Variant report

Variant	rs1785322
Chromosome Location	chr18:12416267-12416268
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	POLR2A	chr18:12415451-12416618	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr18:12415625-12416298	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12407594..12413164-chr18:12414407..12422412,12	MCF-7	breast:
2	chr18:12375250..12378013-chr18:12414688..12417638,3	MCF-7	breast:

Variant related genes	Relation type
SLMO1	TF binding region
ENSG00000141385	Chromatin interaction
ENSG00000141391	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1785318	0.82[YRI][hapmap]
rs486922	0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs500718	0.90[YRI][hapmap]
rs510878	1.00[AMR][1000 genomes]
rs512810	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs559958	1.00[MEX][hapmap];0.92[MKK][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs56258053	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9807378	1.00[MEX][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1785322	SLMO1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12408600-12419600	Weak transcription	Thymus	Thymus
2	chr18:12408800-12417800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:12408800-12419800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr18:12408800-12419800	Weak transcription	Pancreas	Pancrea
5	chr18:12409000-12417600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr18:12409000-12419600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr18:12409000-12419800	Weak transcription	Colonic Mucosa	Colon
8	chr18:12409000-12419800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr18:12409000-12419800	Weak transcription	Fetal Kidney	kidney
10	chr18:12409000-12419800	Weak transcription	Fetal Thymus	thymus
11	chr18:12409200-12418400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr18:12409800-12418000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr18:12409800-12419800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr18:12410200-12419800	Weak transcription	NH-A	brain
15	chr18:12410400-12417200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr18:12410400-12419800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr18:12410400-12419800	Weak transcription	Right Ventricle	heart
18	chr18:12410400-12430400	Weak transcription	A549	lung
19	chr18:12410600-12417600	Weak transcription	HMEC	breast
20	chr18:12411800-12419800	Weak transcription	NHEK	skin
21	chr18:12413800-12416600	Enhancers	Brain Hippocampus Middle	brain
22	chr18:12414000-12416600	Enhancers	Brain Cingulate Gyrus	brain
23	chr18:12414200-12416400	Enhancers	Brain Angular Gyrus	brain
24	chr18:12414200-12416600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr18:12414400-12419600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr18:12414800-12416400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr18:12414800-12416600	Enhancers	Placenta	Placenta
28	chr18:12415000-12416400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr18:12415000-12416400	Enhancers	Brain Anterior Caudate	brain
30	chr18:12415000-12416400	Enhancers	NHDF-Ad	bronchial
31	chr18:12415000-12416600	Enhancers	Fetal Muscle Leg	muscle
32	chr18:12415400-12416400	Enhancers	Fetal Brain Male	brain
33	chr18:12415400-12416400	Enhancers	HSMM	muscle
34	chr18:12415600-12416400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr18:12415600-12416400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr18:12415600-12416400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr18:12415600-12416400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr18:12415600-12416400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr18:12415600-12416400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr18:12415600-12416400	Enhancers	HUVEC	blood vessel
41	chr18:12415600-12416600	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr18:12415600-12416600	Enhancers	Fetal Muscle Trunk	muscle
43	chr18:12415800-12416400	Enhancers	Stomach Smooth Muscle	stomach
44	chr18:12415800-12416600	Enhancers	Brain Substantia Nigra	brain
45	chr18:12415800-12416600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr18:12415800-12416600	Enhancers	Lung	lung
47	chr18:12416000-12416400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr18:12416000-12416600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr18:12416000-12417400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr18:12416000-12417600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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