Variant report

Variant	rs72752513
Chromosome Location	chr5:43179192-43179193
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56256636	1.00[AFR][1000 genomes]
rs72748852	0.83[AMR][1000 genomes]
rs72748875	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs72748900	1.00[AFR][1000 genomes]
rs72752508	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72752517	1.00[AMR][1000 genomes];1.00[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	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription 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	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active 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	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43124000-43183000	Weak transcription	Small Intestine	intestine
2	chr5:43156600-43191200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:43162000-43191600	Weak transcription	Fetal Brain Male	brain
4	chr5:43163800-43191800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:43164400-43191200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:43165000-43191200	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:43169200-43179200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:43173600-43179400	Weak transcription	NHEK	skin
9	chr5:43175000-43179200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr5:43175000-43180400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:43175000-43180800	Weak transcription	Colonic Mucosa	Colon
12	chr5:43175000-43191800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:43175200-43179400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr5:43175200-43180000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:43175200-43180000	Weak transcription	Aorta	Aorta
16	chr5:43175200-43180000	Weak transcription	Osteobl	bone
17	chr5:43175200-43180400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr5:43175200-43180600	Weak transcription	Lung	lung
19	chr5:43175200-43180800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr5:43175200-43180800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr5:43175200-43180800	Weak transcription	Spleen	Spleen
22	chr5:43175200-43181800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:43175200-43182000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:43175200-43182200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:43175200-43183600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:43175200-43190200	Weak transcription	Fetal Intestine Small	intestine
27	chr5:43175200-43191000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:43175200-43191000	Weak transcription	Brain Angular Gyrus	brain
29	chr5:43175200-43191000	Weak transcription	Brain Anterior Caudate	brain
30	chr5:43175200-43191000	Weak transcription	Ovary	ovary
31	chr5:43175200-43191000	Weak transcription	NHLF	lung
32	chr5:43175200-43191200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr5:43175200-43191200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr5:43175200-43191200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr5:43175200-43191600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:43175200-43191800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:43175200-43192000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:43175400-43179200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:43175400-43179400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr5:43175400-43180200	Weak transcription	NHDF-Ad	bronchial
41	chr5:43175400-43181000	Weak transcription	Gastric	stomach
42	chr5:43175400-43181200	Weak transcription	Placenta	Placenta
43	chr5:43175400-43185000	Weak transcription	Psoas Muscle	Psoas
44	chr5:43175400-43190600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:43175400-43191000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:43175400-43191400	Weak transcription	Fetal Brain Female	brain
47	chr5:43175400-43191400	Weak transcription	Fetal Kidney	kidney
48	chr5:43175400-43191600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr5:43175400-43191800	Weak transcription	Left Ventricle	heart
50	chr5:43175400-43191800	Weak transcription	Pancreas	Pancrea

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