Variant report

Variant	rs8004543
Chromosome Location	chr14:56582782-56582783
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	chr14:56582513..56585426-chr14:56585434..56588675,3	K562	blood:

Variant related genes	Relation type
ENSG00000139946	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10140006	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1041075	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1046596	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10873093	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs171339	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2010895	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs241513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs241514	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs241521	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs241522	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs241549	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs241551	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs241552	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs241554	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs241556	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs241558	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs241561	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs241562	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs241564	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs241565	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3186565	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs377471	0.82[JPT][hapmap]
rs3850294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850295	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs387419	0.88[MEX][hapmap]
rs4901637	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61526546	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7149660	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7150067	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7156007	0.84[EUR][1000 genomes]
rs7157298	0.84[EUR][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	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8004543	PELI2	cis	parietal	SCAN
rs8004543	FBXO34	cis	cerebellum	SCAN
rs8004543	TMX1	cis	cerebellum	SCAN
rs8004543	C14orf166	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56579800-56582800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr14:56579800-56584200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:56580200-56583200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr14:56582000-56583200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:56582000-56583400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:56582000-56583800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr14:56582000-56584200	Enhancers	Primary T cells from cord blood	blood
8	chr14:56582000-56584200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:56582000-56584200	Enhancers	Fetal Brain Male	brain
10	chr14:56582200-56583000	Enhancers	Primary B cells from cord blood	blood
11	chr14:56582200-56583200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr14:56582200-56583200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:56582200-56583600	Enhancers	Pancreas	Pancrea
14	chr14:56582200-56584000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr14:56582200-56584000	Enhancers	Fetal Brain Female	brain
16	chr14:56582200-56584200	Enhancers	Fetal Thymus	thymus
17	chr14:56582200-56584600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr14:56582400-56584200	Enhancers	Dnd41	blood
19	chr14:56582600-56583400	Enhancers	Thymus	Thymus
20	chr14:56582600-56583800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:56582600-56584200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr14:56582600-56584200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr14:56582600-56584400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr14:56582600-56584400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr14:56582600-56584600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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