Variant report

Variant	rs12546300
Chromosome Location	chr8:106759716-106759717
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	chr8:106759234..106760826-chr8:106763772..106766231,2	K562	blood:
2	chr8:106753473..106755811-chr8:106757998..106761586,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10106386	0.86[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1025856	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11776679	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12541049	0.89[ASN][1000 genomes]
rs12542643	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12545480	0.95[ASN][1000 genomes]
rs12547056	0.95[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.96[ASN][1000 genomes]
rs12550547	0.83[ASN][1000 genomes]
rs1442326	0.96[ASN][1000 genomes]
rs1578995	0.87[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16873601	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1992471	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2165644	0.84[EUR][1000 genomes]
rs28565020	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4302813	0.95[ASN][1000 genomes]
rs57566398	0.87[ASN][1000 genomes]
rs58307372	0.96[ASN][1000 genomes]
rs6992301	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7003445	0.87[AFR][1000 genomes]
rs73305073	0.87[ASN][1000 genomes]
rs753536	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7816793	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7823563	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7836133	0.91[AFR][1000 genomes];0.91[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	nsv1021369	chr8:106493317-107243322	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv831418	chr8:106648456-106833333	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv891260	chr8:106737459-106808078	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12546300	ZFPM2	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:106742800-106760000	Weak transcription	Left Ventricle	heart
2	chr8:106743600-106768400	Weak transcription	Psoas Muscle	Psoas
3	chr8:106750000-106768200	Weak transcription	K562	blood
4	chr8:106750200-106760000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:106753800-106772000	Weak transcription	Aorta	Aorta
6	chr8:106756800-106761600	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:106757200-106768200	Weak transcription	Ovary	ovary
8	chr8:106758400-106760800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:106759000-106760000	Enhancers	Brain Germinal Matrix	brain
10	chr8:106759000-106760200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:106759000-106762000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr8:106759200-106760200	Enhancers	Fetal Brain Male	brain
13	chr8:106759200-106762400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr8:106759400-106759800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr8:106759400-106760000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:106759400-106760000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr8:106759400-106760200	Enhancers	HUVEC	blood vessel
18	chr8:106759400-106762000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr8:106759600-106759800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:106759600-106760000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:106759600-106760000	Enhancers	Stomach Mucosa	stomach
22	chr8:106759600-106760200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:106759600-106760200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:106759600-106760200	Enhancers	Fetal Heart	heart
25	chr8:106759600-106760200	Enhancers	Fetal Lung	lung
26	chr8:106759600-106760200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr8:106759600-106760600	Enhancers	Fetal Brain Female	brain
28	chr8:106759600-106765800	Enhancers	HUES48 Cell Line	embryonic stem cell

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