Variant report

Variant	rs74120961
Chromosome Location	chr1:168553076-168553077
allele	A/G
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	POLR2A	chr1:168551218-168553226	PFSK-1	brain:	n/a	n/a
2	NR3C1	chr1:168552887-168553271	ECC-1	luminal epithelium:	n/a	chr1:168553043-168553052 chr1:168553044-168553053
3	FOS	chr1:168552902-168553226	MCF10A-Er-Src	breast:	n/a	chr1:168553045-168553056 chr1:168553043-168553052
4	TCF12	chr1:168552748-168553328	ECC-1	luminal epithelium:	n/a	n/a
5	FOS	chr1:168552892-168553232	MCF10A-Er-Src	breast:	n/a	chr1:168553045-168553056 chr1:168553043-168553052
6	MAX	chr1:168552626-168553219	ECC-1	luminal epithelium:	n/a	n/a
7	MYC	chr1:168552918-168553231	MCF10A-Er-Src	breast:	n/a	n/a
8	NFIC	chr1:168552673-168553405	ECC-1	luminal epithelium:	n/a	n/a
9	FOS	chr1:168552902-168553230	MCF10A-Er-Src	breast:	n/a	chr1:168553045-168553056 chr1:168553043-168553052
10	TCF12	chr1:168551990-168553490	ECC-1	luminal epithelium:	n/a	chr1:168553365-168553375
11	STAT3	chr1:168552967-168553244	MCF10A-Er-Src	breast:	n/a	chr1:168553151-168553165 chr1:168553153-168553162 chr1:168553152-168553163 chr1:168553154-168553163
12	TEAD4	chr1:168552748-168553441	ECC-1	luminal epithelium:	n/a	n/a
13	EP300	chr1:168552041-168553529	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr1:168552590-168553617	ECC-1	luminal epithelium:	n/a	chr1:168553334-168553350
15	USF1	chr1:168552716-168553195	ECC-1	luminal epithelium:	n/a	n/a
16	ESR1	chr1:168552802-168553405	ECC-1	luminal epithelium:	n/a	n/a
17	ESR1	chr1:168552783-168553251	ECC-1	luminal epithelium:	n/a	n/a
18	STAT3	chr1:168552823-168553300	MCF10A-Er-Src	breast:	n/a	chr1:168553151-168553165 chr1:168553153-168553162 chr1:168553152-168553163 chr1:168553154-168553163
19	CEBPB	chr1:168552748-168553182	ECC-1	luminal epithelium:	n/a	n/a
20	NR3C1	chr1:168552914-168553242	ECC-1	luminal epithelium:	n/a	chr1:168553043-168553052 chr1:168553044-168553053
21	TEAD4	chr1:168552778-168553359	ECC-1	luminal epithelium:	n/a	n/a
22	ESR1	chr1:168552864-168553237	ECC-1	luminal epithelium:	n/a	n/a
23	ESR1	chr1:168552788-168553341	ECC-1	luminal epithelium:	n/a	n/a
24	MYC	chr1:168552927-168553188	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr1:168552951-168553167	MCF10A-Er-Src	breast:	n/a	chr1:168553151-168553165 chr1:168553153-168553162 chr1:168553152-168553163 chr1:168553154-168553163
26	FOS	chr1:168552899-168553236	MCF10A-Er-Src	breast:	n/a	chr1:168553045-168553056 chr1:168553043-168553052
27	STAT3	chr1:168552978-168553215	MCF10A-Er-Src	breast:	n/a	chr1:168553151-168553165 chr1:168553153-168553162 chr1:168553152-168553163 chr1:168553154-168553163
28	USF1	chr1:168552659-168553226	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
ENSG00000229757	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10918889	1.00[EUR][1000 genomes]
rs10918890	1.00[EUR][1000 genomes]
rs10918891	1.00[EUR][1000 genomes]
rs10918892	1.00[EUR][1000 genomes]
rs10918893	1.00[EUR][1000 genomes]
rs10918895	1.00[EUR][1000 genomes]
rs10918896	1.00[EUR][1000 genomes]
rs10918913	1.00[EUR][1000 genomes]
rs10918914	1.00[EUR][1000 genomes]
rs10918915	1.00[EUR][1000 genomes]
rs10918916	1.00[EUR][1000 genomes]
rs10918918	1.00[EUR][1000 genomes]
rs10918929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12058640	1.00[EUR][1000 genomes]
rs12059095	1.00[EUR][1000 genomes]
rs12059526	1.00[EUR][1000 genomes]
rs12059722	1.00[EUR][1000 genomes]
rs12060094	1.00[EUR][1000 genomes]
rs12060180	1.00[EUR][1000 genomes]
rs12061311	1.00[EUR][1000 genomes]
rs12061688	1.00[EUR][1000 genomes]
rs12062599	1.00[EUR][1000 genomes]
rs12064517	1.00[EUR][1000 genomes]
rs12064716	1.00[EUR][1000 genomes]
rs12065600	1.00[EUR][1000 genomes]
rs12069600	1.00[EUR][1000 genomes]
rs12071398	1.00[EUR][1000 genomes]
rs12071533	1.00[EUR][1000 genomes]
rs12071580	1.00[EUR][1000 genomes]
rs12071946	1.00[EUR][1000 genomes]
rs12072708	1.00[EUR][1000 genomes]
rs12072756	1.00[EUR][1000 genomes]
rs12073928	1.00[EUR][1000 genomes]
rs12075383	1.00[EUR][1000 genomes]
rs12076618	1.00[EUR][1000 genomes]
rs12080560	1.00[EUR][1000 genomes]
rs12086182	1.00[EUR][1000 genomes]
rs12087491	1.00[EUR][1000 genomes]
rs12088031	1.00[EUR][1000 genomes]
rs12088109	1.00[EUR][1000 genomes]
rs12093369	1.00[EUR][1000 genomes]
rs12093899	1.00[EUR][1000 genomes]
rs12095242	1.00[EUR][1000 genomes]
rs12095394	1.00[EUR][1000 genomes]
rs12096533	1.00[EUR][1000 genomes]
rs12563551	1.00[EUR][1000 genomes]
rs1323524	1.00[EUR][1000 genomes]
rs16860744	1.00[EUR][1000 genomes]
rs16860745	1.00[EUR][1000 genomes]
rs16860750	1.00[EUR][1000 genomes]
rs16860759	1.00[EUR][1000 genomes]
rs2092400	1.00[EUR][1000 genomes]
rs58887669	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60094342	1.00[EUR][1000 genomes]
rs6674956	1.00[EUR][1000 genomes]
rs73027529	1.00[EUR][1000 genomes]
rs73031504	1.00[EUR][1000 genomes]
rs73031508	1.00[EUR][1000 genomes]
rs74120912	1.00[EUR][1000 genomes]
rs74120963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74120965	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74123943	1.00[EUR][1000 genomes]
rs74123944	1.00[EUR][1000 genomes]
rs7526174	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014626	chr1:168441288-168642731	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535196	chr1:168441288-168642731	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1011821	chr1:168441488-168642592	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv535197	chr1:168441488-168642592	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1008852	chr1:168449940-168643905	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv535198	chr1:168449940-168643905	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1007846	chr1:168449940-168687265	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv831836	chr1:168538779-168716956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription 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	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168549600-168555200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:168551200-168553400	Enhancers	Fetal Kidney	kidney
3	chr1:168551200-168555200	Enhancers	Rectal Smooth Muscle	rectum
4	chr1:168551800-168553400	Enhancers	Fetal Stomach	stomach
5	chr1:168552000-168553200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:168552000-168555600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr1:168552200-168553800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:168552400-168553200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:168552400-168553800	Weak transcription	NHLF	lung
10	chr1:168552400-168554000	Weak transcription	Fetal Heart	heart
11	chr1:168552400-168554800	Enhancers	NHEK	skin
12	chr1:168552600-168553200	Enhancers	Fetal Muscle Leg	muscle
13	chr1:168552600-168553800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:168552600-168554200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:168552600-168554400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:168552600-168554400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:168552800-168553400	Enhancers	HMEC	breast
18	chr1:168552800-168553800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:168552800-168553800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:168552800-168553800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr1:168552800-168554000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:168553000-168554200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:168553000-168554400	Weak transcription	NH-A	brain

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