Variant report

Variant	rs7235545
Chromosome Location	chr18:12048807-12048808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11873137	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11873851	1.00[EUR][1000 genomes]
rs16976857	1.00[EUR][1000 genomes]
rs28540878	1.00[EUR][1000 genomes]
rs28717042	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28841406	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7238118	1.00[EUR][1000 genomes]
rs7243995	1.00[EUR][1000 genomes]
rs73947246	1.00[EUR][1000 genomes]
rs8086270	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9960082	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv909388	chr18:11987988-12141372	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv909389	chr18:11987988-12141625	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv909390	chr18:11987988-12155371	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv909391	chr18:11989416-12146408	Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv909392	chr18:11989416-12146698	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv909393	chr18:12001258-12155371	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv909394	chr18:12017343-12141372	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh 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	18 gene(s)	inside rSNPs	diseases
14	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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12045600-12049000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:12047000-12049200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr18:12047200-12050200	Enhancers	Primary B cells from peripheral blood	blood
4	chr18:12047600-12050000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr18:12047800-12049000	Weak transcription	Spleen	Spleen
6	chr18:12047800-12049200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr18:12048000-12049000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr18:12048000-12049400	Enhancers	HMEC	breast
9	chr18:12048200-12049000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:12048200-12051000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr18:12048200-12051000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr18:12048400-12049000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr18:12048400-12049000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr18:12048400-12049000	Enhancers	HSMM	muscle
15	chr18:12048400-12049000	Flanking Active TSS	Osteobl	bone
16	chr18:12048400-12049200	Enhancers	NH-A	brain
17	chr18:12048400-12049200	Enhancers	NHLF	lung
18	chr18:12048400-12049400	Enhancers	NHEK	skin
19	chr18:12048400-12050000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr18:12048400-12050000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr18:12048400-12050000	Enhancers	NHDF-Ad	bronchial
22	chr18:12048600-12049000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr18:12048600-12049000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr18:12048600-12049000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr18:12048600-12049000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr18:12048600-12049000	Enhancers	Adipose Nuclei	Adipose
27	chr18:12048600-12049200	Enhancers	HSMMtube	muscle
28	chr18:12048600-12050800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr18:12048600-12050800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr18:12048800-12049000	Enhancers	Primary hematopoietic stem cells	blood
31	chr18:12048800-12049000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr18:12048800-12049000	Enhancers	Placenta	Placenta
33	chr18:12048800-12049000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr18:12048800-12049000	Flanking Active TSS	GM12878-XiMat	blood
35	chr18:12048800-12049200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr18:12048800-12049800	Enhancers	Primary B cells from cord blood	blood
37	chr18:12048800-12050200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr18:12048800-12051200	Weak transcription	Duodenum Mucosa	Duodenum

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