Variant report

Variant	rs201224551
Chromosome Location	chr18:9613638-9613639
allele	-/A
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	ESR1	chr18:9613604-9613864	T-47D	breast:	n/a	n/a
2	HA-E2F1	chr18:9613585-9614148	MCF-7	breast:	n/a	chr18:9614041-9614055
3	POLR2A	chr18:9613461-9615883	HUVEC	blood vessel:	n/a	n/a
4	MAZ	chr18:9613545-9615746	K562	blood:	n/a	chr18:9614492-9614502 chr18:9615546-9615554
5	ARID3A	chr18:9613528-9613697	HepG2	liver:	n/a	n/a
6	MXI1	chr18:9611932-9615928	SK-N-SH	brain:	n/a	n/a
7	ZBTB7A	chr18:9613566-9615236	ECC-1	luminal epithelium:	n/a	chr18:9614483-9614494
8	MYC	chr18:9613574-9614267	NB4	blood:	n/a	n/a
9	POLR2A	chr18:9613578-9614286	U87	brain:	n/a	n/a
10	GTF2F1	chr18:9613638-9614028	Hela-S3	cervix:	n/a	n/a
11	ESR1	chr18:9613565-9613937	T-47D	breast:	n/a	n/a
12	RAD21	chr18:9613501-9614297	IMR90	lung:	n/a	n/a
13	POLR2A	chr18:9613542-9615772	H1-hESC	embryonic stem cell:	n/a	n/a
14	PML	chr18:9613570-9614236	GM12878	blood:	n/a	n/a
15	MXI1	chr18:9613361-9615682	IMR90	lung:	n/a	n/a
16	FOS	chr18:9613596-9613649	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr18:9613599-9615472	K562	blood:	n/a	n/a
18	CTCF	chr18:9613540-9613690	AG09319	gingival:	n/a	n/a
19	ELF1	chr18:9613597-9614604	GM12878	blood:	n/a	chr18:9614444-9614453 chr18:9613941-9613953
20	POLR2A	chr18:9612160-9616803	MCF10A-Er-Src	breast:	n/a	n/a
21	BCLAF1	chr18:9613533-9614307	GM12878	blood:	n/a	chr18:9613942-9613955
22	SIN3A	chr18:9613404-9614426	H1-hESC	embryonic stem cell:	n/a	chr18:9614415-9614426
23	STAT3	chr18:9613510-9613789	MCF10A-Er-Src	breast:	n/a	n/a
24	SIN3AK20	chr18:9613510-9613983	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr18:9613587-9615478	HepG2	liver:	n/a	n/a
26	UBTF	chr18:9613540-9615577	K562	blood:	n/a	n/a
27	POLR2A	chr18:9613582-9615424	MCF-7	breast:	n/a	n/a
28	SIN3AK20	chr18:9613423-9614231	MCF-7	breast:	n/a	n/a
29	STAT3	chr18:9613470-9613775	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr18:9613369-9614582	Hela-S3	cervix:	n/a	n/a
31	MYC	chr18:9613534-9613656	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr18:9613069-9615751	Hela-S3	cervix:	n/a	n/a
33	HMGN3	chr18:9613632-9615330	K562	blood:	n/a	n/a
34	EP300	chr18:9613612-9613669	K562	blood:	n/a	n/a
35	POLR2A	chr18:9613517-9615412	IMR90	lung:	n/a	n/a
36	POLR2A	chr18:9613456-9614325	Hela-S3	cervix:	n/a	n/a
37	SIN3AK20	chr18:9613536-9613811	H1-hESC	embryonic stem cell:	n/a	n/a
38	SMC3	chr18:9613468-9614139	Hela-S3	cervix:	n/a	n/a
39	TFAP2C	chr18:9613573-9614468	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr18:9613560-9613710	AG10803	skin:	n/a	n/a
41	POLR2A	chr18:9613588-9615646	Hela-S3	cervix:	n/a	n/a
42	REST	chr18:9613304-9615719	H1-neurons	neurons:	n/a	n/a
43	GATA3	chr18:9613560-9613825	T-47D	breast:	n/a	n/a
44	STAT3	chr18:9613096-9613796	MCF10A-Er-Src	breast:	n/a	chr18:9613427-9613435 chr18:9613298-9613309
45	GATA3	chr18:9613452-9614160	T-47D	breast:	n/a	n/a
46	TFAP2A	chr18:9613586-9614264	Hela-S3	cervix:	n/a	chr18:9614098-9614110 chr18:9613777-9613785 chr18:9613944-9613956 chr18:9613777-9613785 chr18:9613777-9613785 chr18:9613775-9613786 chr18:9613945-9613956 chr18:9613944-9613959
47	TAF1	chr18:9613423-9614299	Hela-S3	cervix:	n/a	n/a
48	STAT3	chr18:9613509-9613791	MCF10A-Er-Src	breast:	n/a	n/a
49	TBP	chr18:9613408-9613793	Hela-S3	cervix:	n/a	n/a
50	MXI1	chr18:9613483-9613795	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:9612136..9615353-chr18:9912435..9915971,5	MCF-7	breast:
2	chr18:9612893..9615735-chr18:9913834..9918265,4	K562	blood:
3	chr18:9613570..9616156-chr18:9878427..9881071,2	K562	blood:
4	chr18:9613045..9616469-chr18:9913547..9915707,4	K562	blood:
5	chr18:9593651..9596050-chr18:9613258..9616024,2	MCF-7	breast:
6	chr18:9596087..9600746-chr18:9613522..9617540,6	MCF-7	breast:
7	chr18:9611182..9615699-chr18:9705314..9711194,13	MCF-7	breast:
8	chr18:9584254..9588034-chr18:9613364..9615601,3	MCF-7	breast:
9	chr18:9612544..9617098-chr18:9708301..9712595,6	MCF-7	breast:
10	chr18:9474922..9476536-chr18:9613527..9616238,2	MCF-7	breast:
11	chr18:9613618..9614587-chr22:31686737..31687476,2	Hela-S3	cervix:
12	chr18:9569658..9574401-chr18:9612462..9616455,5	K562	blood:
13	chr18:9613016..9616228-chr18:9911513..9913644,4	K562	blood:

Variant related genes	Relation type
PPP4R1	TF binding region
ENSG00000263627	TF binding region
ENSG00000266541	Chromatin interaction
ENSG00000101558	Chromatin interaction
ENSG00000272799	Chromatin interaction
ENSG00000100100	Chromatin interaction
ENSG00000168461	Chromatin interaction
ENSG00000154845	Chromatin interaction
ENSG00000017797	Chromatin interaction
ENSG00000265564	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv1836290	chr18:9611497-9614851	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv3375382	chr18:9612977-9615525	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
6	esv3497207	chr18:9613177-9616150	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
7	esv3497209	chr18:9613177-9616150	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
8	esv3389407	chr18:9613377-9615925	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9611600-9613800	Weak transcription	Spleen	Spleen
2	chr18:9612000-9615000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr18:9612200-9615200	Active TSS	NHLF	lung
4	chr18:9612400-9613800	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr18:9612400-9613800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr18:9612400-9614800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr18:9612400-9615200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr18:9612400-9615200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:9612400-9615200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:9612400-9615400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:9612400-9615800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr18:9612600-9613800	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr18:9612600-9613800	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr18:9612600-9615200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr18:9612600-9615200	Active TSS	HMEC	breast
16	chr18:9612600-9615400	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr18:9612600-9615400	Active TSS	Ovary	ovary
18	chr18:9612600-9615600	Active TSS	Right Ventricle	heart
19	chr18:9612600-9615800	Active TSS	Aorta	Aorta
20	chr18:9612800-9613800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr18:9612800-9613800	Active TSS	Right Atrium	heart
22	chr18:9612800-9614000	Active TSS	Fetal Brain Male	brain
23	chr18:9612800-9615000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr18:9612800-9615200	Active TSS	Fetal Muscle Leg	muscle
25	chr18:9612800-9615200	Active TSS	HSMM	muscle
26	chr18:9612800-9615200	Active TSS	HSMMtube	muscle
27	chr18:9612800-9615200	Active TSS	NHDF-Ad	bronchial
28	chr18:9612800-9615400	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr18:9612800-9615400	Active TSS	A549	lung
30	chr18:9612800-9615600	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr18:9613000-9613800	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr18:9613000-9613800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr18:9613000-9614000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr18:9613000-9615200	Active TSS	H1 Cell Line	embryonic stem cell
35	chr18:9613000-9615200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr18:9613000-9615200	Active TSS	Fetal Stomach	stomach
37	chr18:9613000-9615400	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr18:9613000-9615600	Active TSS	Fetal Brain Female	brain
39	chr18:9613200-9613800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr18:9613200-9613800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr18:9613200-9614200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr18:9613200-9614200	Active TSS	Fetal Lung	lung
43	chr18:9613200-9615000	Active TSS	K562	blood
44	chr18:9613200-9615200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr18:9613200-9615200	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr18:9613200-9615200	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr18:9613200-9615200	Active TSS	Brain Cingulate Gyrus	brain
48	chr18:9613200-9615200	Active TSS	Brain Hippocampus Middle	brain
49	chr18:9613200-9615200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr18:9613200-9615200	Active TSS	Brain Substantia Nigra	brain

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