Variant report

Variant	rs72810708
Chromosome Location	chr5:115732433-115732434
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1421844	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17139715	0.92[AFR][1000 genomes]
rs55696513	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57023384	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67753547	0.86[ASN][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	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	esv2763489	chr5:115693166-115733327	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv522616	chr5:115725791-115744515	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv1845769	chr5:115730278-115763979	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115697600-115748400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:115707600-115748400	Weak transcription	Fetal Intestine Large	intestine
3	chr5:115708600-115754000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:115718400-115737000	Weak transcription	Primary B cells from cord blood	blood
5	chr5:115718600-115748400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr5:115719400-115734800	Weak transcription	Primary T cells from cord blood	blood
7	chr5:115723000-115776000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:115723600-115784800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr5:115724800-115745600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:115724800-115749200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:115729400-115733200	Enhancers	Psoas Muscle	Psoas
12	chr5:115729400-115733200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr5:115729400-115733200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr5:115730000-115732800	Enhancers	Rectal Smooth Muscle	rectum
15	chr5:115730200-115732600	Enhancers	Esophagus	oesophagus
16	chr5:115730200-115732600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr5:115730200-115732800	Enhancers	Fetal Muscle Leg	muscle
18	chr5:115730200-115732800	Enhancers	Left Ventricle	heart
19	chr5:115730200-115733000	Enhancers	Right Ventricle	heart
20	chr5:115730400-115733000	Enhancers	Colon Smooth Muscle	Colon
21	chr5:115730400-115769600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:115730600-115732600	Enhancers	Brain Cingulate Gyrus	brain
23	chr5:115730600-115732600	Enhancers	Brain Hippocampus Middle	brain
24	chr5:115730600-115732600	Enhancers	Brain Substantia Nigra	brain
25	chr5:115730600-115732800	Enhancers	Lung	lung
26	chr5:115730600-115732800	Enhancers	Ovary	ovary
27	chr5:115730600-115732800	Enhancers	Right Atrium	heart
28	chr5:115730800-115732600	Enhancers	Fetal Stomach	stomach
29	chr5:115730800-115733000	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr5:115730800-115733000	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr5:115731000-115732600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:115731000-115732600	Enhancers	Spleen	Spleen
33	chr5:115731000-115733400	Enhancers	Pancreas	Pancrea
34	chr5:115731000-115746800	Weak transcription	Fetal Intestine Small	intestine
35	chr5:115731000-115757000	Weak transcription	Gastric	stomach
36	chr5:115731600-115732600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr5:115731800-115732600	Enhancers	Liver	Liver
38	chr5:115731800-115738000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:115731800-115741000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:115732000-115747000	Weak transcription	Aorta	Aorta
41	chr5:115732400-115737000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr5:115732400-115737400	Weak transcription	Brain Angular Gyrus	brain
43	chr5:115732400-115740000	Weak transcription	Adipose Nuclei	Adipose

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