Variant report

Variant	rs12705403
Chromosome Location	chr7:106755133-106755134
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:106743520..106747466-chr7:106753735..106757334,5	K562	blood:
2	chr7:106748010..106751921-chr7:106752496..106755574,4	K562	blood:
3	chr7:106753651..106755163-chr7:106808603..106811141,2	K562	blood:
4	chr7:106753697..106755330-chr7:106755461..106757211,2	K562	blood:

Variant related genes	Relation type
ENSG00000105856	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10281856	0.81[CHD][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap]
rs10953528	0.85[ASN][1000 genomes]
rs11760261	0.83[JPT][hapmap]
rs12667954	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12669339	0.85[ASN][1000 genomes]
rs12674011	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12705402	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1860803	0.81[CHD][hapmap];0.83[JPT][hapmap]
rs2237652	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2237654	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2237656	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237657	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2283037	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2302453	0.86[ASW][hapmap];0.93[CEU][hapmap];0.85[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2395836	0.85[MKK][hapmap]
rs257384	0.85[MKK][hapmap]
rs3735613	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3801969	0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.81[TSI][hapmap];0.85[ASN][1000 genomes]
rs62483580	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62483581	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6466156	0.81[CHD][hapmap]
rs6466157	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6466158	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6946733	0.94[MKK][hapmap]
rs6952920	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6969719	0.81[JPT][hapmap]
rs717099	0.83[JPT][hapmap]
rs741008	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7790497	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7809330	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs917760	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9648946	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831087	chr7:106673465-106872460	Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12705403	PSMC2	cis	cerebellum	SCAN
rs12705403	DLD	cis	parietal	SCAN
rs12705403	MLL5	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106744200-106755800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr7:106746400-106759000	Weak transcription	Left Ventricle	heart
3	chr7:106746600-106756200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:106746600-106760400	Weak transcription	Right Atrium	heart
5	chr7:106747200-106757800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:106747200-106758800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:106747200-106758800	Weak transcription	Fetal Brain Female	brain
8	chr7:106748800-106756200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:106748800-106758800	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:106749800-106758400	Weak transcription	HUVEC	blood vessel
11	chr7:106752000-106756000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:106752000-106758400	Weak transcription	Right Ventricle	heart
13	chr7:106752600-106756000	Weak transcription	Placenta	Placenta
14	chr7:106753800-106755600	Enhancers	K562	blood
15	chr7:106754600-106756200	Weak transcription	Fetal Heart	heart

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