Variant report

Variant	rs16978539
Chromosome Location	chr18:43902115-43902116
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr18:43902104-43902309	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr18:43901744-43902996	Hela-S3	cervix:	n/a	n/a
3	NFIC	chr18:43900811-43903258	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr18:43901827-43903244	ECC-1	luminal epithelium:	n/a	n/a
5	EP300	chr18:43900895-43902899	Hela-S3	cervix:	n/a	chr18:43902509-43902519
6	MAX	chr18:43901960-43902722	H1-hESC	embryonic stem cell:	n/a	n/a
7	TCF7L2	chr18:43900845-43903216	Hela-S3	cervix:	n/a	n/a
8	RFX5	chr18:43900994-43903189	Hela-S3	cervix:	n/a	chr18:43901978-43901986
9	GTF2F1	chr18:43902027-43902172	H1-hESC	embryonic stem cell:	n/a	n/a
10	ESR1	chr18:43901850-43902257	ECC-1	luminal epithelium:	n/a	chr18:43901870-43901887
11	TAF1	chr18:43901934-43902790	Hela-S3	cervix:	n/a	n/a
12	NFIC	chr18:43901837-43903071	ECC-1	luminal epithelium:	n/a	n/a
13	E2F6	chr18:43901930-43902409	H1-hESC	embryonic stem cell:	n/a	n/a
14	FOS	chr18:43901880-43902384	MCF10A-Er-Src	breast:	n/a	n/a
15	TFAP2A	chr18:43901869-43902816	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr18:43901243-43903279	Hela-S3	cervix:	n/a	n/a
17	MAFK	chr18:43900898-43903121	Hela-S3	cervix:	n/a	chr18:43902885-43902896
18	MAX	chr18:43901901-43902869	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr18:43901281-43903185	Hela-S3	cervix:	n/a	n/a
20	FOS	chr18:43900557-43902617	MCF10A-Er-Src	breast:	n/a	n/a
21	JUND	chr18:43901024-43902849	Hela-S3	cervix:	n/a	n/a
22	STAT3	chr18:43900707-43902513	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr18:43902085-43902216	H1-hESC	embryonic stem cell:	n/a	n/a
24	ZNF143	chr18:43901959-43902287	H1-hESC	embryonic stem cell:	n/a	n/a
25	GTF2F1	chr18:43900725-43903165	Hela-S3	cervix:	n/a	n/a
26	TFAP2C	chr18:43901775-43902796	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr18:43901731-43903278	Hela-S3	cervix:	n/a	n/a
28	RAD21	chr18:43901033-43902933	Hela-S3	cervix:	n/a	n/a
29	STAT3	chr18:43900607-43902538	MCF10A-Er-Src	breast:	n/a	n/a
30	MYC	chr18:43902113-43902642	MCF10A-Er-Src	breast:	n/a	n/a
31	ZNF143	chr18:43901940-43902780	Hela-S3	cervix:	n/a	n/a
32	MAZ	chr18:43901082-43902835	Hela-S3	cervix:	n/a	n/a
33	MYC	chr18:43901951-43902950	Hela-S3	cervix:	n/a	n/a
34	EP300	chr18:43900922-43903247	ECC-1	luminal epithelium:	n/a	chr18:43902509-43902519
35	SMC3	chr18:43900405-43903189	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr18:43901090-43903282	Hela-S3	cervix:	n/a	n/a
37	ZKSCAN1	chr18:43901975-43903260	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr18:43901921-43902121	MCF10A-Er-Src	breast:	n/a	n/a
39	BRCA1	chr18:43900967-43902922	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr18:43901769-43902740	ECC-1	luminal epithelium:	n/a	n/a
41	MAX	chr18:43900782-43903189	Hela-S3	cervix:	n/a	n/a
42	TCF12	chr18:43901785-43903013	ECC-1	luminal epithelium:	n/a	n/a
43	TEAD4	chr18:43901720-43903325	ECC-1	luminal epithelium:	n/a	n/a
44	CEBPB	chr18:43901046-43903088	Hela-S3	cervix:	n/a	chr18:43901518-43901529
45	MAX	chr18:43901898-43902957	ECC-1	luminal epithelium:	n/a	n/a
46	RCOR1	chr18:43900747-43903221	Hela-S3	cervix:	n/a	n/a
47	TCF12	chr18:43900979-43903258	ECC-1	luminal epithelium:	n/a	n/a
48	USF2	chr18:43901327-43903337	Hela-S3	cervix:	n/a	n/a
49	E2F6	chr18:43901843-43902948	H1-hESC	embryonic stem cell:	n/a	n/a
50	TBP	chr18:43900959-43903014	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:43901494..43904052-chr18:43904430..43906842,2	MCF-7	breast:
2	chr18:43752736..43755546-chr18:43899946..43902823,2	MCF-7	breast:
3	chr18:43899871..43902503-chr18:43913524..43916220,2	MCF-7	breast:
4	chr18:43895014..43896765-chr18:43901404..43904086,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNF165	TF binding region
ENSG00000141622	Chromatin interaction
ENSG00000152242	Chromatin interaction

rs_ID	r²[population]
rs60440611	0.87[AMR][1000 genomes]
rs8098503	1.00[AMR][1000 genomes]

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43899800-43905000	Enhancers	HMEC	breast
2	chr18:43900000-43902200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr18:43900000-43903400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:43900200-43903200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:43900400-43902200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr18:43900600-43902800	Enhancers	Osteobl	bone
7	chr18:43900800-43902200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr18:43900800-43902600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr18:43900800-43903200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr18:43900800-43903200	Enhancers	NH-A	brain
11	chr18:43901200-43902200	Weak transcription	A549	lung
12	chr18:43901200-43903200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr18:43901200-43905600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr18:43901400-43902200	Enhancers	Fetal Lung	lung
15	chr18:43901400-43903200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr18:43901600-43902800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr18:43901600-43902800	Flanking Active TSS	NHEK	skin
18	chr18:43901600-43903200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr18:43901600-43903200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr18:43901600-43903400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr18:43901600-43903600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr18:43901600-43903600	Flanking Active TSS	Hela-S3	cervix
23	chr18:43901800-43902200	Enhancers	Psoas Muscle	Psoas
24	chr18:43901800-43902400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr18:43901800-43902400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr18:43901800-43902800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr18:43901800-43903000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr18:43901800-43903200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr18:43901800-43903200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:43901800-43903200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr18:43901800-43903200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr18:43901800-43903400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr18:43901800-43903400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr18:43901800-43903800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr18:43901800-43904200	Weak transcription	K562	blood
36	chr18:43902000-43902800	Enhancers	Esophagus	oesophagus

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