Variant report

Variant	rs2070850
Chromosome Location	chr11:46741495-46741496
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	POLR2A	chr11:46739568-46742670	HepG2	liver:	n/a	n/a
2	MXI1	chr11:46741451-46741725	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:46739545-46758468	HepG2	liver:	n/a	n/a
4	MYBL2	chr11:46741405-46742145	HepG2	liver:	n/a	n/a
5	MAX	chr11:46739543-46741963	HepG2	liver:	n/a	chr11:46741848-46741858
6	HEY1	chr11:46740465-46742012	HepG2	liver:	n/a	n/a
7	HEY1	chr11:46739579-46742651	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:46740457-46742643	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:46740464-46741688	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:46740525-46741766	HepG2	liver:	n/a	n/a
11	TAF1	chr11:46740552-46741855	HepG2	liver:	n/a	n/a
12	POLR2A	chr11:46740441-46741919	HepG2	liver:	n/a	n/a
13	RCOR1	chr11:46741219-46741532	HepG2	liver:	n/a	n/a
14	YY1	chr11:46740445-46741622	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46721125..46723767-chr11:46740816..46743369,3	K562	blood:
2	chr11:46402912..46405362-chr11:46740261..46742073,2	K562	blood:

Variant related genes	Relation type
F2	TF binding region
ENSG00000175213	Chromatin interaction
ENSG00000175220	Chromatin interaction
ENSG00000110492	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1007738	0.86[CHB][hapmap]
rs10734548	0.87[CHB][hapmap]
rs10769211	0.87[CHB][hapmap]
rs10838612	0.86[CHB][hapmap]
rs11038977	1.00[CEU][hapmap];0.95[CHB][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11039002	0.82[CEU][hapmap];0.87[CHB][hapmap]
rs11039014	0.87[CHB][hapmap]
rs11602036	0.83[AMR][1000 genomes]
rs11602537	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11604876	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12574512	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12575609	0.80[AMR][1000 genomes]
rs1380949	1.00[YRI][hapmap]
rs1551744	0.87[CHB][hapmap]
rs1799867	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2070851	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2306028	1.00[CEU][hapmap];0.87[CHB][hapmap]
rs2306033	1.00[CEU][hapmap];0.87[CHB][hapmap]
rs3136441	1.00[CEU][hapmap];0.95[CHB][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3136447	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3136449	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3136457	0.89[CHB][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3136458	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136460	1.00[CEU][hapmap];0.96[CHB][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3136499	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4076557	1.00[CEU][hapmap];0.91[CHB][hapmap];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4294527	0.87[CHB][hapmap]
rs4453193	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs4453194	0.84[AMR][1000 genomes]
rs4491174	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4534535	0.85[AMR][1000 genomes]
rs4603265	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4752931	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4752932	1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4752933	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[AMR][1000 genomes]
rs4752945	1.00[YRI][hapmap]
rs4752946	1.00[CEU][hapmap];0.87[CHB][hapmap]
rs4752947	1.00[CEU][hapmap];0.87[CHB][hapmap]
rs57704144	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58561056	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58922799	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5896	1.00[CEU][hapmap];0.95[CHB][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61337452	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6485699	1.00[YRI][hapmap]
rs7101374	0.87[CHB][hapmap]
rs7107778	0.87[CHB][hapmap]
rs7111243	1.00[YRI][hapmap]
rs7119251	1.00[YRI][hapmap]
rs7128533	1.00[YRI][hapmap]
rs7929294	0.83[CHB][hapmap]
rs964551	0.87[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv897322	chr11:46739748-46748916	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv3474063	chr11:46740876-46745174	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3474074	chr11:46740876-46745174	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2070850	DDB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46728800-46745600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:46728800-46745600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:46739600-46741800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:46739800-46742000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:46739800-46745600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:46740000-46742400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:46740200-46744400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:46740200-46745600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:46740200-46745600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:46740400-46745600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:46740600-46742800	Active TSS	Liver	Liver
12	chr11:46740800-46741800	Bivalent/Poised TSS	HepG2	liver
13	chr11:46741000-46742000	Enhancers	A549	lung
14	chr11:46741000-46742400	Weak transcription	Stomach Mucosa	stomach
15	chr11:46741400-46741600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:46741400-46744600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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