Variant report

Variant	rs745327
Chromosome Location	chr12:122456524-122456525
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TRIM28	chr12:122456263-122456727	K562	blood:	n/a	n/a
2	KAP1	chr12:122456267-122456929	K562	blood:	n/a	n/a
3	CBX3	chr12:122456349-122456650	K562	blood:	n/a	n/a
4	CBX3	chr12:122456342-122456747	K562	blood:	n/a	n/a
5	ZNF143	chr12:122456409-122456666	K562	blood:	n/a	n/a
6	SETDB1	chr12:122456102-122456883	U2OS	brain:	n/a	n/a
7	POLR2A	chr12:122456097-122457047	Raji	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122455179..122457672-chr12:122458203..122460208,2	MCF-7	breast:
2	chr12:122454893..122456879-chr12:122458189..122460220,2	MCF-7	breast:
3	chr12:122236856..122239163-chr12:122456320..122458969,2	K562	blood:

No data

Variant related genes	Relation type
BCL7A	TF binding region
ENSG00000110987	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1169076	0.87[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1169079	0.87[ASN][1000 genomes]
rs1169081	0.82[CHB][hapmap];0.83[CHD][hapmap]
rs1169083	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1169084	0.81[CEU][hapmap];0.83[CHB][hapmap];0.82[CHD][hapmap];0.84[GIH][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1169086	0.85[ASN][1000 genomes]
rs1169087	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1169091	0.81[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.83[MEX][hapmap]
rs1169094	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1169095	0.83[EUR][1000 genomes]
rs1169096	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1177588	0.81[CHB][hapmap]
rs1177589	0.87[ASN][1000 genomes]
rs1179947	0.87[CHB][hapmap];0.82[CHD][hapmap];0.85[ASN][1000 genomes]
rs12578258	0.82[CHB][hapmap]
rs1375653	0.82[CHB][hapmap]
rs1375654	0.80[CHB][hapmap]
rs1375655	0.82[CHB][hapmap]
rs1630699	0.81[CHB][hapmap]
rs1678952	0.81[CHB][hapmap]
rs1678953	0.82[CHB][hapmap]
rs1720030	0.82[CHB][hapmap]
rs1720068	0.82[CHB][hapmap]
rs1814592	0.84[ASN][1000 genomes]
rs2009257	0.81[CEU][hapmap];0.87[CHB][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2272133	0.81[CEU][hapmap];0.87[CHB][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap]
rs2272135	0.81[CHB][hapmap]
rs2309275	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs529736	0.84[CHD][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs59397548	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs658957	0.88[ASN][1000 genomes]
rs7313748	0.82[CHB][hapmap]
rs830118	0.88[ASN][1000 genomes]
rs830120	0.91[CHB][hapmap];0.87[CHD][hapmap];0.81[ASN][1000 genomes]
rs830121	0.87[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];0.82[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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs745327	WDR66	cis	cerebellum	SCAN
rs745327	CCDC60	cis	cerebellum	SCAN
rs745327	SUDS3	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122442600-122458800	Weak transcription	Aorta	Aorta
2	chr12:122443000-122458800	Weak transcription	Brain Anterior Caudate	brain
3	chr12:122443400-122458800	Weak transcription	Right Ventricle	heart
4	chr12:122443400-122459000	Weak transcription	Right Atrium	heart
5	chr12:122444600-122458600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:122454800-122459000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:122455600-122458800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:122456000-122457600	ZNF genes & repeats	Fetal Thymus	thymus
9	chr12:122456000-122457600	Enhancers	Dnd41	blood
10	chr12:122456200-122456600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:122456400-122457400	Weak transcription	Thymus	Thymus
12	chr12:122456400-122458800	Weak transcription	Pancreas	Pancrea

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