Variant report

Variant	rs13201878
Chromosome Location	chr6:12943066-12943067
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:12936966..12940457-chr6:12942026..12944192,3	K562	blood:
2	chr6:12936966..12939245-chr6:12942026..12943632,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12526453	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs12528956	1.00[CHD][hapmap]
rs12530250	1.00[JPT][hapmap]
rs13219256	0.95[CEU][hapmap];1.00[CHD][hapmap];0.83[TSI][hapmap]
rs1332841	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1332845	0.95[CEU][hapmap];1.00[CHD][hapmap];0.83[TSI][hapmap]
rs1332847	0.95[CEU][hapmap];1.00[CHD][hapmap];0.83[TSI][hapmap]
rs1360579	1.00[JPT][hapmap]
rs1537340	0.86[CEU][hapmap];1.00[CHD][hapmap]
rs17679501	1.00[JPT][hapmap]
rs2327621	1.00[CHD][hapmap]
rs4131857	1.00[JPT][hapmap]
rs4331981	1.00[JPT][hapmap]
rs4711857	1.00[JPT][hapmap]
rs4711858	1.00[JPT][hapmap]
rs4714946	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4714951	0.95[CEU][hapmap]
rs4715000	0.92[EUR][1000 genomes]
rs6458503	1.00[CHD][hapmap]
rs6905419	0.91[EUR][1000 genomes]
rs6907388	1.00[JPT][hapmap]
rs6922782	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs7739181	1.00[JPT][hapmap];0.86[TSI][hapmap]
rs7748390	0.91[EUR][1000 genomes]
rs7775901	1.00[JPT][hapmap]
rs9296494	1.00[CHD][hapmap]
rs9472777	1.00[JPT][hapmap]
rs9472786	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9473086	1.00[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830588	chr6:12793530-12972493	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv5202	chr6:12916229-12958517	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13201878	HIVEP1	cis	parietal	SCAN
rs13201878	PTPRE	trans	lymphoblastoid	seeQTL
rs13201878	RANBP9	cis	lymphoblastoid	seeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12930400-12951800	Weak transcription	Fetal Brain Female	brain
2	chr6:12933200-12944200	Weak transcription	Brain Germinal Matrix	brain
3	chr6:12941600-12948600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr6:12942000-12944000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:12942000-12944200	Weak transcription	Brain Anterior Caudate	brain
6	chr6:12942000-12945200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr6:12942200-12948600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr6:12942400-12944600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:12942400-12947600	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:12942600-12947400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:12942800-12944000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr6:12943000-12943600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:12943000-12943600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:12943000-12944000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:12943000-12944000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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