Variant report

Variant	rs1118572
Chromosome Location	chr20:14201022-14201023
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr20:14200940-14201090	Hela-S3	cervix:	n/a	n/a
2	JUND	chr20:14200659-14201072	A549	lung:	n/a	n/a
3	HDAC2	chr20:14200675-14201209	MCF-7	breast:	n/a	n/a
4	SP1	chr20:14200529-14201210	A549	lung:	n/a	n/a
5	FOXA2	chr20:14200556-14201183	A549	lung:	n/a	n/a
6	MAX	chr20:14200852-14201082	Hela-S3	cervix:	n/a	n/a
7	SP1	chr20:14200447-14201251	A549	lung:	n/a	n/a
8	JUND	chr20:14200695-14201271	MCF-7	breast:	n/a	n/a
9	EP300	chr20:14200725-14201060	Hela-S3	cervix:	n/a	n/a
10	NR3C1	chr20:14200618-14201040	A549	lung:	n/a	n/a
11	BACH1	chr20:14200766-14201092	H1-hESC	embryonic stem cell:	n/a	n/a
12	GATA3	chr20:14200871-14201229	MCF-7	breast:	n/a	chr20:14201116-14201124
13	FOSL2	chr20:14200615-14201277	A549	lung:	n/a	n/a
14	TFAP2A	chr20:14200795-14201303	Hela-S3	cervix:	n/a	n/a
15	GATA3	chr20:14200497-14201506	MCF-7	breast:	n/a	chr20:14201116-14201124
16	EP300	chr20:14200557-14201252	A549	lung:	n/a	n/a
17	NR3C1	chr20:14200644-14201063	A549	lung:	n/a	n/a
18	KAP1	chr20:14200784-14201265	U2OS	brain:	n/a	n/a
19	SMC3	chr20:14200692-14201203	Hela-S3	cervix:	n/a	n/a
20	TFAP2C	chr20:14200777-14201401	Hela-S3	cervix:	n/a	n/a
21	GATA3	chr20:14200623-14201347	MCF-7	breast:	n/a	chr20:14201116-14201124
22	FOXA2	chr20:14200555-14201216	A549	lung:	n/a	n/a
23	RFX5	chr20:14200858-14201182	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr20:14200940-14201090	HEK293	kidney:	n/a	n/a
25	MAZ	chr20:14200947-14201201	Hela-S3	cervix:	n/a	n/a
26	ELF1	chr20:14200776-14201247	MCF-7	breast:	n/a	n/a
27	NR2F2	chr20:14200590-14201294	MCF-7	breast:	n/a	n/a
28	RAD21	chr20:14200846-14201209	Hela-S3	cervix:	n/a	n/a
29	JUND	chr20:14200657-14201134	A549	lung:	n/a	n/a
30	NR3C1	chr20:14200679-14201077	A549	lung:	n/a	n/a
31	SETDB1	chr20:14200646-14201086	U2OS	brain:	n/a	n/a
32	CHD2	chr20:14200780-14201180	Hela-S3	cervix:	n/a	n/a
33	ZNF217	chr20:14200500-14201329	MCF-7	breast:	n/a	n/a
34	CEBPB	chr20:14200842-14201173	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr20:14200951-14201108	A549	lung:	n/a	n/a
36	TCF7L2	chr20:14200771-14201163	MCF-7	breast:	n/a	n/a
37	POLR2A	chr20:14200930-14201070	A549	lung:	n/a	n/a
38	FOS	chr20:14200839-14201043	MCF10A-Er-Src	breast:	n/a	n/a
39	FOSL2	chr20:14200696-14201161	MCF-7	breast:	n/a	n/a
40	MAFK	chr20:14200773-14201094	H1-hESC	embryonic stem cell:	n/a	n/a
41	NR3C1	chr20:14200582-14201086	A549	lung:	n/a	n/a
42	SIN3AK20	chr20:14200467-14201408	MCF-7	breast:	n/a	n/a
43	FOS	chr20:14200786-14201032	MCF10A-Er-Src	breast:	n/a	n/a
44	MYC	chr20:14200833-14201055	MCF-7	breast:	n/a	n/a
45	TCF12	chr20:14200488-14201465	A549	lung:	n/a	n/a
46	NR2F2	chr20:14200602-14201362	MCF-7	breast:	n/a	n/a
47	NR3C1	chr20:14200507-14201170	A549	lung:	n/a	n/a
48	TBP	chr20:14200969-14201240	Hela-S3	cervix:	n/a	n/a
49	FOSL2	chr20:14200788-14201075	A549	lung:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:14199868..14203458-chr20:14204053..14207149,3	MCF-7	breast:

No data

Variant related genes	Relation type
RN7SL864P	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1033860	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1120243	1.00[YRI][hapmap]
rs1980702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs204623	1.00[AMR][1000 genomes]
rs204624	1.00[AMR][1000 genomes]
rs2327828	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2423771	1.00[AMR][1000 genomes]
rs2423776	1.00[AMR][1000 genomes]
rs3121496	1.00[AMR][1000 genomes]
rs3848782	1.00[YRI][hapmap]
rs3909059	1.00[YRI][hapmap]
rs3909060	1.00[YRI][hapmap]
rs3936951	1.00[YRI][hapmap]
rs4814280	1.00[YRI][hapmap]
rs4814281	1.00[YRI][hapmap]
rs4814286	1.00[YRI][hapmap]
rs6033874	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6033875	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6033900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6042481	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6042482	1.00[AMR][1000 genomes]
rs6042504	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6042540	1.00[AMR][1000 genomes]
rs6042546	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6042587	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6074691	1.00[YRI][hapmap]
rs6079320	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6079343	1.00[AMR][1000 genomes]
rs6079347	1.00[AMR][1000 genomes]
rs6079348	1.00[AMR][1000 genomes]
rs6105218	1.00[YRI][hapmap]
rs927564	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv531479	chr20:13632491-14434432	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1057486	chr20:14077828-14469129	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv532514	chr20:14097780-14288315	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1066235	chr20:14173771-14389050	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv458872	chr20:14189779-14317390	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv470540	chr20:14189779-14317390	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv585439	chr20:14189779-14317390	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14200200-14201200	Flanking Active TSS	A549	lung
2	chr20:14200200-14201400	Enhancers	Fetal Heart	heart
3	chr20:14200200-14201800	Enhancers	Fetal Intestine Large	intestine
4	chr20:14200200-14202200	Enhancers	HMEC	breast
5	chr20:14200400-14201200	Enhancers	Stomach Mucosa	stomach
6	chr20:14200400-14201200	Flanking Active TSS	Hela-S3	cervix
7	chr20:14200400-14201400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr20:14200400-14201400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr20:14200400-14201400	Enhancers	Esophagus	oesophagus
10	chr20:14200400-14201600	Enhancers	NHEK	skin
11	chr20:14200400-14201800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr20:14200400-14201800	Enhancers	Fetal Intestine Small	intestine
13	chr20:14200400-14202400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr20:14200400-14203200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr20:14200400-14204000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr20:14200600-14201400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr20:14200600-14201600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr20:14200600-14201600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr20:14200600-14202200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr20:14200600-14205000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr20:14200800-14201200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr20:14200800-14201400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr20:14200800-14206600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr20:14201000-14201200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr20:14201000-14201400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr20:14201000-14201400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr20:14201000-14201600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr20:14201000-14204600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr20:14201000-14206200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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