Variant report

Variant	rs28675351
Chromosome Location	chr8:47751993-47751994
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr8:47751530-47752792	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr8:47751617-47752862	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr8:47751609-47752772	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr8:47751603-47752777	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr8:47751610-47752762	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr8:47751690-47752756	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr8:47751595-47752956	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr8:47751563-47752787	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr8:47751711-47752845	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr8:47751600-47752785	MCF10A-Er-Src	breast:	n/a	n/a
11	MYC	chr8:47751653-47752901	MCF10A-Er-Src	breast:	n/a	n/a
12	MYC	chr8:47751711-47752843	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:47751953-47752003	HAEpiC	amniotic membrane:	n/a
2	chr8:47751953-47752003	Caco-2	colon:	n/a
3	chr8:47751953-47752003	RPTEC	kidney:	n/a
4	chr8:47751953-47752003	BE2_C	brain:	n/a
5	chr8:47751953-47752003	AG10803	skin:	n/a
6	chr8:47751953-47752003	NB4	blood:	n/a
7	chr8:47751953-47752003	HRCEpiC	kidney:	n/a
8	chr8:47751953-47752003	GM12878	blood:	n/a
9	chr8:47751953-47752003	A549	lung:	n/a
10	chr8:47751953-47752003	Hepatocyte	liver:	n/a
11	chr8:47751953-47752003	U87	brain:	n/a
12	chr8:47751953-47752003	SK-N-MC	brain:	n/a
13	chr8:47751953-47752003	AoSMC	blood vessel:	n/a
14	chr8:47751953-47752003	GM12891	blood:	n/a
15	chr8:47751953-47752003	HNPCEpiC	eye:	n/a
16	chr8:47751953-47752003	MCF10A-Er-Src	breast:	n/a
17	chr8:47751953-47752003	SKMC	muscle:	n/a
18	chr8:47751953-47752003	HPAEpiC	pulmonary alveolar:	n/a
19	chr8:47751953-47752003	SK-N-SH	brain:	n/a
20	chr8:47751953-47752003	HCF	heart:	n/a
21	chr8:47751953-47752003	AG04450	lung:	fetal
22	chr8:47751953-47752003	PANC-1	pancreas:	n/a
23	chr8:47751953-47752003	HCT-116	colon:	n/a
24	chr8:47751953-47752003	AG09309	skin:	n/a
25	chr8:47751953-47752003	HIPEpiC	eye:	n/a
26	chr8:47751953-47752003	NHDF-neo	bronchial:	n/a
27	chr8:47751953-47752003	HCM	heart:	n/a
28	chr8:47751953-47752003	T-47D	breast:	n/a
29	chr8:47751953-47752003	LNCaP	prostate:	n/a
30	chr8:47751953-47752003	GM12892	blood:	n/a
31	chr8:47751953-47752003	AG09319	gingival:	n/a
32	chr8:47751953-47752003	PrEC	prostate:	n/a
33	chr8:47751953-47752003	PFSK-1	brain:	n/a
34	chr8:47751953-47752003	HUVEC	blood vessel:	n/a
35	chr8:47751953-47752003	NH-A	brain:	n/a
36	chr8:47751953-47752003	BJ	skin:	n/a
37	chr8:47751953-47752003	Jurkat	blood:	n/a
38	chr8:47751953-47752003	Hela-S3	cervix:	n/a
39	chr8:47751953-47752003	HEK293	kidney:	embryo
40	chr8:47751953-47752003	HepG2	liver:	n/a
41	chr8:47751953-47752003	GM06990	blood:	n/a
42	chr8:47751953-47752003	K562	blood:	n/a
43	chr8:47751953-47752003	HCPEpiC	choroid plexus:	n/a
44	chr8:47751953-47752003	NT2-D1	testis:	n/a
45	chr8:47751953-47752003	MCF-7	breast:	n/a
46	chr8:47751953-47752003	GM19239	blood:	n/a
47	chr8:47751953-47752003	IMR90	lung:	fetal
48	chr8:47751953-47752003	HEEpiC	esophagus:	n/a
49	chr8:47751953-47752003	HMEC	breast:	n/a
50	chr8:47751953-47752003	SAEC	small airway:	n/a

No data

Variant related genes	Relation type
ENSG00000254118	TF binding region
LINC00293	TF binding region
ENSG00000254118	CpG island
LINC00293	CpG island

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10088551	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10088950	1.00[ASN][1000 genomes]
rs10092655	1.00[ASN][1000 genomes]
rs10102108	1.00[ASN][1000 genomes]
rs10103064	0.81[ASN][1000 genomes]
rs10108882	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10108987	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10283148	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10504057	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11989394	0.81[ASN][1000 genomes]
rs13439168	1.00[ASN][1000 genomes]
rs1380564	1.00[ASN][1000 genomes]
rs17061062	0.81[ASN][1000 genomes]
rs17061727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17061734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17061737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17061739	1.00[ASN][1000 genomes]
rs17358217	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17363370	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1916187	0.81[ASN][1000 genomes]
rs2085745	0.81[ASN][1000 genomes]
rs28617668	1.00[ASN][1000 genomes]
rs28757576	1.00[ASN][1000 genomes]
rs4872662	0.81[ASN][1000 genomes]
rs4872997	0.81[ASN][1000 genomes]
rs73574938	0.81[ASN][1000 genomes]
rs73576846	1.00[ASN][1000 genomes]
rs7825145	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835054	0.81[ASN][1000 genomes]
rs930944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs930945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs930946	0.81[ASN][1000 genomes]
rs9657357	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018479	chr8:46847522-47776897	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv916550	chr8:46942962-47863337	Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1016829	chr8:47083849-47982647	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv465669	chr8:47105157-47947701	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv611241	chr8:47105157-47947701	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv948803	chr8:47190621-47939976	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1025638	chr8:47361534-48176434	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv530881	chr8:47456285-48129198	Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv1020467	chr8:47456484-48174712	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	nsv539589	chr8:47456484-48174712	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
11	nsv869142	chr8:47456485-47982673	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv1028036	chr8:47531749-48256108	Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	nsv1019289	chr8:47536056-48251883	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
14	nsv539591	chr8:47536056-48251883	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
15	nsv1016400	chr8:47555136-47797723	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv1032030	chr8:47555136-47823661	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	nsv530882	chr8:47620846-48223868	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
18	nsv971304	chr8:47695933-47777473	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
20	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
21	nsv1028897	chr8:47722290-47801967	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
22	esv20376	chr8:47725589-47775860	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv1034185	chr8:47727123-47767022	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
24	esv18993	chr8:47750282-47776338	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
25	esv988312	chr8:47750639-47776253	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
26	esv14844	chr8:47750734-47804607	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
27	nsv1016571	chr8:47751577-47797723	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
28	nsv1016486	chr8:47751577-47812554	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
29	nsv1026167	chr8:47751577-47952612	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47751400-47752000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
2	chr8:47751400-47753800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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