Variant report

Variant	rs67916650
Chromosome Location	chr11:103904160-103904161
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	FOXA1	chr11:103903823-103904171	HepG2	liver:	n/a	n/a
2	JUND	chr11:103904044-103904166	HepG2	liver:	n/a	chr11:103904110-103904119
3	SP1	chr11:103903717-103904333	A549	lung:	n/a	chr11:103904101-103904122
4	TCF12	chr11:103903763-103904327	SK-N-SH	brain:	n/a	chr11:103904002-103904010
5	FOS	chr11:103903901-103904201	MCF10A-Er-Src	breast:	n/a	chr11:103904110-103904119
6	FOSL2	chr11:103903926-103904196	A549	lung:	n/a	chr11:103904110-103904119
7	FOXA2	chr11:103903570-103904242	HepG2	liver:	n/a	n/a
8	TCF12	chr11:103903660-103904355	A549	lung:	n/a	chr11:103904002-103904010
9	CEBPB	chr11:103903827-103904196	A549	lung:	n/a	chr11:103904011-103904022
10	CEBPB	chr11:103903808-103904278	A549	lung:	n/a	chr11:103904011-103904022
11	HNF4A	chr11:103903817-103904188	HepG2	liver:	n/a	n/a
12	EP300	chr11:103903676-103904304	A549	lung:	n/a	chr11:103903987-103903997
13	TEAD4	chr11:103903730-103904243	HepG2	liver:	n/a	n/a
14	RFX5	chr11:103903881-103904249	Hela-S3	cervix:	n/a	chr11:103904111-103904120
15	CEBPB	chr11:103903821-103904213	IMR90	lung:	n/a	chr11:103904011-103904022
16	FOSL2	chr11:103903770-103904309	A549	lung:	n/a	chr11:103904110-103904119
17	FOS	chr11:103903826-103904229	MCF10A-Er-Src	breast:	n/a	chr11:103904110-103904119
18	GATA3	chr11:103903655-103904363	A549	lung:	n/a	chr11:103904022-103904033
19	CEBPB	chr11:103903857-103904182	HepG2	liver:	n/a	chr11:103904011-103904022
20	NFIC	chr11:103903702-103904304	SK-N-SH	brain:	n/a	n/a
21	MAX	chr11:103903862-103904284	A549	lung:	n/a	n/a
22	FOS	chr11:103903915-103904236	MCF10A-Er-Src	breast:	n/a	chr11:103904110-103904119
23	NR3C1	chr11:103903898-103904163	A549	lung:	n/a	chr11:103904149-103904156
24	CEBPB	chr11:103903821-103904208	Hela-S3	cervix:	n/a	chr11:103904011-103904022
25	E2F4	chr11:103903826-103904195	MCF10A-Er-Src	breast:	n/a	n/a
26	TEAD4	chr11:103903709-103904205	A549	lung:	n/a	n/a
27	FOXA2	chr11:103903712-103904285	A549	lung:	n/a	n/a
28	MYC	chr11:103903945-103904190	MCF10A-Er-Src	breast:	n/a	n/a
29	NR3C1	chr11:103903883-103904164	A549	lung:	n/a	chr11:103904149-103904156
30	NR3C1	chr11:103903868-103904173	A549	lung:	n/a	chr11:103904149-103904156
31	RFX5	chr11:103903913-103904240	HepG2	liver:	n/a	chr11:103904111-103904120
32	STAT3	chr11:103903948-103904175	MCF10A-Er-Src	breast:	n/a	n/a
33	REST	chr11:103903803-103904177	A549	lung:	n/a	n/a
34	FOS	chr11:103903851-103904257	MCF10A-Er-Src	breast:	n/a	chr11:103904110-103904119
35	MAFF	chr11:103903971-103904223	HepG2	liver:	n/a	n/a
36	MAX	chr11:103903878-103904195	A549	lung:	n/a	n/a
37	TCF12	chr11:103903885-103904166	A549	lung:	n/a	chr11:103904002-103904010
38	RFX5	chr11:103903673-103904870	SK-N-SH	brain:	n/a	chr11:103904111-103904120
39	SP1	chr11:103903831-103904335	A549	lung:	n/a	chr11:103904101-103904122
40	STAT3	chr11:103903881-103904197	MCF10A-Er-Src	breast:	n/a	n/a
41	PBX3	chr11:103903931-103904327	SK-N-SH	brain:	n/a	chr11:103904111-103904120
42	CEBPB	chr11:103903830-103904208	HepG2	liver:	n/a	chr11:103904011-103904022
43	STAT3	chr11:103903823-103904261	MCF10A-Er-Src	breast:	n/a	n/a
44	MYC	chr11:103903940-103904226	MCF10A-Er-Src	breast:	n/a	n/a
45	FOXA1	chr11:103903669-103904274	HepG2	liver:	n/a	n/a
46	EP300	chr11:103903766-103904294	A549	lung:	n/a	chr11:103903987-103903997
47	EP300	chr11:103903883-103904195	SK-N-SH_RA	brain:	n/a	chr11:103903987-103903997
48	FOXA2	chr11:103903752-103904165	A549	lung:	n/a	n/a
49	CEBPB	chr11:103903684-103904346	A549	lung:	n/a	chr11:103904011-103904022
50	FOXA1	chr11:103903891-103904181	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
DDI1	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10502024	0.98[EUR][1000 genomes]
rs11226115	0.98[EUR][1000 genomes]
rs11226118	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11226120	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12284324	0.96[EUR][1000 genomes]
rs17421481	0.98[EUR][1000 genomes]
rs17422079	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67790686	0.96[EUR][1000 genomes]
rs7930466	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2750977	chr11:103082558-103924790	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv948974	chr11:103082558-103932207	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2760322	chr11:103760085-104374141	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1051448	chr11:103864766-104274112	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv541157	chr11:103864766-104274112	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1043976	chr11:103881236-104526403	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer 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 miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:103889400-103907000	Weak transcription	Pancreas	Pancrea
2	chr11:103896600-103914000	Weak transcription	Gastric	stomach
3	chr11:103897000-103909600	Weak transcription	Aorta	Aorta
4	chr11:103899600-103904400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:103902200-103922800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:103903400-103905400	Enhancers	Fetal Intestine Large	intestine
7	chr11:103903600-103904600	Weak transcription	Fetal Intestine Small	intestine
8	chr11:103903800-103904200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:103903800-103904600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:103904000-103904200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:103904000-103904200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:103904000-103904200	Enhancers	Left Ventricle	heart
13	chr11:103904000-103904400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:103904000-103904400	Active TSS	A549	lung
15	chr11:103904000-103904400	Enhancers	HMEC	breast
16	chr11:103904000-103904600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr11:103904000-103905000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:103904000-103905000	Enhancers	Fetal Lung	lung
19	chr11:103904000-103905400	Enhancers	Ovary	ovary
20	chr11:103904000-103906000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:103904000-103906200	Enhancers	Fetal Heart	heart

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