Variant report

Variant	rs8089534
Chromosome Location	chr18:12433800-12433801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12407919..12409639-chr18:12432525..12434212,2	MCF-7	breast:
2	chr18:12427958..12434396-chr18:12436312..12440619,6	K562	blood:

Variant related genes	Relation type
ENSG00000267199	Chromatin interaction
ENSG00000141391	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs541016	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552313	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7228666	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8088106	0.88[AMR][1000 genomes];0.83[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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12420200-12434800	Weak transcription	Stomach Mucosa	stomach
2	chr18:12420600-12443600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr18:12420600-12477600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr18:12421200-12443400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr18:12421200-12447600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr18:12421200-12452800	Weak transcription	Colonic Mucosa	Colon
7	chr18:12421400-12434600	Weak transcription	Colon Smooth Muscle	Colon
8	chr18:12421400-12444200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr18:12421800-12434400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr18:12421800-12442400	Weak transcription	GM12878-XiMat	blood
11	chr18:12426600-12434200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr18:12426600-12434600	Strong transcription	Brain Germinal Matrix	brain
13	chr18:12426600-12434600	Strong transcription	NHLF	lung
14	chr18:12426600-12434800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr18:12426600-12435000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr18:12426600-12435400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr18:12426600-12438600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr18:12426800-12434400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr18:12426800-12436400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr18:12427000-12435000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr18:12427200-12434600	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr18:12427400-12435000	Strong transcription	Brain Hippocampus Middle	brain
23	chr18:12428000-12435600	Strong transcription	Fetal Brain Female	brain
24	chr18:12428200-12434600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr18:12428200-12435600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr18:12428200-12440200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr18:12428200-12440600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr18:12428400-12433800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr18:12428400-12435000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr18:12428400-12435000	Strong transcription	Fetal Muscle Leg	muscle
31	chr18:12428400-12435400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr18:12428400-12437400	Strong transcription	Fetal Intestine Small	intestine
33	chr18:12428400-12439600	Weak transcription	Primary B cells from cord blood	blood
34	chr18:12428400-12443400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr18:12428600-12443800	Weak transcription	HSMMtube	muscle
36	chr18:12428800-12434000	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr18:12428800-12434800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr18:12428800-12434800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr18:12429000-12434600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr18:12429000-12435200	Strong transcription	Brain Anterior Caudate	brain
41	chr18:12429200-12434600	Strong transcription	Aorta	Aorta
42	chr18:12430600-12434800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
43	chr18:12430800-12434600	Strong transcription	Ovary	ovary
44	chr18:12430800-12435000	Strong transcription	Adipose Nuclei	Adipose
45	chr18:12430800-12435000	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr18:12430800-12443400	Weak transcription	A549	lung
47	chr18:12431000-12435000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr18:12431000-12435200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr18:12431000-12438000	Weak transcription	HSMM	muscle
50	chr18:12431000-12443400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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