Variant report

Variant	rs11792932
Chromosome Location	chr9:22216701-22216702
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TFAP2A	chr9:22216602-22217570	Hela-S3	cervix:	n/a	chr9:22217013-22217028
2	GTF2F1	chr9:22216579-22217676	Hela-S3	cervix:	n/a	n/a
3	SMC3	chr9:22216408-22217509	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr9:22216672-22217630	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr9:22216692-22217283	Hela-S3	cervix:	n/a	n/a
6	MAX	chr9:22216646-22217337	HCT-116	colon:	n/a	n/a
7	TFAP2C	chr9:22216609-22217634	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr9:22216557-22217677	Hela-S3	cervix:	n/a	n/a
9	RCOR1	chr9:22216668-22217565	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr9:22216683-22217343	Hela-S3	cervix:	n/a	n/a
11	MAX	chr9:22216664-22217540	Hela-S3	cervix:	n/a	n/a
12	TCF7L2	chr9:22216665-22217610	Hela-S3	cervix:	n/a	n/a
13	TCF7L2	chr9:22216673-22217648	HCT-116	colon:	n/a	n/a
14	ZKSCAN1	chr9:22216433-22217413	Hela-S3	cervix:	n/a	n/a
15	RFX5	chr9:22216372-22217359	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr9:22216687-22217349	HCT-116	colon:	n/a	n/a
17	CBX3	chr9:22216699-22217249	HCT-116	colon:	n/a	n/a
18	RAD21	chr9:22216551-22217597	Hela-S3	cervix:	n/a	n/a
19	ZNF143	chr9:22216658-22217274	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:22139628..22142458-chr9:22215449..22217635,2	MCF-7	breast:
2	chr9:22146078..22148525-chr9:22216609..22218568,2	MCF-7	breast:
3	chr9:22216075..22219047-chr9:22230410..22232299,2	MCF-7	breast:
4	chr9:22106947..22109176-chr9:22216532..22218954,2	MCF-7	breast:
5	chr9:22101148..22103535-chr9:22215387..22218852,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236921	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11788928	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11790978	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11792798	0.85[EUR][1000 genomes]
rs11792897	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12003808	0.95[EUR][1000 genomes]
rs16905769	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2025797	0.95[EUR][1000 genomes]
rs2383209	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2383212	0.90[EUR][1000 genomes]
rs2383213	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4461984	0.95[EUR][1000 genomes]
rs4592119	0.84[EUR][1000 genomes]
rs4644346	1.00[EUR][1000 genomes]
rs62555449	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62555450	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62555451	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62555452	1.00[EUR][1000 genomes]
rs62555453	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62555455	0.85[EUR][1000 genomes]
rs62559460	1.00[EUR][1000 genomes]
rs62559467	1.00[EUR][1000 genomes]
rs62559468	0.95[EUR][1000 genomes]
rs62559469	1.00[EUR][1000 genomes]
rs62559470	1.00[EUR][1000 genomes]
rs62559471	1.00[EUR][1000 genomes]
rs62559472	0.90[EUR][1000 genomes]
rs62559473	0.90[EUR][1000 genomes]
rs62559474	0.90[EUR][1000 genomes]
rs62559475	0.90[EUR][1000 genomes]
rs62559493	0.82[EUR][1000 genomes]
rs62559494	0.86[EUR][1000 genomes]
rs62559495	0.86[EUR][1000 genomes]
rs6475620	1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7035115	0.85[EUR][1000 genomes]
rs73442947	0.85[EUR][1000 genomes]
rs73444955	1.00[EUR][1000 genomes]
rs736723	0.85[EUR][1000 genomes]
rs7848967	0.85[EUR][1000 genomes]
rs7853527	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7853566	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7859353	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7859407	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7872728	0.89[EUR][1000 genomes]
rs943399	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv531617	chr9:21985057-22809676	Genic enhancers Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv892749	chr9:22125913-22244280	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1021264	chr9:22159622-22293804	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1033789	chr9:22183150-22266091	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1029289	chr9:22193167-23023688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1016067	chr9:22210874-22432654	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1015364	chr9:22211364-22416886	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv540086	chr9:22211364-22416886	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22208600-22217200	Enhancers	HSMMtube	muscle
2	chr9:22208800-22218000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr9:22209400-22216800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:22209400-22217000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:22209400-22217600	Enhancers	NHDF-Ad	bronchial
6	chr9:22209400-22218400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:22212800-22220200	Strong transcription	A549	lung
8	chr9:22213000-22216800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:22214200-22217600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:22215200-22216800	Weak transcription	HMEC	breast
11	chr9:22215200-22216800	Weak transcription	NH-A	brain
12	chr9:22215200-22216800	Weak transcription	NHLF	lung
13	chr9:22215200-22219000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr9:22215600-22217000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:22216200-22217800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr9:22216400-22217200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr9:22216400-22218400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:22216600-22217000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr9:22216600-22217000	Enhancers	HSMM	muscle
20	chr9:22216600-22217200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr9:22216600-22217200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:22216600-22217400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:22216600-22217400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:22216600-22217400	Flanking Active TSS	Hela-S3	cervix
25	chr9:22216600-22217400	Enhancers	Osteobl	bone

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