Variant report

Variant	rs16872817
Chromosome Location	chr7:21657044-21657045
allele	C/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	TCF7L2	chr7:21656659-21657916	HCT-116	colon:	n/a	n/a
2	JUND	chr7:21656500-21657199	MCF-7	breast:	n/a	chr7:21656857-21656867 chr7:21656858-21656866 chr7:21656859-21656866
3	MAX	chr7:21656706-21657199	MCF-7	breast:	n/a	chr7:21656858-21656867 chr7:21656857-21656866 chr7:21656788-21656797
4	MYC	chr7:21656700-21657135	MCF10A-Er-Src	breast:	n/a	chr7:21656858-21656867 chr7:21656857-21656866 chr7:21656788-21656797
5	FOSL1	chr7:21656556-21657174	HCT-116	colon:	n/a	chr7:21656857-21656867 chr7:21656858-21656866 chr7:21656859-21656866
6	CEBPB	chr7:21656616-21657890	A549	lung:	n/a	chr7:21657146-21657159 chr7:21656787-21656800 chr7:21656788-21656799 chr7:21657673-21657684
7	GATA3	chr7:21656527-21657205	MCF-7	breast:	n/a	chr7:21656890-21656897 chr7:21656888-21656904
8	CEBPB	chr7:21656508-21658165	A549	lung:	n/a	chr7:21657146-21657159 chr7:21656787-21656800 chr7:21656788-21656799 chr7:21657673-21657684
9	NR3C1	chr7:21656719-21657058	A549	lung:	n/a	chr7:21657036-21657057
10	POLR2A	chr7:21656546-21657114	HUVEC	blood vessel:	n/a	n/a
11	TCF12	chr7:21656569-21657222	SK-N-SH	brain:	n/a	n/a
12	MXI1	chr7:21656610-21657146	Hela-S3	cervix:	n/a	n/a
13	EP300	chr7:21656610-21657123	MCF-7	breast:	n/a	chr7:21656857-21656866 chr7:21656785-21656799
14	CEBPB	chr7:21656472-21658046	Hela-S3	cervix:	n/a	chr7:21657146-21657159 chr7:21656787-21656800 chr7:21656788-21656799 chr7:21657673-21657684
15	FOSL2	chr7:21656639-21657083	A549	lung:	n/a	chr7:21656857-21656867 chr7:21656858-21656866 chr7:21656859-21656866
16	ZNF217	chr7:21656697-21657046	MCF-7	breast:	n/a	n/a
17	FOS	chr7:21656651-21657138	HUVEC	blood vessel:	n/a	chr7:21656857-21656867 chr7:21656856-21656867 chr7:21656858-21656866 chr7:21656859-21656866
18	CEBPB	chr7:21656570-21657112	MCF-7	breast:	n/a	chr7:21656787-21656800 chr7:21656788-21656799
19	EP300	chr7:21656739-21657165	ECC-1	luminal epithelium:	n/a	chr7:21656857-21656866 chr7:21656785-21656799
20	CEBPB	chr7:21656512-21657118	HCT-116	colon:	n/a	chr7:21656787-21656800 chr7:21656788-21656799
21	ELK1	chr7:21656696-21657076	Hela-S3	cervix:	n/a	n/a
22	EP300	chr7:21656448-21658164	A549	lung:	n/a	chr7:21656857-21656866 chr7:21656785-21656799
23	SP1	chr7:21656531-21657194	HCT-116	colon:	n/a	n/a
24	MAX	chr7:21656612-21657245	A549	lung:	n/a	chr7:21656858-21656867 chr7:21656857-21656866 chr7:21656788-21656797
25	GATA3	chr7:21656406-21658195	MCF-7	breast:	n/a	chr7:21656890-21656897 chr7:21656888-21656904
26	TEAD4	chr7:21656635-21657201	HCT-116	colon:	n/a	n/a
27	FOS	chr7:21656665-21657154	MCF10A-Er-Src	breast:	n/a	chr7:21656857-21656867 chr7:21656856-21656867 chr7:21656858-21656866 chr7:21656859-21656866
28	GATA3	chr7:21656546-21657121	SK-N-SH	brain:	n/a	chr7:21656890-21656897 chr7:21656888-21656904
29	SP1	chr7:21656461-21657198	A549	lung:	n/a	n/a
30	CEBPB	chr7:21656527-21658088	MCF-7	breast:	n/a	chr7:21657146-21657159 chr7:21656787-21656800 chr7:21656788-21656799 chr7:21657673-21657684
31	FOSL2	chr7:21656641-21657138	MCF-7	breast:	n/a	chr7:21656857-21656867 chr7:21656858-21656866 chr7:21656859-21656866
32	SMARCC2	chr7:21656461-21657996	Hela-S3	cervix:	n/a	n/a
33	EP300	chr7:21656456-21657139	ECC-1	luminal epithelium:	n/a	chr7:21656857-21656866 chr7:21656785-21656799
34	CEBPB	chr7:21656640-21657243	IMR90	lung:	n/a	chr7:21657146-21657159 chr7:21656787-21656800 chr7:21656788-21656799
35	NR2F2	chr7:21656590-21657101	MCF-7	breast:	n/a	n/a
36	KAP1	chr7:21656707-21657133	U2OS	brain:	n/a	n/a
37	TEAD4	chr7:21656556-21657173	A549	lung:	n/a	n/a
38	TCF7L2	chr7:21656483-21657934	Hela-S3	cervix:	n/a	n/a
39	TCF12	chr7:21656415-21658238	A549	lung:	n/a	n/a
40	TEAD4	chr7:21656687-21657119	MCF-7	breast:	n/a	n/a
41	MAX	chr7:21656655-21657166	ECC-1	luminal epithelium:	n/a	chr7:21656858-21656867 chr7:21656857-21656866 chr7:21656788-21656797
42	CEBPB	chr7:21656594-21657179	A549	lung:	n/a	chr7:21657146-21657159 chr7:21656787-21656800 chr7:21656788-21656799
43	TBP	chr7:21656522-21657108	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr7:21656593-21657072	ECC-1	luminal epithelium:	n/a	chr7:21656787-21656800 chr7:21656788-21656799
45	JUN	chr7:21656682-21657131	HUVEC	blood vessel:	n/a	chr7:21656857-21656867 chr7:21656858-21656866 chr7:21656859-21656866
46	SP1	chr7:21656538-21657231	HCT-116	colon:	n/a	n/a
47	GATA3	chr7:21656387-21658177	A549	lung:	n/a	chr7:21656890-21656897 chr7:21656888-21656904
48	MAX	chr7:21656752-21657126	Hela-S3	cervix:	n/a	chr7:21656858-21656867 chr7:21656857-21656866 chr7:21656788-21656797
49	POLR2A	chr7:21656706-21657087	HUVEC	blood vessel:	n/a	n/a
50	BRCA1	chr7:21656609-21657275	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
DNAH11	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17144776	1.00[CHB][hapmap];1.00[AMR][1000 genomes]
rs17144779	0.86[JPT][hapmap]
rs17144785	1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs72655972	0.93[AMR][1000 genomes]
rs72656001	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1023655	chr7:21486485-21727016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv538801	chr7:21486485-21727016	ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv830921	chr7:21489100-21688016	Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1030577	chr7:21548909-21681379	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1025634	chr7:21566727-21686272	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21655800-21658200	Enhancers	HUVEC	blood vessel
2	chr7:21655800-21658600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:21656200-21657600	Weak transcription	Fetal Heart	heart
4	chr7:21656200-21658200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:21656200-21658200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:21656200-21658200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:21656200-21658600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:21656400-21657200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:21656400-21658000	Enhancers	Pancreas	Pancrea
10	chr7:21656400-21658200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:21656400-21658200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:21656400-21658200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:21656400-21658200	Flanking Active TSS	A549	lung
14	chr7:21656400-21658200	Enhancers	NHEK	skin
15	chr7:21656400-21659000	Enhancers	Placenta	Placenta
16	chr7:21656400-21659000	Enhancers	HMEC	breast
17	chr7:21656600-21658000	Flanking Active TSS	Hela-S3	cervix
18	chr7:21656800-21657400	Enhancers	NHLF	lung
19	chr7:21656800-21657800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:21657000-21657400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:21657000-21657600	Flanking Active TSS	NH-A	brain
22	chr7:21657000-21658000	Enhancers	Fetal Intestine Large	intestine
23	chr7:21657000-21658200	Enhancers	HepG2	liver
24	chr7:21657000-21658200	Enhancers	NHDF-Ad	bronchial
25	chr7:21657000-21658600	Enhancers	Liver	Liver
26	chr7:21657000-21658600	Enhancers	Placenta Amnion	Placenta Amnion

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