Variant report

Variant	rs28994285
Chromosome Location	chr18:43309345-43309346
allele	C/G
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	PBX3	chr18:43308290-43309408	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr18:43307981-43309626	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr18:43308015-43309609	SK-N-SH	brain:	n/a	n/a
4	PBX3	chr18:43308425-43309376	SK-N-SH	brain:	n/a	n/a
5	TCF12	chr18:43308121-43309501	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
SLC14A1	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11873365	1.00[EUR][1000 genomes]
rs11875230	1.00[EUR][1000 genomes]
rs11877436	1.00[EUR][1000 genomes]
rs16978476	1.00[EUR][1000 genomes]
rs16978492	1.00[EUR][1000 genomes]
rs16978493	1.00[EUR][1000 genomes]
rs16978494	1.00[EUR][1000 genomes]
rs28438661	1.00[EUR][1000 genomes]
rs28450604	1.00[EUR][1000 genomes]
rs28460769	1.00[EUR][1000 genomes]
rs28605020	1.00[EUR][1000 genomes]
rs28669237	1.00[EUR][1000 genomes]
rs28698347	1.00[EUR][1000 genomes]
rs28757795	1.00[EUR][1000 genomes]
rs28898876	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28898881	1.00[EUR][1000 genomes]
rs28898882	1.00[EUR][1000 genomes]
rs28898887	1.00[EUR][1000 genomes]
rs28898895	1.00[EUR][1000 genomes]
rs28994273	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28994287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28994295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34674177	1.00[EUR][1000 genomes]
rs515596	1.00[EUR][1000 genomes]
rs56193937	1.00[EUR][1000 genomes]
rs7228878	1.00[EUR][1000 genomes]
rs7236728	1.00[EUR][1000 genomes]
rs7242125	1.00[EUR][1000 genomes]
rs7243454	1.00[EUR][1000 genomes]
rs73953681	1.00[EUR][1000 genomes]
rs8084290	1.00[EUR][1000 genomes]
rs8089544	1.00[EUR][1000 genomes]
rs8089798	1.00[EUR][1000 genomes]
rs8090934	1.00[EUR][1000 genomes]
rs9946629	1.00[EUR][1000 genomes]
rs9946802	1.00[EUR][1000 genomes]
rs9947795	1.00[EUR][1000 genomes]
rs9948555	1.00[EUR][1000 genomes]
rs9948715	1.00[EUR][1000 genomes]
rs9951978	1.00[EUR][1000 genomes]
rs9953484	1.00[EUR][1000 genomes]
rs9954523	1.00[EUR][1000 genomes]
rs9955015	1.00[EUR][1000 genomes]
rs9957147	1.00[EUR][1000 genomes]
rs9957464	1.00[EUR][1000 genomes]
rs9957999	1.00[EUR][1000 genomes]
rs9958360	1.00[EUR][1000 genomes]
rs9958987	1.00[EUR][1000 genomes]
rs9959151	1.00[EUR][1000 genomes]
rs9959239	1.00[EUR][1000 genomes]
rs9960635	1.00[EUR][1000 genomes]
rs9961926	1.00[EUR][1000 genomes]
rs9964753	1.00[EUR][1000 genomes]
rs9964968	1.00[EUR][1000 genomes]
rs9965236	1.00[EUR][1000 genomes]
rs9965728	1.00[EUR][1000 genomes]
rs9966061	1.00[EUR][1000 genomes]
rs9967557	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525268	chr18:42748365-43474795	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv909586	chr18:43204848-43313309	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv909587	chr18:43269125-43333526	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1063292	chr18:43295094-43317005	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43290200-43323000	Weak transcription	Primary B cells from cord blood	blood
2	chr18:43292800-43311200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr18:43296000-43311200	Weak transcription	A549	lung
4	chr18:43296000-43319400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr18:43296000-43325600	Weak transcription	Primary T cells from cord blood	blood
6	chr18:43303600-43309400	Flanking Active TSS	Osteobl	bone
7	chr18:43304800-43309400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr18:43305000-43331200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr18:43306000-43311200	Weak transcription	Brain Hippocampus Middle	brain
10	chr18:43306000-43317200	Weak transcription	Brain Angular Gyrus	brain
11	chr18:43306000-43318800	Weak transcription	Aorta	Aorta
12	chr18:43306800-43313000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr18:43307200-43320800	Weak transcription	Brain Substantia Nigra	brain
14	chr18:43307400-43309400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr18:43307400-43311000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr18:43307400-43332200	Weak transcription	Brain Anterior Caudate	brain
17	chr18:43307600-43309400	Enhancers	NH-A	brain
18	chr18:43307600-43312600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr18:43307600-43320800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr18:43307800-43309400	Enhancers	NHLF	lung
21	chr18:43308000-43312600	Enhancers	NHDF-Ad	bronchial
22	chr18:43308400-43309400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr18:43308400-43309400	Enhancers	Pancreas	Pancrea
24	chr18:43308600-43311000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:43309200-43310200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr18:43309200-43310400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr18:43309200-43312400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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