Variant report

Variant	rs73656477
Chromosome Location	chr9:115875126-115875127
allele	G/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	FOS	chr9:115874849-115875225	MCF10A-Er-Src	breast:	n/a	chr9:115875035-115875044 chr9:115875036-115875045 chr9:115875035-115875045
2	FOXP2	chr9:115875108-115875383	PFSK-1	brain:	n/a	n/a
3	CTCF	chr9:115875020-115875170	HUVEC	blood vessel:	n/a	n/a
4	CTCF	chr9:115875000-115875150	A549	lung:	n/a	n/a
5	CTCF	chr9:115874791-115875279	HCT-116	colon:	n/a	n/a
6	CTCF	chr9:115875040-115875190	BE2_C	brain:	n/a	n/a
7	ZNF143	chr9:115875122-115875339	GM12878	blood:	n/a	n/a
8	CTCF	chr9:115875040-115875190	Caco-2	colon:	n/a	n/a
9	CTCF	chr9:115875090-115875435	Gliobla	brain:	n/a	chr9:115875291-115875309 chr9:115875292-115875308 chr9:115875294-115875307 chr9:115875294-115875307
10	CTCF	chr9:115875078-115875463	GM12891	blood:	n/a	chr9:115875291-115875309 chr9:115875292-115875308 chr9:115875294-115875307 chr9:115875294-115875307
11	CTCF	chr9:115875040-115875190	WERI-Rb-1	eye:	n/a	n/a
12	MYC	chr9:115874867-115875206	MCF10A-Er-Src	breast:	n/a	n/a
13	CTCF	chr9:115875040-115875190	HMEC	breast:	n/a	n/a
14	CTCF	chr9:115875040-115875190	NHDF-neo	bronchial:	n/a	n/a
15	JUND	chr9:115875076-115875486	A549	lung:	n/a	n/a
16	NFIC	chr9:115874918-115875276	ECC-1	luminal epithelium:	n/a	chr9:115875047-115875063
17	PAX5	chr9:115875031-115875429	GM12878	blood:	n/a	n/a
18	CTCF	chr9:115875020-115875170	HMF	breast:	n/a	n/a
19	CTCF	chr9:115875040-115875190	HUVEC	blood vessel:	n/a	n/a
20	RAD21	chr9:115875000-115875257	ECC-1	luminal epithelium:	n/a	chr9:115875086-115875095
21	CTCF	chr9:115875074-115875441	GM19238	blood:	n/a	chr9:115875291-115875309 chr9:115875292-115875308 chr9:115875294-115875307 chr9:115875294-115875307
22	CTCF	chr9:115875040-115875190	HPF	lung:	n/a	n/a
23	CTCF	chr9:115875020-115875170	HRE	kidney:	n/a	n/a
24	CTCF	chr9:115875083-115875428	LNCaP	prostate:	n/a	chr9:115875291-115875309 chr9:115875292-115875308 chr9:115875294-115875307 chr9:115875294-115875307
25	FOSL2	chr9:115875055-115875489	HepG2	liver:	n/a	n/a
26	CTCF	chr9:115875040-115875190	BJ	skin:	n/a	n/a
27	CTCF	chr9:115875040-115875190	HMF	breast:	n/a	n/a
28	CTCF	chr9:115875020-115875170	NHLF	lung:	n/a	n/a
29	RAD21	chr9:115875106-115875359	H1-hESC	embryonic stem cell:	n/a	chr9:115875295-115875308 chr9:115875293-115875307 chr9:115875292-115875311
30	POLR2A	chr9:115875022-115875501	SK-N-MC	brain:	n/a	n/a
31	RAD21	chr9:115874972-115875257	HepG2	liver:	n/a	chr9:115875086-115875095
32	CTCF	chr9:115875020-115875170	GM12871	blood:	n/a	n/a
33	STAT3	chr9:115874866-115875231	MCF10A-Er-Src	breast:	n/a	n/a
34	CTCF	chr9:115875110-115875393	HepG2	liver:	n/a	chr9:115875291-115875309 chr9:115875292-115875308 chr9:115875294-115875307 chr9:115875294-115875307
35	CTCF	chr9:115875020-115875170	HCT-116	colon:	n/a	n/a
36	CTCF	chr9:115875078-115875362	IMR90	lung:	n/a	chr9:115875291-115875309 chr9:115875292-115875308 chr9:115875294-115875307 chr9:115875294-115875307
37	CTCF	chr9:115875020-115875170	GM12869	blood:	n/a	n/a
38	CTCF	chr9:115875017-115875213	HepG2	liver:	n/a	n/a
39	CTCF	chr9:115875040-115875190	HAc	cerebellar:	n/a	n/a
40	CTCF	chr9:115875097-115875408	ProgFib	skin:	n/a	chr9:115875291-115875309 chr9:115875292-115875308 chr9:115875294-115875307 chr9:115875294-115875307
41	POLR2A	chr9:115875095-115875429	GM12891	blood:	n/a	n/a
42	CTCF	chr9:115875040-115875190	GM12874	blood:	n/a	n/a
43	CTCF	chr9:115875020-115875170	RPTEC	kidney:	n/a	n/a
44	JUND	chr9:115874904-115875255	HepG2	liver:	n/a	chr9:115875034-115875045 chr9:115875035-115875044 chr9:115875036-115875045 chr9:115875035-115875045
45	CTCF	chr9:115875040-115875190	NHEK	skin:	n/a	n/a
46	CTCF	chr9:115875020-115875170	HPF	lung:	n/a	n/a
47	CTCF	chr9:115875020-115875170	AG10803	skin:	n/a	n/a
48	CTCF	chr9:115875000-115875150	HCFaa	heart:	n/a	n/a
49	CEBPB	chr9:115875081-115875193	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr9:115875000-115875150	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:115875112-115875162	K562	blood:	n/a
2	chr9:115875112-115875162	SKMC	muscle:	n/a
3	chr9:115875112-115875162	HMEC	breast:	n/a
4	chr9:115875112-115875162	NHDF-neo	bronchial:	n/a
5	chr9:115875112-115875162	LNCaP	prostate:	n/a
6	chr9:115875112-115875162	CMK	blood:	n/a
7	chr9:115875112-115875162	HUVEC	blood vessel:	n/a
8	chr9:115875112-115875162	GM12892	blood:	n/a
9	chr9:115875112-115875162	NB4	blood:	n/a
10	chr9:115875112-115875162	PANC-1	pancreas:	n/a
11	chr9:115875112-115875162	HL-60	blood:	n/a
12	chr9:115875112-115875162	IMR90	lung:	fetal
13	chr9:115875112-115875162	HRE	kidney:	n/a
14	chr9:115875112-115875162	HEEpiC	esophagus:	n/a
15	chr9:115875112-115875162	HCF	heart:	n/a
16	chr9:115875112-115875162	NH-A	brain:	n/a
17	chr9:115875112-115875162	ovcar-3	ovarian:	n/a
18	chr9:115875112-115875162	SAEC	small airway:	n/a
19	chr9:115875112-115875162	MCF10A-Er-Src	breast:	n/a
20	chr9:115875112-115875162	Hepatocyte	liver:	n/a
21	chr9:115875112-115875162	MCF-7	breast:	n/a
22	chr9:115875112-115875162	ECC-1	luminal epithelium:	n/a
23	chr9:115875112-115875162	AG04450	lung:	fetal
24	chr9:115875112-115875162	HRPEpiC	eye:	n/a
25	chr9:115875112-115875162	PrEC	prostate:	n/a
26	chr9:115875112-115875162	ProgFib	skin:	n/a
27	chr9:115875112-115875162	AG09309	skin:	n/a
28	chr9:115875112-115875162	AG04449	skin:	fetal
29	chr9:115875112-115875162	HIPEpiC	eye:	n/a
30	chr9:115875112-115875162	GM19239	blood:	n/a
31	chr9:115875112-115875162	HRCEpiC	kidney:	n/a
32	chr9:115875112-115875162	A549	lung:	n/a
33	chr9:115875112-115875162	Caco-2	colon:	n/a
34	chr9:115875112-115875162	AoSMC	blood vessel:	n/a
35	chr9:115875112-115875162	T-47D	breast:	n/a
36	chr9:115875112-115875162	HCPEpiC	choroid plexus:	n/a
37	chr9:115875112-115875162	HEK293	kidney:	embryo
38	chr9:115875112-115875162	HepG2	liver:	n/a
39	chr9:115875112-115875162	BE2_C	brain:	n/a
40	chr9:115875112-115875162	HAEpiC	amniotic membrane:	n/a
41	chr9:115875112-115875162	NHBE	bronchial:	n/a
42	chr9:115875112-115875162	H1-hESC	embryonic stem cell:	embryo
43	chr9:115875112-115875162	HPAEpiC	pulmonary alveolar:	n/a
44	chr9:115875112-115875162	BJ	skin:	n/a
45	chr9:115875112-115875162	Hela-S3	cervix:	n/a
46	chr9:115875112-115875162	Jurkat	blood:	n/a
47	chr9:115875112-115875162	RPTEC	kidney:	n/a
48	chr9:115875112-115875162	GM12878	blood:	n/a
49	chr9:115875112-115875162	NT2-D1	testis:	n/a
50	chr9:115875112-115875162	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:115872624..115875532-chr9:115912017..115913734,2	MCF-7	breast:

Variant related genes	Relation type
FAM225A	TF binding region
FAM225B	TF binding region
FAM225B	CpG island
FAM225A	CpG island
ENSG00000136867	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs56402922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57009422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58413434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58865859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60562897	1.00[AFR][1000 genomes]
rs61154558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61698623	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73655804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73655805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73655806	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73656472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73656473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73656474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73656475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73656476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1047000	chr9:115610445-115884038	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv831691	chr9:115754699-115929459	Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv825051	chr9:115811606-115882022	ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv825052	chr9:115811634-115882048	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv893734	chr9:115815398-115891009	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv2757353	chr9:115815398-115892245	ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv2753302	chr9:115819870-115888112	ZNF genes & repeats Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	nsv893735	chr9:115821854-115891009	ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv893736	chr9:115852715-115891009	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv893737	chr9:115852715-115893229	Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv893738	chr9:115852715-115894240	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1046217	chr9:115854339-115881588	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1042807	chr9:115854339-115883741	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1040513	chr9:115854339-115885060	Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv442164	chr9:115854351-115883753	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	esv2761253	chr9:115854351-115885060	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv893739	chr9:115859223-115891009	Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv893740	chr9:115860251-115891009	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv893741	chr9:115862518-115891009	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv893742	chr9:115867276-115910991	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
24	nsv893743	chr9:115867276-115917783	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115874000-115875200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:115874000-115875200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr9:115874000-115875200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr9:115874000-115875200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:115874000-115875200	Enhancers	Brain Hippocampus Middle	brain
6	chr9:115874000-115875200	Enhancers	HMEC	breast
7	chr9:115874000-115875200	Enhancers	HSMM	muscle
8	chr9:115874200-115875200	Enhancers	Adipose Nuclei	Adipose
9	chr9:115874400-115875200	Enhancers	Osteobl	bone
10	chr9:115874800-115875200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:115874800-115875200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr9:115874800-115875200	Enhancers	Brain Anterior Caudate	brain
13	chr9:115874800-115875200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr9:115875000-115875200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr9:115875000-115875200	Enhancers	Colon Smooth Muscle	Colon
16	chr9:115875000-115875200	Enhancers	NH-A	brain

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