Variant report

Variant	rs72875382
Chromosome Location	chr18:12435098-12435099
allele	C/T
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	JUN	chr18:12435094-12435272	HepG2	liver:	n/a	chr18:12435201-12435214 chr18:12435205-12435214
2	POLR2A	chr18:12434959-12435257	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12434144..12436844-chr18:12437723..12439389,2	K562	blood:

Variant related genes	Relation type
ENSG00000267199	TF binding region
ENSG00000267199	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12455439	0.83[ASN][1000 genomes]
rs12457016	0.89[EUR][1000 genomes]
rs12605067	0.89[EUR][1000 genomes]
rs12605079	0.85[EUR][1000 genomes]
rs12954436	0.90[ASN][1000 genomes]
rs3760548	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3760550	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3760551	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3760554	0.84[EUR][1000 genomes]
rs45476491	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs579225	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12420600-12443600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr18:12420600-12477600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr18:12421200-12443400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr18:12421200-12447600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr18:12421200-12452800	Weak transcription	Colonic Mucosa	Colon
6	chr18:12421400-12444200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr18:12421800-12442400	Weak transcription	GM12878-XiMat	blood
8	chr18:12426600-12435400	Strong transcription	Fetal Muscle Trunk	muscle
9	chr18:12426600-12438600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr18:12426800-12436400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr18:12428000-12435600	Strong transcription	Fetal Brain Female	brain
12	chr18:12428200-12435600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr18:12428200-12440200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr18:12428200-12440600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr18:12428400-12435400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr18:12428400-12437400	Strong transcription	Fetal Intestine Small	intestine
17	chr18:12428400-12439600	Weak transcription	Primary B cells from cord blood	blood
18	chr18:12428400-12443400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr18:12428600-12443800	Weak transcription	HSMMtube	muscle
20	chr18:12429000-12435200	Strong transcription	Brain Anterior Caudate	brain
21	chr18:12430800-12443400	Weak transcription	A549	lung
22	chr18:12431000-12435200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr18:12431000-12438000	Weak transcription	HSMM	muscle
24	chr18:12431000-12443400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr18:12431000-12443600	Weak transcription	Fetal Heart	heart
26	chr18:12431000-12447600	Weak transcription	NH-A	brain
27	chr18:12431000-12449200	Weak transcription	Pancreas	Pancrea
28	chr18:12431200-12438800	Weak transcription	K562	blood
29	chr18:12431200-12443400	Weak transcription	Fetal Kidney	kidney
30	chr18:12431200-12447800	Weak transcription	NHEK	skin
31	chr18:12431400-12443400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr18:12432000-12443800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr18:12432600-12439000	Strong transcription	Fetal Stomach	stomach
34	chr18:12432600-12447000	Weak transcription	HMEC	breast
35	chr18:12433000-12438000	Weak transcription	Osteobl	bone
36	chr18:12433000-12441400	Weak transcription	Brain Substantia Nigra	brain
37	chr18:12433000-12441600	Weak transcription	NHDF-Ad	bronchial
38	chr18:12433000-12442800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr18:12433000-12443200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr18:12433000-12443600	Weak transcription	Fetal Brain Male	brain
41	chr18:12433000-12448800	Weak transcription	HUVEC	blood vessel
42	chr18:12433200-12436200	Strong transcription	Lung	lung
43	chr18:12433200-12441400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr18:12433200-12443400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr18:12433200-12443400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr18:12433200-12443600	Weak transcription	Brain Angular Gyrus	brain
47	chr18:12433200-12444000	Weak transcription	Left Ventricle	heart
48	chr18:12433200-12444000	Weak transcription	Right Ventricle	heart
49	chr18:12433200-12449200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr18:12433200-12449200	Weak transcription	Gastric	stomach

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