Variant report

Variant	rs28608782
Chromosome Location	chr18:12629196-12629197
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12628255..12630998-chr18:12635473..12638041,2	K562	blood:
2	chr18:12628218..12630866-chr18:12631795..12634195,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134278	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs28411962	1.00[AMR][1000 genomes]
rs28504345	1.00[AMR][1000 genomes]
rs28533061	1.00[AMR][1000 genomes]
rs28557018	1.00[AMR][1000 genomes]
rs28599545	1.00[AMR][1000 genomes]
rs28603194	1.00[AMR][1000 genomes]
rs28734798	1.00[AMR][1000 genomes]
rs9945568	1.00[AMR][1000 genomes]
rs9946958	1.00[AMR][1000 genomes]
rs9947177	1.00[AMR][1000 genomes]
rs9947285	1.00[AMR][1000 genomes]
rs9949203	1.00[AMR][1000 genomes]
rs9950017	1.00[AMR][1000 genomes]
rs9950999	1.00[AMR][1000 genomes]
rs9953587	1.00[AMR][1000 genomes]
rs9954340	1.00[AMR][1000 genomes]
rs9957046	1.00[AMR][1000 genomes]
rs9958917	1.00[AMR][1000 genomes]
rs9960826	1.00[AMR][1000 genomes]
rs9961389	1.00[AMR][1000 genomes]
rs9961477	1.00[AMR][1000 genomes]
rs9961556	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv962958	chr18:12626598-12636297	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12597800-12634600	Weak transcription	Aorta	Aorta
2	chr18:12602200-12638400	Weak transcription	Fetal Brain Female	brain
3	chr18:12607000-12640200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr18:12607800-12651800	Weak transcription	Brain Germinal Matrix	brain
5	chr18:12609200-12629400	Weak transcription	HSMMtube	muscle
6	chr18:12611600-12629200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr18:12611800-12630400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:12616400-12630600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr18:12616400-12640400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr18:12616400-12644800	Weak transcription	Brain Hippocampus Middle	brain
11	chr18:12616600-12645200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr18:12616800-12629400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr18:12617400-12630600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr18:12619600-12629400	Weak transcription	Brain Anterior Caudate	brain
15	chr18:12621200-12645200	Weak transcription	Fetal Muscle Leg	muscle
16	chr18:12621800-12630600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr18:12622400-12631000	Weak transcription	K562	blood
18	chr18:12622800-12645000	Weak transcription	Brain Angular Gyrus	brain
19	chr18:12624000-12637600	Weak transcription	Left Ventricle	heart
20	chr18:12625400-12640400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr18:12626200-12630600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr18:12626600-12629600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr18:12626600-12640600	Weak transcription	Lung	lung
24	chr18:12627800-12629200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr18:12627800-12629400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr18:12627800-12631800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr18:12628600-12631200	Enhancers	Osteobl	bone
28	chr18:12628800-12629400	Enhancers	NHEK	skin
29	chr18:12628800-12629600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr18:12628800-12629800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr18:12628800-12630200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr18:12628800-12630800	Enhancers	HMEC	breast
33	chr18:12628800-12631000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr18:12628800-12631200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr18:12628800-12631200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr18:12628800-12631200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr18:12628800-12631200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr18:12628800-12631200	Enhancers	HUVEC	blood vessel
39	chr18:12628800-12631200	Enhancers	NHDF-Ad	bronchial
40	chr18:12628800-12631200	Enhancers	NHLF	lung
41	chr18:12629000-12629400	Flanking Active TSS	NH-A	brain
42	chr18:12629000-12629800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr18:12629000-12630000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr18:12629000-12630800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr18:12629000-12631000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr18:12629000-12631000	Enhancers	HSMM	muscle

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