Variant report

Variant	rs9945568
Chromosome Location	chr18:12480916-12480917
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	chr18:12480204..12483601-chr18:12657660..12659275,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134278	Chromatin interaction
ENSG00000215527	Chromatin interaction
ENSG00000128789	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

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]
rs28608782	1.00[AMR][1000 genomes]
rs28734798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8097077	1.00[AMR][1000 genomes]
rs9946958	1.00[AMR][1000 genomes]
rs9947177	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9947996	1.00[YRI][hapmap]
rs9949203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9950017	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9950999	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9953587	1.00[AMR][1000 genomes]
rs9954340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9957046	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9958917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9960580	1.00[AMR][1000 genomes]
rs9961389	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9961477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9961556	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9962240	1.00[AFR][1000 genomes]
rs9962634	1.00[AFR][1000 genomes]
rs9965144	1.00[AFR][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

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12453400-12484400	Weak transcription	Hela-S3	cervix
2	chr18:12460200-12516600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:12461200-12481200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr18:12461400-12495400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr18:12463400-12491800	Weak transcription	Psoas Muscle	Psoas
6	chr18:12465000-12491400	Weak transcription	NHDF-Ad	bronchial
7	chr18:12465600-12500800	Weak transcription	Fetal Intestine Large	intestine
8	chr18:12472600-12495200	Weak transcription	Colonic Mucosa	Colon
9	chr18:12477000-12481000	Strong transcription	HSMM	muscle
10	chr18:12477000-12481200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr18:12477000-12482200	Strong transcription	HSMMtube	muscle
12	chr18:12477200-12490800	Weak transcription	K562	blood
13	chr18:12478400-12485400	Weak transcription	Fetal Thymus	thymus
14	chr18:12478400-12512600	Weak transcription	Fetal Intestine Small	intestine
15	chr18:12478600-12496000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr18:12478600-12498400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr18:12478600-12506400	Weak transcription	Right Ventricle	heart
18	chr18:12478600-12510800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr18:12478800-12481600	Weak transcription	Fetal Heart	heart
20	chr18:12478800-12485200	Weak transcription	HUVEC	blood vessel
21	chr18:12478800-12485400	Weak transcription	HMEC	breast
22	chr18:12478800-12485600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr18:12478800-12485600	Weak transcription	NHEK	skin
24	chr18:12478800-12485800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr18:12478800-12488000	Weak transcription	Left Ventricle	heart
26	chr18:12478800-12490800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr18:12478800-12491200	Weak transcription	Liver	Liver
28	chr18:12478800-12491400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr18:12478800-12491400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr18:12478800-12491400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr18:12478800-12491400	Weak transcription	Brain Anterior Caudate	brain
32	chr18:12478800-12491400	Weak transcription	Fetal Brain Female	brain
33	chr18:12478800-12491400	Weak transcription	Fetal Lung	lung
34	chr18:12478800-12491400	Weak transcription	HepG2	liver
35	chr18:12478800-12491400	Weak transcription	Osteobl	bone
36	chr18:12478800-12491600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr18:12478800-12491600	Weak transcription	Brain Hippocampus Middle	brain
38	chr18:12478800-12491600	Weak transcription	Colon Smooth Muscle	Colon
39	chr18:12478800-12491600	Weak transcription	Esophagus	oesophagus
40	chr18:12478800-12491600	Weak transcription	Fetal Kidney	kidney
41	chr18:12478800-12491600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr18:12478800-12491600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr18:12478800-12491600	Weak transcription	Spleen	Spleen
44	chr18:12478800-12492000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr18:12478800-12492800	Weak transcription	Fetal Brain Male	brain
46	chr18:12478800-12497400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr18:12478800-12499600	Weak transcription	NHLF	lung
48	chr18:12478800-12504800	Weak transcription	Gastric	stomach
49	chr18:12478800-12505800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr18:12478800-12514200	Weak transcription	NH-A	brain

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