Variant report

Variant	rs549035140
Chromosome Location	chr18:45456940-45456941
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	chr18:45456206-45458143	K562	blood:	n/a	n/a
2	NR3C1	chr18:45456522-45456942	ECC-1	luminal epithelium:	n/a	chr18:45456777-45456791 chr18:45456773-45456794 chr18:45456811-45456824
3	GABPA	chr18:45456469-45457802	SK-N-SH	brain:	n/a	chr18:45456508-45456517 chr18:45457697-45457711 chr18:45456994-45457003 chr18:45457448-45457457
4	TEAD4	chr18:45456406-45456967	ECC-1	luminal epithelium:	n/a	n/a
5	CCNT2	chr18:45456398-45458354	K562	blood:	n/a	chr18:45456627-45456636 chr18:45456508-45456517
6	ZEB1	chr18:45456405-45456970	GM12878	blood:	n/a	chr18:45456725-45456734
7	POLR2A	chr18:45456413-45458569	NB4	blood:	n/a	n/a
8	ELF1	chr18:45456600-45456970	MCF-7	breast:	n/a	n/a
9	YY1	chr18:45456408-45456997	ECC-1	luminal epithelium:	n/a	chr18:45456667-45456678 chr18:45456625-45456636 chr18:45456502-45456516 chr18:45456528-45456539 chr18:45456508-45456517
10	USF1	chr18:45456421-45456987	HCT-116	colon:	n/a	chr18:45456647-45456658
11	NR3C1	chr18:45456466-45457043	A549	lung:	n/a	chr18:45456777-45456791 chr18:45456773-45456794 chr18:45456811-45456824
12	SIN3A	chr18:45455970-45458510	H1-hESC	embryonic stem cell:	n/a	chr18:45456992-45457005
13	PML	chr18:45456209-45457087	GM12878	blood:	n/a	n/a
14	MAX	chr18:45456251-45458188	HepG2	liver:	n/a	chr18:45457863-45457873 chr18:45457862-45457873 chr18:45457862-45457873 chr18:45457861-45457874 chr18:45457862-45457872
15	MAX	chr18:45456385-45458222	HCT-116	colon:	n/a	chr18:45457863-45457873 chr18:45457862-45457873 chr18:45457862-45457873 chr18:45457861-45457874 chr18:45457862-45457872
16	HCFC1	chr18:45456535-45458436	K562	blood:	n/a	n/a
17	ZNF143	chr18:45456347-45458478	GM12878	blood:	n/a	chr18:45456503-45456513 chr18:45457274-45457284 chr18:45456993-45457003
18	IRF1	chr18:45456767-45458437	K562	blood:	n/a	chr18:45457614-45457628 chr18:45457802-45457816
19	TBL1XR1	chr18:45456093-45457052	K562	blood:	n/a	n/a
20	CREB1	chr18:45456286-45458221	HepG2	liver:	n/a	n/a
21	HEY1	chr18:45456184-45458004	HepG2	liver:	n/a	chr18:45457438-45457453 chr18:45457436-45457451
22	MAZ	chr18:45456087-45458461	K562	blood:	n/a	chr18:45457862-45457873 chr18:45457862-45457873 chr18:45457861-45457874 chr18:45457862-45457872
23	POLR2A	chr18:45454367-45459190	MCF10A-Er-Src	breast:	n/a	n/a
24	JUND	chr18:45456227-45458157	A549	lung:	n/a	chr18:45457609-45457618 chr18:45456617-45456625 chr18:45457619-45457628 chr18:45457535-45457544 chr18:45457366-45457375 chr18:45457309-45457318
25	MAX	chr18:45456297-45458478	HepG2	liver:	n/a	chr18:45457863-45457873 chr18:45457862-45457873 chr18:45457862-45457873 chr18:45457861-45457874 chr18:45457862-45457872
26	POLR2A	chr18:45456386-45458067	A549	lung:	n/a	n/a
27	EP300	chr18:45456610-45457027	SK-N-SH_RA	brain:	n/a	chr18:45456630-45456646 chr18:45456848-45456862 chr18:45456994-45457003
28	POLR2A	chr18:45456382-45458052	GM12878	blood:	n/a	n/a
29	POLR2A	chr18:45455632-45459226	MCF10A-Er-Src	breast:	n/a	n/a
30	TCF12	chr18:45456207-45458189	ECC-1	luminal epithelium:	n/a	n/a
31	RELA	chr18:45456153-45458434	GM15510	blood:	n/a	chr18:45456318-45456327 chr18:45456318-45456327
32	POLR2A	chr18:45456544-45456980	SK-N-SH	brain:	n/a	n/a
33	NFIC	chr18:45456546-45457065	GM12878	blood:	n/a	n/a
34	JUND	chr18:45456001-45458467	K562	blood:	n/a	chr18:45457609-45457618 chr18:45456617-45456625 chr18:45457619-45457628 chr18:45457535-45457544 chr18:45457366-45457375 chr18:45457309-45457318
35	USF1	chr18:45456453-45456946	SK-N-SH_RA	brain:	n/a	chr18:45456647-45456658
36	CHD2	chr18:45456053-45458413	Hela-S3	cervix:	n/a	chr18:45457449-45457459 chr18:45457438-45457448
37	SPI1	chr18:45456579-45457034	GM12891	blood:	n/a	chr18:45456853-45456862 chr18:45456791-45456798
38	ZEB1	chr18:45456675-45456942	GM12878	blood:	n/a	chr18:45456725-45456734
39	JUND	chr18:45456623-45456952	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr18:45456177-45457974	K562	blood:	n/a	n/a
41	NR3C1	chr18:45456504-45457025	A549	lung:	n/a	chr18:45456777-45456791 chr18:45456773-45456794 chr18:45456811-45456824
42	POLR2A	chr18:45456209-45458371	Raji	blood:	n/a	n/a
43	RAD21	chr18:45456743-45456943	SK-N-SH_RA	brain:	n/a	n/a
44	POLR2A	chr18:45456147-45458207	GM12892	blood:	n/a	n/a
45	POLR2A	chr18:45456340-45458198	PFSK-1	brain:	n/a	n/a
46	MAX	chr18:45456210-45458385	HepG2	liver:	n/a	chr18:45457863-45457873 chr18:45457862-45457873 chr18:45457862-45457873 chr18:45457861-45457874 chr18:45457862-45457872
47	SP1	chr18:45456255-45457130	H1-hESC	embryonic stem cell:	n/a	chr18:45456748-45456760 chr18:45456621-45456631 chr18:45456749-45456758 chr18:45456506-45456518 chr18:45456508-45456517 chr18:45456506-45456518 chr18:45456627-45456641 chr18:45456748-45456760 chr18:45456507-45456516 chr18:45457003-45457017 chr18:45456507-45456517
48	EP300	chr18:45456403-45457344	SK-N-SH	brain:	n/a	chr18:45457257-45457266 chr18:45456582-45456598 chr18:45456630-45456646 chr18:45456848-45456862 chr18:45456994-45457003 chr18:45457241-45457257
49	STAT5A	chr18:45456496-45456992	GM12878	blood:	n/a	chr18:45456820-45456832
50	UBTF	chr18:45456203-45458373	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:45422809..45427886-chr18:45455832..45459212,8	MCF-7	breast:
2	chr18:45445551..45451271-chr18:45453158..45456977,7	K562	blood:
3	chr18:45456757..45457626-chr7:72971855..72972461,2	HCT-116	colon:
4	chr18:45412211..45417305-chr18:45454331..45458060,5	MCF-7	breast:
5	chr18:45419311..45422107-chr18:45455091..45458226,3	K562	blood:
6	chr18:12947543..12948398-chr18:45456615..45457403,2	Hela-S3	cervix:
7	chr18:45455170..45457899-chr18:45935970..45938603,2	K562	blood:
8	chr18:45456531..45457380-chr7:86781200..86781715,2	Hela-S3	cervix:
9	chr16:75285017..75285662-chr18:45456350..45457311,2	Hela-S3	cervix:
10	chr18:45423054..45427118-chr18:45456865..45459520,4	MCF-7	breast:

Variant related genes	Relation type
SMAD2	TF binding region
ENSG00000135164	Chromatin interaction
ENSG00000085415	Chromatin interaction
ENSG00000224046	Chromatin interaction
ENSG00000050820	Chromatin interaction
ENSG00000184828	Chromatin interaction
ENSG00000106635	Chromatin interaction
ENSG00000175387	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909614	chr18:45419421-45478490	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv909615	chr18:45452321-45493026	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv3446751	chr18:45455904-45459152	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45453600-45458200	Active TSS	GM12878-XiMat	blood
2	chr18:45454600-45458000	Active TSS	Ovary	ovary
3	chr18:45454600-45458200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr18:45454600-45458400	Active TSS	H1 Cell Line	embryonic stem cell
5	chr18:45454600-45458400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:45454600-45458600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:45454600-45458600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr18:45454800-45457800	Active TSS	Hela-S3	cervix
9	chr18:45454800-45458000	Active TSS	HMEC	breast
10	chr18:45454800-45458200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr18:45454800-45458200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr18:45454800-45458200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr18:45454800-45458200	Active TSS	Stomach Smooth Muscle	stomach
14	chr18:45454800-45458400	Active TSS	NHLF	lung
15	chr18:45454800-45458600	Active TSS	K562	blood
16	chr18:45455000-45457800	Active TSS	Primary T cells fromperipheralblood	blood
17	chr18:45455000-45458000	Active TSS	A549	lung
18	chr18:45455000-45458200	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr18:45455000-45458200	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr18:45455000-45458200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr18:45455000-45458200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr18:45455000-45458200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr18:45455000-45458400	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr18:45455000-45458600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr18:45455000-45458600	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr18:45455200-45457800	Active TSS	Fetal Thymus	thymus
27	chr18:45455200-45457800	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr18:45455200-45457800	Active TSS	Thymus	Thymus
29	chr18:45455200-45458000	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr18:45455200-45458000	Active TSS	HepG2	liver
31	chr18:45455200-45458200	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr18:45455200-45458200	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr18:45455200-45458200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr18:45455200-45458200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr18:45455200-45458200	Active TSS	Colon Smooth Muscle	Colon
36	chr18:45455200-45458200	Active TSS	Right Ventricle	heart
37	chr18:45455200-45458200	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr18:45455200-45458400	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr18:45455200-45458400	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr18:45455200-45458600	Active TSS	Fetal Kidney	kidney
41	chr18:45455400-45457800	Active TSS	Fetal Muscle Leg	muscle
42	chr18:45455400-45458000	Active TSS	Fetal Intestine Large	intestine
43	chr18:45455600-45458000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr18:45455600-45458000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr18:45455600-45458200	Active TSS	NHDF-Ad	bronchial
46	chr18:45455600-45458400	Active TSS	HSMMtube	muscle
47	chr18:45455800-45457000	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr18:45455800-45457800	Active TSS	Fetal Muscle Trunk	muscle
49	chr18:45455800-45457800	Active TSS	Placenta	Placenta
50	chr18:45455800-45457800	Active TSS	Fetal Stomach	stomach

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