Variant report

Variant	rs553729489
Chromosome Location	chr18:12420727-12420728
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr18:12419713-12420736	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr18:12419807-12421462	HepG2	liver:	n/a	n/a
3	POLR2A	chr18:12419707-12421427	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZBTB7A	chr18:12419892-12420741	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr18:12419541-12421789	HepG2	liver:	n/a	n/a

No data

(count:5 , 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	chr18:12375743..12378274-chr18:12418543..12422031,3	MCF-7	breast:

No data

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

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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
15	esv3436965	chr18:12420352-12421500	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 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	chr18:12419600-12420800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr18:12419600-12421000	Active TSS	Brain Hippocampus Middle	brain
5	chr18:12419600-12421000	Active TSS	Fetal Brain Female	brain
6	chr18:12419800-12420800	Active TSS	Fetal Intestine Large	intestine
7	chr18:12419800-12420800	Active TSS	Fetal Stomach	stomach
8	chr18:12419800-12420800	Active TSS	Fetal Thymus	thymus
9	chr18:12419800-12420800	Active TSS	Right Ventricle	heart
10	chr18:12419800-12421000	Active TSS	H1 Cell Line	embryonic stem cell
11	chr18:12419800-12421000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr18:12419800-12421000	Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr18:12419800-12421000	Active TSS	Brain Anterior Caudate	brain
14	chr18:12419800-12421000	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr18:12419800-12421000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr18:12419800-12421000	Active TSS	Brain Substantia Nigra	brain
17	chr18:12419800-12421000	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr18:12419800-12421000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr18:12419800-12421000	Active TSS	Ovary	ovary
20	chr18:12419800-12421000	Active TSS	Right Atrium	heart
21	chr18:12419800-12421000	Active TSS	GM12878-XiMat	blood
22	chr18:12419800-12421200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:12419800-12421200	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr18:12419800-12421200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr18:12419800-12421200	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr18:12419800-12421200	Active TSS	Rectal Smooth Muscle	rectum
27	chr18:12419800-12421400	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr18:12419800-12421400	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr18:12419800-12421400	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr18:12419800-12421400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr18:12419800-12421400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr18:12419800-12421400	Active TSS	Fetal Intestine Small	intestine
33	chr18:12419800-12421400	Active TSS	NH-A	brain
34	chr18:12419800-12421600	Active TSS	H9 Cell Line	embryonic stem cell
35	chr18:12420000-12420800	Active TSS	Aorta	Aorta
36	chr18:12420000-12420800	Bivalent/Poised TSS	Psoas Muscle	Psoas
37	chr18:12420000-12420800	Active TSS	Stomach Smooth Muscle	stomach
38	chr18:12420000-12421000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr18:12420000-12421000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr18:12420000-12421000	Active TSS	Brain Angular Gyrus	brain
41	chr18:12420000-12421000	Active TSS	HepG2	liver
42	chr18:12420000-12421400	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr18:12420000-12421400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr18:12420200-12420800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr18:12420200-12420800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr18:12420200-12420800	Active TSS	Thymus	Thymus
47	chr18:12420200-12421000	Active TSS	Brain Cingulate Gyrus	brain
48	chr18:12420200-12421000	Weak transcription	Fetal Brain Male	brain
49	chr18:12420200-12421400	Active TSS	Osteobl	bone
50	chr18:12420200-12434800	Weak transcription	Stomach Mucosa	stomach

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