Variant report

Variant	rs73656195
Chromosome Location	chr9:117437463-117437464
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr9:117437070-117437556	MCF10A-Er-Src	breast:	n/a	n/a
2	CTCF	chr9:117437420-117437570	HEK293	kidney:	n/a	n/a
3	CTCF	chr9:117437436-117437636	IMR90	lung:	n/a	n/a
4	CTCF	chr9:117437420-117437570	GM12875	blood:	n/a	n/a
5	STAT3	chr9:117437276-117437711	MCF10A-Er-Src	breast:	n/a	n/a
6	KAP1	chr9:117437131-117437602	U2OS	brain:	n/a	n/a
7	CTCF	chr9:117437440-117437590	GM12871	blood:	n/a	n/a
8	CTCF	chr9:117437380-117437530	AoAF	blood vessel:	n/a	n/a
9	FOS	chr9:117437140-117437632	MCF10A-Er-Src	breast:	n/a	n/a
10	CTCF	chr9:117437400-117437550	HA-sp	spinal cord:	n/a	n/a
11	POLR2A	chr9:117437450-117437774	MCF10A-Er-Src	breast:	n/a	n/a
12	CTCF	chr9:117437240-117437530	HEK293	kidney:	n/a	n/a
13	CTCF	chr9:117437460-117437610	RPTEC	kidney:	n/a	n/a
14	CTCF	chr9:117437380-117437530	AG09309	skin:	n/a	n/a
15	CTCF	chr9:117437460-117437610	HBMEC	blood vessel:	n/a	n/a
16	CTCF	chr9:117437460-117437610	HMF	breast:	n/a	n/a
17	CTCF	chr9:117437460-117437610	HRPEpiC	eye:	n/a	n/a
18	CTCF	chr9:117437420-117437570	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr9:117437400-117437550	HMF	breast:	n/a	n/a
20	FOS	chr9:117437071-117437670	MCF10A-Er-Src	breast:	n/a	n/a
21	CTCF	chr9:117437460-117437610	A549	lung:	n/a	n/a
22	CTCF	chr9:117437360-117437510	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr9:117437400-117437550	GM12868	blood:	n/a	n/a
24	CTCF	chr9:117437440-117437590	GM12873	blood:	n/a	n/a
25	CTCF	chr9:117437360-117437510	GM12864	blood:	n/a	n/a
26	CTCF	chr9:117437420-117437570	AG04450	lung:	n/a	n/a
27	CTCF	chr9:117437440-117437590	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr9:117437440-117437590	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr9:117437440-117437590	HCPEpiC	choroid plexus:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:117435966..117437962-chr9:117439308..117441299,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000230601	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10114200	0.82[ASN][1000 genomes]
rs10114857	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10982366	0.85[ASN][1000 genomes]
rs12115626	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12339835	0.84[ASN][1000 genomes]
rs16930587	0.83[ASN][1000 genomes]
rs16930593	0.83[ASN][1000 genomes]
rs16930630	0.87[ASN][1000 genomes]
rs16930732	0.92[ASN][1000 genomes]
rs16930924	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2274599	0.90[ASN][1000 genomes]
rs2296946	0.97[ASN][1000 genomes]
rs7045194	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7859495	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051544	chr9:116944940-117443031	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
2	nsv540203	chr9:116944940-117443031	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv1048093	chr9:116945025-117456210	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
4	nsv1050991	chr9:116953739-117442999	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv1046311	chr9:116953739-117447142	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS 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	157 gene(s)	inside rSNPs	diseases
6	nsv1052877	chr9:116953739-117456210	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
7	nsv1039681	chr9:116953739-117457158	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
8	nsv1051987	chr9:116955841-117453668	Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
9	nsv1044374	chr9:116955841-117460150	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
10	nsv466534	chr9:116956268-117455810	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
11	nsv615234	chr9:116956268-117455810	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
12	nsv1048817	chr9:116957958-117456210	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
13	nsv615236	chr9:116958144-117455810	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
14	nsv466535	chr9:116958144-117456175	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
15	nsv615237	chr9:116958144-117456175	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
16	nsv615238	chr9:116958144-117458475	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
17	nsv430094	chr9:116958446-117456446	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
18	nsv1053756	chr9:116975934-117443031	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
19	nsv540204	chr9:116975934-117443031	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
20	nsv530951	chr9:117032675-117439804	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
21	nsv831694	chr9:117328640-117502785	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
22	nsv893766	chr9:117385992-117516418	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	nsv1042718	chr9:117435306-117488969	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117425400-117440000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr9:117434200-117439200	Weak transcription	NH-A	brain
3	chr9:117436400-117437600	Enhancers	Osteobl	bone
4	chr9:117436600-117437800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr9:117437000-117437600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:117437200-117437600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:117437200-117439400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:117437200-117441200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr9:117437200-117441800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:117437200-117441800	Enhancers	HMEC	breast
11	chr9:117437400-117437600	Enhancers	A549	lung
12	chr9:117437400-117437800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:117437400-117437800	Enhancers	HSMM	muscle
14	chr9:117437400-117437800	Enhancers	NHDF-Ad	bronchial
15	chr9:117437400-117438000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:117437400-117438000	Enhancers	Hela-S3	cervix
17	chr9:117437400-117438000	Enhancers	HSMMtube	muscle
18	chr9:117437400-117438600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:117437400-117441800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:117437400-117442000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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