Variant report

Variant	rs72740974
Chromosome Location	chr5:37638113-37638114
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	chr5:37630392..37632021-chr5:37637856..37640438,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs55633811	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55789634	0.82[AFR][1000 genomes]
rs56003317	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56279820	0.84[AMR][1000 genomes]
rs56347315	0.82[AFR][1000 genomes]
rs57825896	0.82[AFR][1000 genomes]
rs6866115	0.82[AFR][1000 genomes]
rs6872560	0.85[AFR][1000 genomes]
rs72740947	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72740968	0.94[EUR][1000 genomes]
rs72740970	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72740972	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72740973	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72740975	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72740978	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72740981	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72740983	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72740989	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72740990	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72740991	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72743159	0.84[AMR][1000 genomes]
rs72743164	0.84[AMR][1000 genomes]
rs72743167	0.84[AMR][1000 genomes]
rs73749049	0.82[AFR][1000 genomes]
rs73749052	0.82[AFR][1000 genomes]
rs73749053	0.82[AFR][1000 genomes]
rs73749067	0.82[AFR][1000 genomes]
rs73749069	0.82[AFR][1000 genomes]
rs73749070	0.82[AFR][1000 genomes]
rs7704083	0.83[EUR][1000 genomes]
rs7709969	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9283746	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1015983	chr5:37240827-37666601	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1034094	chr5:37406859-37666704	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv537731	chr5:37406859-37666704	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv880890	chr5:37443079-37681646	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37616200-37639400	Weak transcription	Fetal Heart	heart
2	chr5:37629400-37639000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:37629600-37638800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:37629600-37640800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr5:37629600-37640800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:37629600-37641600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr5:37630200-37645200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:37630400-37640600	Weak transcription	Brain Anterior Caudate	brain
9	chr5:37630400-37645200	Weak transcription	Adipose Nuclei	Adipose
10	chr5:37631400-37638600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:37632200-37639000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:37633200-37644000	Weak transcription	Primary B cells from cord blood	blood
13	chr5:37633600-37638800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:37635200-37643200	Weak transcription	Primary T cells from cord blood	blood
15	chr5:37636600-37638600	Weak transcription	NHDF-Ad	bronchial
16	chr5:37637600-37638200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:37637600-37638200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:37637600-37638200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr5:37637600-37638200	Enhancers	A549	lung
20	chr5:37637600-37639600	Enhancers	Osteobl	bone
21	chr5:37637600-37640800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:37637800-37638200	Enhancers	Esophagus	oesophagus
23	chr5:37637800-37638200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr5:37637800-37638800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:37637800-37638800	Enhancers	Psoas Muscle	Psoas
26	chr5:37637800-37639200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:37638000-37638200	Enhancers	Pancreas	Pancrea
28	chr5:37638000-37639000	Weak transcription	NH-A	brain
29	chr5:37638000-37639600	Weak transcription	Colon Smooth Muscle	Colon

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