Variant report

Variant	rs7802944
Chromosome Location	chr7:7478644-7478645
allele	A/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	CBX3	chr7:7478342-7479021	HCT-116	colon:	n/a	n/a
2	ELK4	chr7:7478478-7478936	Hela-S3	cervix:	n/a	n/a
3	USF2	chr7:7478599-7478817	Hela-S3	cervix:	n/a	n/a
4	EP300	chr7:7478264-7479024	A549	lung:	n/a	n/a
5	MXI1	chr7:7478340-7479195	IMR90	lung:	n/a	n/a
6	EP300	chr7:7478571-7478935	SK-N-SH_RA	brain:	n/a	n/a
7	FOSL2	chr7:7478327-7479132	SK-N-SH	brain:	n/a	chr7:7478707-7478715 chr7:7478705-7478716
8	CEBPB	chr7:7478405-7479121	HCT-116	colon:	n/a	n/a
9	ATF3	chr7:7478333-7478974	A549	lung:	n/a	n/a
10	RCOR1	chr7:7478526-7478918	Hela-S3	cervix:	n/a	n/a
11	FOSL2	chr7:7478535-7478870	HepG2	liver:	n/a	chr7:7478707-7478715 chr7:7478705-7478716
12	EP300	chr7:7478603-7478915	SK-N-SH_RA	brain:	n/a	n/a
13	FOSL2	chr7:7478181-7479139	A549	lung:	n/a	chr7:7478707-7478715 chr7:7478705-7478716
14	CBX3	chr7:7478353-7479081	HCT-116	colon:	n/a	n/a
15	TCF12	chr7:7478289-7479676	SK-N-SH	brain:	n/a	n/a
16	FOS	chr7:7478443-7478937	MCF10A-Er-Src	breast:	n/a	chr7:7478707-7478715 chr7:7478705-7478716 chr7:7478705-7478716
17	CTCF	chr7:7478640-7478790	BJ	skin:	n/a	n/a
18	JUND	chr7:7478518-7479046	A549	lung:	n/a	chr7:7478705-7478716 chr7:7478707-7478715 chr7:7478705-7478716
19	STAT3	chr7:7478502-7478838	Hela-S3	cervix:	n/a	n/a
20	USF1	chr7:7478427-7478824	A549	lung:	n/a	n/a
21	STAT3	chr7:7478484-7478999	MCF10A-Er-Src	breast:	n/a	n/a
22	CEBPB	chr7:7478474-7478949	A549	lung:	n/a	n/a
23	GATA2	chr7:7478351-7478978	HUVEC	blood vessel:	n/a	chr7:7478705-7478714
24	TEAD4	chr7:7478358-7478851	A549	lung:	n/a	n/a
25	MYC	chr7:7478459-7478937	MCF10A-Er-Src	breast:	n/a	chr7:7478707-7478716
26	YY1	chr7:7478584-7478932	HCT-116	colon:	n/a	n/a
27	CEBPB	chr7:7478008-7479033	IMR90	lung:	n/a	n/a
28	FOXA1	chr7:7478449-7478692	HepG2	liver:	n/a	chr7:7478596-7478608
29	GATA3	chr7:7478260-7479207	A549	lung:	n/a	chr7:7478705-7478714
30	SP1	chr7:7478254-7479086	A549	lung:	n/a	n/a
31	ELK1	chr7:7478513-7478864	Hela-S3	cervix:	n/a	n/a
32	GTF2F1	chr7:7478457-7478912	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr7:7478442-7478892	Hela-S3	cervix:	n/a	n/a
34	REST	chr7:7478292-7478963	A549	lung:	n/a	n/a
35	PBX3	chr7:7478335-7479016	SK-N-SH	brain:	n/a	n/a
36	CHD2	chr7:7478517-7478893	Hela-S3	cervix:	n/a	n/a
37	FOXA2	chr7:7478330-7478966	A549	lung:	n/a	chr7:7478596-7478608
38	FOSL1	chr7:7478332-7479171	HCT-116	colon:	n/a	chr7:7478707-7478715 chr7:7478705-7478716
39	USF1	chr7:7478424-7478895	A549	lung:	n/a	n/a
40	FOXA1	chr7:7478331-7478792	T-47D	breast:	n/a	chr7:7478596-7478608
41	RAD21	chr7:7478478-7478892	A549	lung:	n/a	n/a
42	MAX	chr7:7478444-7478984	SK-N-SH	brain:	n/a	chr7:7478707-7478716
43	STAT3	chr7:7478459-7478800	MCF10A-Er-Src	breast:	n/a	n/a
44	RAD21	chr7:7478445-7479002	A549	lung:	n/a	n/a
45	TCF7L2	chr7:7478642-7478840	MCF-7	breast:	n/a	n/a
46	EP300	chr7:7478315-7479039	SK-N-SH	brain:	n/a	n/a
47	E2F4	chr7:7478558-7478975	MCF10A-Er-Src	breast:	n/a	n/a
48	CEBPB	chr7:7478329-7479033	A549	lung:	n/a	n/a
49	FOS	chr7:7478413-7479072	HUVEC	blood vessel:	n/a	chr7:7478707-7478715 chr7:7478705-7478716 chr7:7478705-7478716
50	TEAD4	chr7:7478262-7479027	A549	lung:	n/a	n/a

Variant related genes	Relation type
COL28A1	TF binding region

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10486172	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11975449	0.92[CEU][hapmap];0.87[GIH][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs17167528	0.91[ASN][1000 genomes]
rs17167618	0.88[CHB][hapmap];0.94[CHD][hapmap];0.97[ASN][1000 genomes]
rs17167926	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17168103	1.00[ASN][1000 genomes]
rs17168311	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28490326	1.00[ASN][1000 genomes]
rs4035103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4035105	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4503020	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58336356	1.00[ASN][1000 genomes]
rs58681001	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6946354	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964593	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs73334139	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7787580	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs7791808	0.88[CHB][hapmap]
rs7807860	0.82[EUR][1000 genomes]
rs929541	1.00[ASN][1000 genomes]
rs974320	0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers 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	58 gene(s)	inside rSNPs	diseases
2	nsv869091	chr7:6927461-7567820	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1032813	chr7:7053923-7497484	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	42 gene(s)	inside rSNPs	diseases
5	nsv1030246	chr7:7053923-7569633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers 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	54 gene(s)	inside rSNPs	diseases
7	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription 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	54 gene(s)	inside rSNPs	diseases
8	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	esv2758102	chr7:7209911-7493901	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription 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 target site	33 gene(s)	inside rSNPs	diseases
10	esv2759505	chr7:7209911-7493901	Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv887470	chr7:7310023-7655094	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv606039	chr7:7317590-7497676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1020988	chr7:7348251-7497484	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers 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 target site	39 gene(s)	inside rSNPs	diseases
15	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
16	nsv1020181	chr7:7448657-7484862	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv606043	chr7:7473563-7571420	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7464600-7480200	Weak transcription	Aorta	Aorta
2	chr7:7467200-7478800	Weak transcription	Ovary	ovary
3	chr7:7468400-7484400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:7469600-7478800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:7474400-7483200	Weak transcription	Fetal Kidney	kidney
6	chr7:7474600-7478800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:7477000-7480000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:7477000-7480200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:7477400-7479800	Enhancers	NHEK	skin
10	chr7:7477600-7479600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:7477600-7480200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:7477800-7480000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:7478000-7479000	Enhancers	Liver	Liver
14	chr7:7478000-7479600	Enhancers	HSMM	muscle
15	chr7:7478000-7479600	Enhancers	HUVEC	blood vessel
16	chr7:7478000-7479800	Enhancers	HMEC	breast
17	chr7:7478000-7479800	Enhancers	NHLF	lung
18	chr7:7478000-7479800	Enhancers	Osteobl	bone
19	chr7:7478000-7480000	Enhancers	NHDF-Ad	bronchial
20	chr7:7478200-7478800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:7478200-7479400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:7478400-7478800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:7478400-7479000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr7:7478400-7479000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:7478400-7479000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr7:7478400-7479000	Enhancers	Hela-S3	cervix
27	chr7:7478400-7479000	Enhancers	HSMMtube	muscle
28	chr7:7478400-7479600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:7478400-7479600	Enhancers	NH-A	brain
30	chr7:7478600-7479000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:7478600-7479000	Enhancers	Gastric	stomach
32	chr7:7478600-7479000	Genic enhancers	Pancreas	Pancrea
33	chr7:7478600-7479200	Flanking Active TSS	A549	lung

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