Variant report

Variant	rs6033876
Chromosome Location	chr20:1459246-1459247
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	FOSL1	chr20:1459016-1459799	HCT-116	colon:	n/a	chr20:1459387-1459395
2	POLR2A	chr20:1458700-1459721	MCF10A-Er-Src	breast:	n/a	n/a
3	JUND	chr20:1459109-1459718	HCT-116	colon:	n/a	chr20:1459387-1459395
4	FOS	chr20:1459181-1459585	MCF10A-Er-Src	breast:	n/a	chr20:1459394-1459405 chr20:1459387-1459395
5	STAT3	chr20:1459202-1459515	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr20:1458859-1459649	MCF10A-Er-Src	breast:	n/a	chr20:1459394-1459405 chr20:1459387-1459395
7	FOSL1	chr20:1459091-1459680	HCT-116	colon:	n/a	chr20:1459387-1459395
8	SP1	chr20:1458970-1459763	HCT-116	colon:	n/a	n/a
9	FOS	chr20:1459192-1459590	MCF10A-Er-Src	breast:	n/a	chr20:1459394-1459405 chr20:1459387-1459395
10	MAX	chr20:1459234-1459523	Hela-S3	cervix:	n/a	n/a
11	MYC	chr20:1459183-1459622	MCF10A-Er-Src	breast:	n/a	n/a
12	CEBPB	chr20:1459057-1459708	HCT-116	colon:	n/a	n/a
13	FOSL2	chr20:1459245-1459598	MCF-7	breast:	n/a	chr20:1459387-1459395
14	FOSL2	chr20:1459201-1459561	A549	lung:	n/a	chr20:1459387-1459395
15	STAT3	chr20:1459208-1459585	MCF10A-Er-Src	breast:	n/a	n/a
16	FOSL2	chr20:1459208-1459658	SK-N-SH	brain:	n/a	chr20:1459387-1459395
17	E2F4	chr20:1459183-1459486	MCF10A-Er-Src	breast:	n/a	n/a
18	CEBPB	chr20:1459212-1459497	A549	lung:	n/a	n/a
19	JUND	chr20:1459229-1459644	SK-N-SH	brain:	n/a	chr20:1459387-1459395
20	FOS	chr20:1459156-1459703	HUVEC	blood vessel:	n/a	chr20:1459394-1459405 chr20:1459387-1459395
21	POLR2A	chr20:1459037-1459665	HUVEC	blood vessel:	n/a	n/a
22	CEBPB	chr20:1459190-1459556	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr20:1459191-1459547	IMR90	lung:	n/a	n/a
24	FOSL2	chr20:1459071-1459656	A549	lung:	n/a	chr20:1459387-1459395
25	JUND	chr20:1459054-1459767	HCT-116	colon:	n/a	chr20:1459387-1459395
26	MYC	chr20:1459186-1459630	MCF10A-Er-Src	breast:	n/a	n/a
27	CEBPB	chr20:1459087-1459616	A549	lung:	n/a	n/a
28	JUND	chr20:1459186-1459587	Hela-S3	cervix:	n/a	chr20:1459387-1459395
29	FOS	chr20:1458784-1459624	MCF10A-Er-Src	breast:	n/a	chr20:1459394-1459405 chr20:1459387-1459395

No.	Distal block	Cell Line	Cell type
1	chr20:1304948..1307524-chr20:1457412..1459794,2	K562	blood:
2	chr20:1453660..1455951-chr20:1456787..1459781,2	K562	blood:
3	chr20:1457689..1459554-chr20:1461112..1463860,2	K562	blood:
4	chr20:1459193..1460384-chr20:1484138..1484789,4	MCF-7	breast:

Variant related genes	Relation type
NSFL1C	TF binding region
ENSG00000125775	Chromatin interaction
ENSG00000234684	Chromatin interaction
ENSG00000088833	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6033904	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6042566	0.89[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6042668	1.00[EUR][1000 genomes]
rs6042694	0.88[EUR][1000 genomes]
rs6105249	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6110210	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6110218	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6110254	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73567340	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522008	chr20:1340390-1638578	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv585206	chr20:1386473-1714362	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv1850632	chr20:1393861-1465597	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv833893	chr20:1414615-1527779	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1454200-1460800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:1454400-1460400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr20:1454400-1460600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr20:1454400-1460600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr20:1455600-1461600	Enhancers	Placenta	Placenta
6	chr20:1456200-1460400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr20:1457400-1460800	Strong transcription	Spleen	Spleen
8	chr20:1458000-1459400	Flanking Active TSS	HMEC	breast
9	chr20:1458200-1459600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr20:1458400-1459400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr20:1458600-1459400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr20:1458600-1459400	Flanking Active TSS	NHEK	skin
13	chr20:1458800-1460000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr20:1458800-1460000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr20:1458800-1460400	Enhancers	Hela-S3	cervix
16	chr20:1458800-1460800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr20:1459000-1459400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr20:1459000-1459600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr20:1459000-1459600	Flanking Active TSS	A549	lung
20	chr20:1459000-1459800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr20:1459000-1459800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr20:1459000-1459800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr20:1459000-1459800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr20:1459000-1459800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr20:1459000-1460000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr20:1459000-1460000	Enhancers	HUVEC	blood vessel
27	chr20:1459000-1460000	Enhancers	NH-A	brain
28	chr20:1459000-1460000	Enhancers	Osteobl	bone
29	chr20:1459000-1460200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr20:1459000-1460200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr20:1459200-1459600	Weak transcription	Esophagus	oesophagus
32	chr20:1459200-1459600	Enhancers	NHLF	lung
33	chr20:1459200-1459800	Weak transcription	Lung	lung
34	chr20:1459200-1460000	Enhancers	HSMM	muscle
35	chr20:1459200-1460400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr20:1459200-1463600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
37	chr20:1459200-1464400	Genic enhancers	Monocytes-CD14+_RO01746	blood

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