Variant report

Variant	rs553475606
Chromosome Location	chr18:12420199-12420200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:174)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:174 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:12419747-12420625	GM12878	blood:	n/a	n/a
2	MAX	chr18:12419703-12420660	HCT-116	colon:	n/a	n/a
3	CTCF	chr18:12420060-12420210	HA-sp	spinal cord:	n/a	n/a
4	MAX	chr18:12419770-12420642	MCF-7	breast:	n/a	n/a
5	MAX	chr18:12420036-12420598	MCF-7	breast:	n/a	n/a
6	GTF2F1	chr18:12419914-12420260	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZNF143	chr18:12420016-12420503	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZNF143	chr18:12419986-12420566	GM12878	blood:	n/a	chr18:12420502-12420512
9	MXI1	chr18:12419713-12420736	SK-N-SH	brain:	n/a	n/a
10	MAX	chr18:12420056-12420587	SK-N-SH	brain:	n/a	n/a
11	HDAC2	chr18:12419860-12420644	MCF-7	breast:	n/a	n/a
12	POLR2A	chr18:12420053-12420359	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr18:12419798-12420607	Hela-S3	cervix:	n/a	n/a
14	POU2F2	chr18:12419758-12420554	GM12878	blood:	n/a	n/a
15	POLR2A	chr18:12419808-12420568	MCF-7	breast:	n/a	n/a
16	POLR2A	chr18:12419658-12420586	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr18:12419769-12420583	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr18:12419759-12420630	GM12892	blood:	n/a	n/a
19	POLR2A	chr18:12419781-12420241	GM12891	blood:	n/a	n/a
20	MAZ	chr18:12419972-12420687	IMR90	lung:	n/a	n/a
21	MAZ	chr18:12419934-12420609	HepG2	liver:	n/a	n/a
22	POLR2A	chr18:12419762-12420600	GM18505	blood:	n/a	n/a
23	POLR2A	chr18:12419759-12420612	Raji	blood:	n/a	n/a
24	POLR2A	chr18:12419807-12421462	HepG2	liver:	n/a	n/a
25	HDAC2	chr18:12420193-12420484	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr18:12420011-12420508	GM12878	blood:	n/a	n/a
27	TAF1	chr18:12419735-12420606	H1-hESC	embryonic stem cell:	n/a	n/a
28	PAX5	chr18:12420170-12420550	GM12878	blood:	n/a	n/a
29	ZEB1	chr18:12419843-12420235	GM12878	blood:	n/a	n/a
30	POLR2A	chr18:12419707-12421427	H1-hESC	embryonic stem cell:	n/a	n/a
31	TAF1	chr18:12419722-12420565	H1-hESC	embryonic stem cell:	n/a	n/a
32	TEAD4	chr18:12419845-12420325	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr18:12419806-12420602	HepG2	liver:	n/a	n/a
34	POLR2A	chr18:12419653-12420568	GM12892	blood:	n/a	n/a
35	MYC	chr18:12420184-12420600	MCF-7	breast:	n/a	n/a
36	MAX	chr18:12419874-12420668	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr18:12419719-12420559	ECC-1	luminal epithelium:	n/a	n/a
38	ZNF143	chr18:12420114-12420456	Hela-S3	cervix:	n/a	n/a
39	MXI1	chr18:12419972-12420534	GM12878	blood:	n/a	n/a
40	YY1	chr18:12419718-12420461	H1-hESC	embryonic stem cell:	n/a	chr18:12420276-12420290 chr18:12420159-12420170 chr18:12420411-12420431
41	POLR2A	chr18:12420129-12420532	ProgFib	skin:	n/a	n/a
42	YY1	chr18:12420190-12420535	GM12891	blood:	n/a	chr18:12420276-12420290 chr18:12420411-12420431
43	TAF1	chr18:12419839-12420569	PFSK-1	brain:	n/a	n/a
44	YY1	chr18:12419908-12420591	GM12878	blood:	n/a	chr18:12420276-12420290 chr18:12420159-12420170 chr18:12420411-12420431
45	ZKSCAN1	chr18:12420162-12420448	Hela-S3	cervix:	n/a	n/a
46	MAX	chr18:12419776-12420700	HepG2	liver:	n/a	n/a
47	MXI1	chr18:12419923-12420413	H1-hESC	embryonic stem cell:	n/a	n/a
48	SMC3	chr18:12419851-12420490	Hela-S3	cervix:	n/a	n/a
49	MXI1	chr18:12419880-12420551	HepG2	liver:	n/a	n/a
50	POLR2A	chr18:12419770-12420514	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12418998..12421842-chr18:12658407..12660489,3	MCF-7	breast:
2	chr18:12406749..12409861-chr18:12418820..12421803,8	MCF-7	breast:
3	chr18:12407594..12413164-chr18:12414407..12422412,12	MCF-7	breast:
4	chr18:12418519..12420831-chr18:12657213..12660140,3	MCF-7	breast:
5	chr18:12418687..12420720-chr18:12430201..12431737,2	MCF-7	breast:
6	chr18:12375743..12378274-chr18:12418543..12422031,3	MCF-7	breast:

No data

Variant related genes	Relation type
SLMO1	TF binding region
ENSG00000128789	Chromatin interaction
ENSG00000141391	Chromatin interaction
ENSG00000215527	Chromatin interaction
ENSG00000256786	Chromatin interaction
ENSG00000134278	Chromatin interaction
ENSG00000141385	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
7	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv909404	chr18:12409955-12438402	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv9610	chr18:12417586-12424527	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv519557	chr18:12417905-12431506	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	esv3338945	chr18:12419177-12422125	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	esv3428897	chr18:12419827-12421825	Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12410400-12430400	Weak transcription	A549	lung
2	chr18:12418200-12430400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr18:12419600-12420400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr18:12419600-12420600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:12419600-12420800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr18:12419600-12421000	Active TSS	Brain Hippocampus Middle	brain
7	chr18:12419600-12421000	Active TSS	Fetal Brain Female	brain
8	chr18:12419800-12420200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr18:12419800-12420200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr18:12419800-12420200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr18:12419800-12420200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr18:12419800-12420200	Flanking Active TSS	Brain Cingulate Gyrus	brain
13	chr18:12419800-12420200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr18:12419800-12420200	Enhancers	Fetal Brain Male	brain
15	chr18:12419800-12420200	Flanking Active TSS	Pancreas	Pancrea
16	chr18:12419800-12420200	Flanking Active TSS	Thymus	Thymus
17	chr18:12419800-12420200	Flanking Active TSS	Osteobl	bone
18	chr18:12419800-12420400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr18:12419800-12420400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
20	chr18:12419800-12420400	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr18:12419800-12420400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr18:12419800-12420400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr18:12419800-12420400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr18:12419800-12420400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:12419800-12420400	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr18:12419800-12420400	Flanking Active TSS	Colonic Mucosa	Colon
27	chr18:12419800-12420400	Active TSS	Fetal Kidney	kidney
28	chr18:12419800-12420400	Flanking Active TSS	Fetal Muscle Trunk	muscle
29	chr18:12419800-12420400	Flanking Active TSS	Placenta	Placenta
30	chr18:12419800-12420400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
31	chr18:12419800-12420400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr18:12419800-12420600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr18:12419800-12420600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr18:12419800-12420600	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr18:12419800-12420600	Active TSS	Primary T cells from cord blood	blood
36	chr18:12419800-12420600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr18:12419800-12420600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr18:12419800-12420600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr18:12419800-12420600	Active TSS	Colon Smooth Muscle	Colon
40	chr18:12419800-12420600	Active TSS	Duodenum Mucosa	Duodenum
41	chr18:12419800-12420600	Active TSS	Fetal Lung	lung
42	chr18:12419800-12420600	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr18:12419800-12420600	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr18:12419800-12420600	Active TSS	Hela-S3	cervix
45	chr18:12419800-12420600	Active TSS	NHDF-Ad	bronchial
46	chr18:12419800-12420600	Active TSS	NHLF	lung
47	chr18:12419800-12420800	Active TSS	Fetal Intestine Large	intestine
48	chr18:12419800-12420800	Active TSS	Fetal Stomach	stomach
49	chr18:12419800-12420800	Active TSS	Fetal Thymus	thymus
50	chr18:12419800-12420800	Active TSS	Right Ventricle	heart

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