Variant report

Variant	rs7848626
Chromosome Location	chr9:8322288-8322289
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]
rs10121276	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10733545	0.91[JPT][hapmap]
rs10758953	0.80[ASN][1000 genomes]
rs10758957	0.82[JPT][hapmap]
rs10815823	0.82[JPT][hapmap]
rs10976946	0.90[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11794527	0.82[JPT][hapmap]
rs12552493	0.85[CEU][hapmap]
rs12554953	0.81[CHB][hapmap]
rs12684395	0.81[CHB][hapmap]
rs1500315	0.95[CHB][hapmap]
rs16927547	0.85[CHB][hapmap]
rs20514	0.81[CHB][hapmap]
rs3739578	1.00[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap]
rs3765142	0.81[JPT][hapmap]
rs3765143	0.81[JPT][hapmap]
rs3780336	0.85[CHB][hapmap]
rs3843579	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3847288	0.81[CHB][hapmap]
rs3847291	0.81[CHB][hapmap]
rs4268178	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4740935	0.83[JPT][hapmap]
rs4742487	0.86[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap]
rs7029813	0.84[ASN][1000 genomes]
rs7044532	0.89[ASN][1000 genomes]
rs7848705	0.85[CHB][hapmap]
rs7848818	0.81[CHB][hapmap]
rs7853112	0.82[JPT][hapmap]
rs7867924	0.94[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7868789	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7873084	0.95[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap]

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	nsv8414	chr9:7827373-8511613	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1031472	chr9:8250901-8712547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv892224	chr9:8263737-8338431	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7848626	CD274	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8310800-8323000	Weak transcription	Brain Germinal Matrix	brain
2	chr9:8311200-8322600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:8312200-8322600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:8312200-8338200	Weak transcription	Brain Angular Gyrus	brain
5	chr9:8313800-8329400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr9:8315400-8323000	Weak transcription	Brain Anterior Caudate	brain
7	chr9:8316000-8329600	Weak transcription	Ovary	ovary
8	chr9:8318200-8329000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr9:8319000-8322400	Weak transcription	Brain Hippocampus Middle	brain
10	chr9:8319000-8322800	Weak transcription	Fetal Brain Male	brain
11	chr9:8319200-8322400	Weak transcription	Brain Substantia Nigra	brain
12	chr9:8320200-8322600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:8320800-8323000	Weak transcription	Fetal Lung	lung
14	chr9:8321800-8322800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:8321800-8324200	ZNF genes & repeats	Fetal Brain Female	brain
16	chr9:8322000-8322800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr9:8322200-8322600	Enhancers	Stomach Mucosa	stomach
18	chr9:8322200-8324200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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