Variant report

Variant	rs72953372
Chromosome Location	chr6:74409123-74409124
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs55982851	0.86[EUR][1000 genomes]
rs56171536	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56311419	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72953369	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72953375	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9442946	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9442947	0.86[EUR][1000 genomes]
rs9446984	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9446986	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9446988	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
3	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
6	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
7	nsv1029927	chr6:74300496-74424355	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1027691	chr6:74302980-74417450	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74406600-74409200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:74406600-74412800	Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr6:74406600-74414000	Weak transcription	Placenta	Placenta
4	chr6:74407000-74410000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:74407200-74413000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:74407200-74413600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:74407200-74414200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:74407200-74414200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:74407200-74421800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:74407200-74422400	Weak transcription	Fetal Lung	lung
11	chr6:74407200-74423800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr6:74407200-74424800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:74407400-74409800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:74407400-74413000	Weak transcription	NH-A	brain
15	chr6:74407400-74414000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:74407400-74414400	Weak transcription	Brain Anterior Caudate	brain
17	chr6:74407400-74423000	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:74407600-74412000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr6:74407600-74412800	Weak transcription	NHLF	lung
20	chr6:74407600-74413000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:74407600-74413000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:74407600-74413000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr6:74407600-74413200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:74407600-74413600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr6:74407600-74414000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:74407600-74414000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr6:74407600-74414000	Weak transcription	Fetal Thymus	thymus
28	chr6:74407600-74414000	Weak transcription	Left Ventricle	heart
29	chr6:74407600-74414000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr6:74407600-74424000	Weak transcription	Right Ventricle	heart
31	chr6:74407800-74409200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:74407800-74409200	Weak transcription	Colon Smooth Muscle	Colon
33	chr6:74407800-74409400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:74407800-74410400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:74407800-74412600	Weak transcription	Hela-S3	cervix
36	chr6:74407800-74412800	Weak transcription	Fetal Heart	heart
37	chr6:74407800-74413400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:74407800-74415800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:74407800-74416800	Weak transcription	Thymus	Thymus
40	chr6:74408000-74409200	Enhancers	Primary hematopoietic stem cells	blood
41	chr6:74408000-74409200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:74408000-74412400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:74408000-74412600	Weak transcription	Primary T cells from cord blood	blood
44	chr6:74408000-74412800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr6:74408000-74446800	Weak transcription	Dnd41	blood
46	chr6:74408400-74409200	Genic enhancers	A549	lung
47	chr6:74408600-74409200	Weak transcription	NHEK	skin
48	chr6:74408600-74410000	Genic enhancers	HMEC	breast
49	chr6:74408600-74410000	Flanking Active TSS	HUVEC	blood vessel
50	chr6:74408600-74410400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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