Variant report

Variant	rs7228666
Chromosome Location	chr18:12427118-12427119
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	STAT3	chr18:12427079-12427166	MCF10A-Er-Src	breast:	n/a	chr18:12427111-12427120
2	FOS	chr18:12426939-12427214	MCF10A-Er-Src	breast:	n/a	chr18:12427112-12427119 chr18:12427111-12427120
3	FOS	chr18:12427003-12427204	MCF10A-Er-Src	breast:	n/a	chr18:12427112-12427119 chr18:12427111-12427120
4	FOS	chr18:12426980-12427234	MCF10A-Er-Src	breast:	n/a	chr18:12427112-12427119 chr18:12427111-12427120

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12422115..12425082-chr18:12427051..12428777,2	K562	blood:

Variant related genes	Relation type
ENSG00000256786	TF binding region

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs541016	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8088106	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8089534	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
12	esv3351983	chr18:12424102-12427600	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

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	chr18:12420200-12434800	Weak transcription	Stomach Mucosa	stomach
4	chr18:12420600-12427200	Weak transcription	NHDF-Ad	bronchial
5	chr18:12420600-12427800	Weak transcription	HMEC	breast
6	chr18:12420600-12430000	Weak transcription	Pancreas	Pancrea
7	chr18:12420600-12432400	Weak transcription	Left Ventricle	heart
8	chr18:12420600-12432600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:12420600-12433600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr18:12420600-12443600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr18:12420600-12477600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr18:12421000-12427200	Weak transcription	Lung	lung
13	chr18:12421200-12429600	Weak transcription	Gastric	stomach
14	chr18:12421200-12429600	Weak transcription	Spleen	Spleen
15	chr18:12421200-12432400	Weak transcription	Esophagus	oesophagus
16	chr18:12421200-12443400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr18:12421200-12447600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr18:12421200-12452800	Weak transcription	Colonic Mucosa	Colon
19	chr18:12421400-12430800	Weak transcription	Adipose Nuclei	Adipose
20	chr18:12421400-12431200	Weak transcription	Right Ventricle	heart
21	chr18:12421400-12433600	Weak transcription	Placenta	Placenta
22	chr18:12421400-12434600	Weak transcription	Colon Smooth Muscle	Colon
23	chr18:12421400-12444200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr18:12421800-12427200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr18:12421800-12427800	Weak transcription	Fetal Heart	heart
26	chr18:12421800-12428800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr18:12421800-12430400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr18:12421800-12434400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr18:12421800-12442400	Weak transcription	GM12878-XiMat	blood
30	chr18:12422000-12431800	Weak transcription	Fetal Thymus	thymus
31	chr18:12422600-12430400	Weak transcription	K562	blood
32	chr18:12423800-12427800	Weak transcription	Fetal Brain Male	brain
33	chr18:12424000-12430000	Weak transcription	Thymus	Thymus
34	chr18:12426000-12428400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr18:12426000-12428400	ZNF genes & repeats	Fetal Stomach	stomach
36	chr18:12426400-12428400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr18:12426600-12427200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
38	chr18:12426600-12427200	Enhancers	HUVEC	blood vessel
39	chr18:12426600-12427400	ZNF genes & repeats	Brain Hippocampus Middle	brain
40	chr18:12426600-12427400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
41	chr18:12426600-12427600	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr18:12426600-12427600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr18:12426600-12428000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
44	chr18:12426600-12428200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
45	chr18:12426600-12428200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
46	chr18:12426600-12428200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr18:12426600-12428200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
48	chr18:12426600-12428200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr18:12426600-12428200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr18:12426600-12428200	ZNF genes & repeats	Brain Anterior Caudate	brain

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