Variant report

Variant	rs8008477
Chromosome Location	chr14:44363680-44363681
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:44363445..44365963-chr14:45603332..45605742,2	K562	blood:

Variant related genes	Relation type
ENSG00000187790	Chromatin interaction
ENSG00000100442	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10133779	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10149187	0.83[ASN][1000 genomes]
rs10484238	0.86[ASN][1000 genomes]
rs11157373	0.86[ASN][1000 genomes]
rs12886501	0.86[ASN][1000 genomes]
rs12892164	0.86[ASN][1000 genomes]
rs17212687	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1958234	0.86[ASN][1000 genomes]
rs1958235	0.86[ASN][1000 genomes]
rs2039078	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2208774	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2224623	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4143887	0.86[ASN][1000 genomes]
rs7148250	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067804	chr14:43856486-44623069	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv491854	chr14:43856486-44623069	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1037244	chr14:43901126-44562876	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv542070	chr14:43901126-44562876	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1042754	chr14:44044048-44372602	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv542072	chr14:44044048-44372602	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv456254	chr14:44204571-44992259	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv564651	chr14:44204571-44992259	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1047006	chr14:44231111-44906514	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1038633	chr14:44234962-44901058	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1050364	chr14:44251367-44901134	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv530660	chr14:44259180-44862269	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv470639	chr14:44319623-44750752	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv901798	chr14:44338004-44505210	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv901799	chr14:44344532-44427818	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
16	nsv901800	chr14:44344532-44469169	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv901801	chr14:44344532-44506013	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv1049569	chr14:44346871-44814326	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv542073	chr14:44346871-44814326	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv1047821	chr14:44348233-44443127	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
21	nsv564653	chr14:44352282-44858587	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8008477	PNN	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44342000-44364400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:44361000-44365400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:44363600-44363800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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