Variant report

Variant	rs9395497
Chromosome Location	chr6:13168535-13168536
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	chr6:13163839..13166326-chr6:13167451..13169624,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10948524	0.87[ASW][hapmap];0.91[CEU][hapmap];0.81[GIH][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11757278	0.91[CEU][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes]
rs12525914	0.86[CEU][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12527257	0.87[ASW][hapmap];0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12528399	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16869294	0.86[ASW][hapmap];0.95[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16873682	0.91[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3778646	0.87[ASW][hapmap];0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3823445	0.87[ASW][hapmap];0.91[CEU][hapmap];0.81[GIH][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4097413	0.91[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4715132	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55763852	0.82[ASN][1000 genomes]
rs62385532	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9349494	0.87[ASW][hapmap];0.91[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9349501	0.81[EUR][1000 genomes]
rs9349502	0.81[EUR][1000 genomes]
rs9357620	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9357634	0.85[EUR][1000 genomes]
rs9367368	0.91[CEU][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9367369	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9369915	0.80[EUR][1000 genomes]
rs9369916	0.84[EUR][1000 genomes]
rs9369917	0.81[EUR][1000 genomes]
rs9381807	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9381809	0.91[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9381810	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9381812	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9381818	0.81[EUR][1000 genomes]
rs9381819	0.81[EUR][1000 genomes]
rs9395520	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs9463511	0.91[CEU][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	nsv883450	chr6:13166341-13196011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3410053	chr6:13167955-13174148	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9395497	HIVEP1	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13150000-13175600	Weak transcription	Lung	lung
2	chr6:13153400-13178000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:13153600-13178200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr6:13153600-13178200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:13153800-13184200	Weak transcription	Aorta	Aorta
6	chr6:13154000-13175600	Weak transcription	Fetal Heart	heart
7	chr6:13159200-13181800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:13159600-13178400	Weak transcription	Right Ventricle	heart
9	chr6:13160000-13171400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:13160000-13177400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:13162400-13175600	Weak transcription	Left Ventricle	heart
12	chr6:13163600-13183400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:13163800-13171400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:13164800-13183400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:13164800-13184400	Weak transcription	Pancreas	Pancrea
16	chr6:13166600-13175400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:13166600-13177800	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:13166800-13169000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:13168000-13172400	Weak transcription	Brain Anterior Caudate	brain
20	chr6:13168400-13171000	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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