Variant report

Variant	rs10486010
Chromosome Location	chr7:97478318-97478319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97476719..97478730-chr7:97498518..97501165,2	K562	blood:
2	chr7:97477704..97479355-chr7:97492611..97494448,2	K562	blood:

Variant related genes	Relation type
ENSG00000070669	Chromatin interaction
ENSG00000226744	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10486009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10486011	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11760644	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11762319	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11773753	0.81[EUR][1000 genomes]
rs12668015	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13224424	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13226994	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13227012	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13237150	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13239311	0.82[CHB][hapmap];0.97[GIH][hapmap]
rs17131831	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34444766	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34511149	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34836650	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35381536	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41278830	0.81[EUR][1000 genomes]
rs55960605	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6966699	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71563538	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7786920	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7798347	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7803055	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv428178	chr7:97402756-97648029	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758124	chr7:97476284-97648029	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759546	chr7:97476284-97648029	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10486010	CYP3A4	cis	cerebellum	SCAN
rs10486010	ZNF394	cis	cerebellum	SCAN
rs10486010	STAG3	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97472800-97483000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:97473000-97480800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:97473400-97480800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:97474400-97480800	Weak transcription	Brain Germinal Matrix	brain
5	chr7:97474800-97482600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:97475000-97492800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:97476000-97480800	Weak transcription	Primary B cells from cord blood	blood
8	chr7:97477000-97480600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:97477000-97481200	Weak transcription	Brain Substantia Nigra	brain
10	chr7:97477200-97485400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:97477400-97480800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:97477400-97481200	Weak transcription	Pancreas	Pancrea
13	chr7:97477400-97481200	Weak transcription	HSMM	muscle
14	chr7:97477600-97480600	Weak transcription	Brain Hippocampus Middle	brain
15	chr7:97477600-97500600	Weak transcription	Thymus	Thymus
16	chr7:97477800-97480800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr7:97477800-97481400	Weak transcription	Fetal Lung	lung

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