Variant report

Variant	rs548396162
Chromosome Location	chr1:79789080-79789081
allele	C/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	MYC	chr1:79788931-79789190	Hela-S3	cervix:	n/a	n/a
2	GATA3	chr1:79788954-79789333	A549	lung:	n/a	chr1:79789179-79789188
3	FOS	chr1:79788486-79789625	MCF10A-Er-Src	breast:	n/a	chr1:79789179-79789190 chr1:79789178-79789187 chr1:79789178-79789185
4	FOSL2	chr1:79788838-79789401	MCF-7	breast:	n/a	chr1:79789179-79789190 chr1:79789178-79789187 chr1:79789178-79789185
5	STAT3	chr1:79788867-79789334	MCF10A-Er-Src	breast:	n/a	chr1:79789164-79789172
6	SP1	chr1:79788833-79789405	A549	lung:	n/a	n/a
7	GATA3	chr1:79788219-79789429	SK-N-SH	brain:	n/a	chr1:79789366-79789373 chr1:79789366-79789373 chr1:79789365-79789375 chr1:79789179-79789188 chr1:79789366-79789373 chr1:79789363-79789373 chr1:79788389-79788406 chr1:79789366-79789375 chr1:79789359-79789380 chr1:79789367-79789384
8	FOSL2	chr1:79788902-79789328	MCF-7	breast:	n/a	chr1:79789179-79789190 chr1:79789178-79789187 chr1:79789178-79789185
9	CEBPB	chr1:79788610-79789531	Hela-S3	cervix:	n/a	chr1:79789162-79789173
10	POLR2A	chr1:79788824-79789341	SK-N-SH	brain:	n/a	n/a
11	CEBPB	chr1:79788903-79789381	HCT-116	colon:	n/a	chr1:79789162-79789173
12	CEBPB	chr1:79788875-79789455	ECC-1	luminal epithelium:	n/a	chr1:79789162-79789173
13	JUND	chr1:79789063-79789303	HepG2	liver:	n/a	chr1:79789179-79789190 chr1:79789176-79789187 chr1:79789178-79789187 chr1:79789178-79789185 chr1:79789131-79789142
14	FOS	chr1:79788846-79789362	Hela-S3	cervix:	n/a	chr1:79789179-79789190 chr1:79789178-79789187 chr1:79789178-79789185
15	TCF12	chr1:79788655-79789478	SK-N-SH	brain:	n/a	n/a
16	JUND	chr1:79788686-79789511	SK-N-SH	brain:	n/a	chr1:79789179-79789190 chr1:79789176-79789187 chr1:79789178-79789187 chr1:79789178-79789185 chr1:79789131-79789142
17	SIN3AK20	chr1:79788918-79789080	PFSK-1	brain:	n/a	n/a
18	GATA3	chr1:79788203-79789523	SK-N-SH	brain:	n/a	chr1:79789366-79789373 chr1:79789366-79789373 chr1:79789365-79789375 chr1:79789179-79789188 chr1:79789366-79789373 chr1:79789363-79789373 chr1:79788389-79788406 chr1:79789366-79789375 chr1:79789359-79789380 chr1:79789367-79789384
19	USF1	chr1:79788903-79789130	SK-N-SH_RA	brain:	n/a	n/a
20	MAFK	chr1:79788829-79789451	Hela-S3	cervix:	n/a	n/a
21	SIN3AK20	chr1:79788712-79789340	MCF-7	breast:	n/a	n/a
22	FOS	chr1:79788788-79789568	MCF10A-Er-Src	breast:	n/a	chr1:79789179-79789190 chr1:79789178-79789187 chr1:79789178-79789185
23	EP300	chr1:79788708-79789422	Hela-S3	cervix:	n/a	chr1:79789178-79789187
24	CEBPB	chr1:79788982-79789346	HepG2	liver:	n/a	chr1:79789162-79789173
25	FOSL2	chr1:79788840-79789362	A549	lung:	n/a	chr1:79789179-79789190 chr1:79789178-79789187 chr1:79789178-79789185
26	FOSL1	chr1:79788860-79789435	HCT-116	colon:	n/a	chr1:79789179-79789190 chr1:79789178-79789187 chr1:79789178-79789185
27	MAX	chr1:79788774-79789389	A549	lung:	n/a	n/a
28	MAX	chr1:79788837-79789304	SK-N-SH	brain:	n/a	n/a
29	USF1	chr1:79788869-79789306	ECC-1	luminal epithelium:	n/a	n/a
30	TCF7L2	chr1:79788900-79789344	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr1:79788939-79789305	MCF-7	breast:	n/a	chr1:79789162-79789173
32	MYC	chr1:79788591-79789335	MCF10A-Er-Src	breast:	n/a	n/a
33	FOSL2	chr1:79788732-79789521	SK-N-SH	brain:	n/a	chr1:79789179-79789190 chr1:79789178-79789187 chr1:79789178-79789185
34	TEAD4	chr1:79788864-79789306	A549	lung:	n/a	n/a
35	JUND	chr1:79788686-79789508	SK-N-SH	brain:	n/a	chr1:79789179-79789190 chr1:79789176-79789187 chr1:79789178-79789187 chr1:79789178-79789185 chr1:79789131-79789142
36	TEAD4	chr1:79788829-79789419	ECC-1	luminal epithelium:	n/a	n/a
37	FOS	chr1:79788748-79789605	MCF10A-Er-Src	breast:	n/a	chr1:79789179-79789190 chr1:79789178-79789187 chr1:79789178-79789185
38	CEBPB	chr1:79788914-79789431	MCF-7	breast:	n/a	chr1:79789162-79789173
39	FOSL1	chr1:79788814-79789408	HCT-116	colon:	n/a	chr1:79789179-79789190 chr1:79789178-79789187 chr1:79789178-79789185
40	JUND	chr1:79788859-79789356	A549	lung:	n/a	chr1:79789179-79789190 chr1:79789176-79789187 chr1:79789178-79789187 chr1:79789178-79789185 chr1:79789131-79789142
41	MAFK	chr1:79788577-79789362	IMR90	lung:	n/a	n/a
42	STAT3	chr1:79788739-79789421	Hela-S3	cervix:	n/a	chr1:79789164-79789172
43	MAX	chr1:79788774-79789329	A549	lung:	n/a	n/a
44	USF2	chr1:79788834-79789372	Hela-S3	cervix:	n/a	chr1:79789029-79789040
45	CEBPB	chr1:79788783-79789533	HCT-116	colon:	n/a	chr1:79789162-79789173
46	USF1	chr1:79788914-79789288	A549	lung:	n/a	n/a
47	CEBPB	chr1:79788912-79789364	ECC-1	luminal epithelium:	n/a	chr1:79789162-79789173
48	SETDB1	chr1:79788933-79789287	U2OS	brain:	n/a	n/a
49	EP300	chr1:79788716-79789534	SK-N-SH	brain:	n/a	chr1:79789178-79789187
50	MAX	chr1:79788820-79789286	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000235011	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv871182	chr1:79614989-79822735	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv870657	chr1:79701220-79890774	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv870962	chr1:79755185-79835066	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3364783	chr1:79786074-79815088	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	esv3384616	chr1:79788134-79814492	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79788000-79789800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:79788000-79789800	Enhancers	NHDF-Ad	bronchial
3	chr1:79788200-79789600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:79788200-79789600	Enhancers	Hela-S3	cervix
5	chr1:79788200-79790000	Enhancers	NHLF	lung
6	chr1:79788400-79789600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:79788400-79789600	Enhancers	Osteobl	bone
8	chr1:79788400-79789800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:79788400-79789800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:79788400-79789800	Enhancers	HMEC	breast
11	chr1:79788600-79789600	Enhancers	NHEK	skin
12	chr1:79788600-79789800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:79788600-79789800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:79788800-79789400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:79788800-79789400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:79788800-79789600	Active TSS	A549	lung
17	chr1:79788800-79789800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:79788800-79789800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:79788800-79789800	Enhancers	Placenta	Placenta
20	chr1:79789000-79789200	Enhancers	NH-A	brain
21	chr1:79789000-79789600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:79789000-79789800	Enhancers	Muscle Satellite Cultured Cells	--

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