal Intestine Large	intestine
6	chr3:53543600-53547400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:53544600-53545600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:53544800-53546400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr3:53544800-53546800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:53545000-53546200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:53545200-53545600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:53545200-53545600	Strong transcription	Fetal Intestine Small	intestine
13	chr3:53545200-53545600	Strong transcription	Fetal Lung	lung
14	chr3:53545200-53545800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:53545200-53546600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:53545200-53550000	Weak transcription	A549	lung
17	chr3:53545200-53552800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:53545400-53545600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:53545400-53545600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:53545400-53545600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr3:53545400-53545600	Enhancers	Fetal Brain Female	brain
22	chr3:53545400-53545600	ZNF genes & repeats	Lung	lung
23	chr3:53545400-53546000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr3:53545400-53552800	Weak transcription	Fetal Stomach	stomach

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