Variant report

Variant	rs1785363
Chromosome Location	chr18:12479149-12479150
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	chr18:12478411..12479284-chr18:12659311..12660299,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11659280	0.88[ASN][1000 genomes]
rs12964631	0.81[ASN][1000 genomes]
rs1785333	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs498822	0.90[ASN][1000 genomes]
rs554389	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs558128	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs578667	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs59992891	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv2208	chr18:12472999-12518189	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1785363	AP001029.1	cis	Thyroid	GTEx
rs1785363	AP001029.1	cis	Artery Tibial	GTEx
rs1785363	SLMO1	cis	Thyroid	GTEx
rs1785363	SLMO1	cis	lung	GTEx
rs1785363	SLMO1	cis	Artery Tibial	GTEx

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12446200-12479600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr18:12449800-12479600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr18:12453400-12484400	Weak transcription	Hela-S3	cervix
4	chr18:12460200-12516600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr18:12461200-12481200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr18:12461400-12495400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr18:12461800-12479800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr18:12463400-12480000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr18:12463400-12491800	Weak transcription	Psoas Muscle	Psoas
10	chr18:12465000-12491400	Weak transcription	NHDF-Ad	bronchial
11	chr18:12465600-12500800	Weak transcription	Fetal Intestine Large	intestine
12	chr18:12472600-12495200	Weak transcription	Colonic Mucosa	Colon
13	chr18:12474200-12480600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr18:12475200-12480400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr18:12476600-12479200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr18:12476800-12479200	Strong transcription	Brain Inferior Temporal Lobe	brain
17	chr18:12476800-12480200	Strong transcription	Ovary	ovary
18	chr18:12476800-12480400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr18:12476800-12480600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr18:12477000-12479800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr18:12477000-12480000	Strong transcription	Brain Substantia Nigra	brain
22	chr18:12477000-12480600	Strong transcription	Adipose Nuclei	Adipose
23	chr18:12477000-12481000	Strong transcription	HSMM	muscle
24	chr18:12477000-12481200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:12477000-12482200	Strong transcription	HSMMtube	muscle
26	chr18:12477200-12479600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr18:12477200-12479800	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr18:12477200-12479800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr18:12477200-12479800	Strong transcription	Aorta	Aorta
30	chr18:12477200-12479800	Strong transcription	Fetal Muscle Leg	muscle
31	chr18:12477200-12479800	Strong transcription	Fetal Stomach	stomach
32	chr18:12477200-12480200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr18:12477200-12490800	Weak transcription	K562	blood
34	chr18:12477400-12480000	Strong transcription	Stomach Smooth Muscle	stomach
35	chr18:12477400-12480800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr18:12477600-12479400	Strong transcription	Lung	lung
37	chr18:12477600-12479600	Strong transcription	Brain Germinal Matrix	brain
38	chr18:12477600-12480000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr18:12477600-12480000	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr18:12477600-12480000	Strong transcription	Brain Angular Gyrus	brain
41	chr18:12477600-12480000	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr18:12478400-12485400	Weak transcription	Fetal Thymus	thymus
43	chr18:12478400-12512600	Weak transcription	Fetal Intestine Small	intestine
44	chr18:12478600-12479400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr18:12478600-12479800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr18:12478600-12480600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr18:12478600-12496000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr18:12478600-12498400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr18:12478600-12506400	Weak transcription	Right Ventricle	heart
50	chr18:12478600-12510800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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