Variant report

Variant	rs9643314
Chromosome Location	chr8:91804805-91804806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr8:91803569-91805885	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:91655850..91658481-chr8:91804520..91806285,2	MCF-7	breast:
2	chr8:91804614..91806911-chr8:91923508..91925621,2	MCF-7	breast:
3	chr8:91799742..91802309-chr8:91804087..91807795,3	MCF-7	breast:
4	chr8:91796248..91798729-chr8:91804417..91806000,2	K562	blood:

Variant related genes	Relation type
TMEM64	TF binding region
ENSG00000180694	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10091562	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10095791	0.81[EUR][1000 genomes]
rs10956778	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11991316	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12680488	0.95[CEU][hapmap];0.81[CHB][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12681868	0.95[CEU][hapmap];0.81[CHB][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1463921	0.95[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];0.87[MEX][hapmap];0.81[EUR][1000 genomes]
rs1504791	0.95[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];0.84[GIH][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs1504792	0.95[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];0.84[GIH][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs1542930	0.95[CEU][hapmap];0.81[CHB][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1542931	0.95[CEU][hapmap];0.81[CHB][hapmap]
rs1587837	0.95[CEU][hapmap];0.81[CHB][hapmap]
rs16905417	0.95[CEU][hapmap];0.81[CHB][hapmap]
rs1818193	0.95[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];0.86[GIH][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1875901	0.95[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];0.84[GIH][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap]
rs1971347	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2062881	0.95[CEU][hapmap];0.81[CHB][hapmap];0.81[EUR][1000 genomes]
rs3913686	0.95[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];0.84[GIH][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4433109	0.94[CEU][hapmap];0.81[CHB][hapmap];0.81[EUR][1000 genomes]
rs4489289	0.95[CEU][hapmap];0.81[CHB][hapmap];0.83[GIH][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4546617	0.95[CEU][hapmap];0.81[CHB][hapmap];0.81[EUR][1000 genomes]
rs4735399	0.95[CEU][hapmap];0.81[CHB][hapmap]
rs6471254	0.81[GIH][hapmap];0.82[TSI][hapmap]
rs67651572	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7822476	1.00[ASW][hapmap];0.95[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.92[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7824486	0.81[EUR][1000 genomes]
rs7825807	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9297887	0.95[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];0.83[MEX][hapmap];0.81[EUR][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	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1034104	chr8:91723213-91847147	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv539673	chr8:91723213-91847147	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9643314	FAM92A1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91802800-91805200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
2	chr8:91803000-91805800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:91803000-91807200	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr8:91803400-91805000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr8:91803400-91805200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr8:91803400-91805200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr8:91803400-91805200	Bivalent/Poised TSS	Fetal Brain Female	brain
8	chr8:91803600-91805400	Active TSS	Brain Substantia Nigra	brain
9	chr8:91803600-91806200	Active TSS	Brain Cingulate Gyrus	brain
10	chr8:91803600-91806400	Active TSS	Brain Angular Gyrus	brain
11	chr8:91803600-91806800	Active TSS	Brain Anterior Caudate	brain
12	chr8:91803800-91806000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:91804400-91805000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
14	chr8:91804400-91805000	Bivalent Enhancer	A549	lung
15	chr8:91804400-91805200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
16	chr8:91804400-91805800	Active TSS	Lung	lung
17	chr8:91804400-91805800	Bivalent Enhancer	Stomach Mucosa	stomach
18	chr8:91804600-91805000	Bivalent Enhancer	Brain Germinal Matrix	brain
19	chr8:91804600-91805200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
20	chr8:91804600-91805200	Bivalent Enhancer	Adipose Nuclei	Adipose
21	chr8:91804600-91805400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
22	chr8:91804800-91805000	Active TSS	Fetal Brain Male	brain
23	chr8:91804800-91805200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:91804800-91805400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:91804800-91805400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain

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