Variant report

Variant	rs9349494
Chromosome Location	chr6:13173147-13173148
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10948524	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11757278	1.00[CEU][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes]
rs12525914	0.95[CEU][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12527257	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12528399	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16869294	1.00[ASW][hapmap];0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16873682	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3778646	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3823445	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4097413	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4715132	0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62385532	0.90[AFR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9349501	0.81[EUR][1000 genomes]
rs9349502	0.81[EUR][1000 genomes]
rs9357620	0.91[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9357634	0.85[EUR][1000 genomes]
rs9367368	0.87[ASW][hapmap];1.00[CEU][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][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	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9381809	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9381810	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9381812	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9381818	0.81[EUR][1000 genomes]
rs9381819	0.81[EUR][1000 genomes]
rs9395495	0.83[CHB][hapmap];0.81[CHD][hapmap]
rs9395497	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]
rs9395520	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs9463511	1.00[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
rs9349494	HIVEP1	cis	parietal	SCAN

Chromatin state (count:29 , 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	chr6:13160000-13177400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:13162400-13175600	Weak transcription	Left Ventricle	heart
11	chr6:13163600-13183400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:13164800-13183400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:13164800-13184400	Weak transcription	Pancreas	Pancrea
14	chr6:13166600-13175400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:13166600-13177800	Weak transcription	Brain Hippocampus Middle	brain
16	chr6:13169200-13174200	Weak transcription	Fetal Brain Female	brain
17	chr6:13171000-13175600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:13171800-13175600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:13172000-13175400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:13172400-13173400	Enhancers	Brain Anterior Caudate	brain
21	chr6:13172400-13176200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr6:13172400-13176600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr6:13172400-13176600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr6:13172600-13176800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr6:13172800-13175600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr6:13172800-13191800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:13173000-13173600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr6:13173000-13173800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:13173000-13175400	Weak transcription	H1 Cell Line	embryonic stem cell

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