Variant report

Variant	rs31293
Chromosome Location	chr5:16719392-16719393
allele	A/G
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:11)

rs_ID	r²[population]
rs152726	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs153182	0.83[AMR][1000 genomes]
rs153183	0.83[AMR][1000 genomes]
rs153184	0.83[ASN][1000 genomes]
rs153185	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17501392	0.84[ASN][1000 genomes]
rs193924	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs31290	0.85[ASN][1000 genomes]
rs39887	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs40979	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs42564	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869660	chr5:16651289-16766428	Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv880373	chr5:16710572-16785604	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16682400-16736000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:16710400-16723600	Weak transcription	Esophagus	oesophagus
3	chr5:16711200-16719400	Weak transcription	Pancreas	Pancrea
4	chr5:16711200-16723800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:16711200-16736400	Weak transcription	Hela-S3	cervix
6	chr5:16711400-16719400	Weak transcription	Gastric	stomach
7	chr5:16711400-16721000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:16711400-16721200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr5:16711400-16721600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:16711400-16724000	Weak transcription	Ovary	ovary
11	chr5:16711400-16727800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:16711400-16728200	Weak transcription	Spleen	Spleen
13	chr5:16711400-16730200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:16711400-16731800	Weak transcription	HMEC	breast
15	chr5:16711600-16721600	Weak transcription	NHEK	skin
16	chr5:16711600-16721800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:16711600-16736000	Weak transcription	Placenta	Placenta
18	chr5:16713600-16721600	Weak transcription	Stomach Mucosa	stomach
19	chr5:16713800-16731600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:16713800-16735600	Weak transcription	Colonic Mucosa	Colon
21	chr5:16714000-16719800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:16714000-16721400	Weak transcription	HSMMtube	muscle
23	chr5:16714000-16721600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:16714000-16724000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr5:16714000-16726200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:16714000-16726200	Weak transcription	Left Ventricle	heart
27	chr5:16714000-16730200	Weak transcription	Osteobl	bone
28	chr5:16714200-16721400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:16714200-16721600	Weak transcription	Fetal Lung	lung
30	chr5:16714200-16721600	Weak transcription	A549	lung
31	chr5:16714200-16721600	Weak transcription	HSMM	muscle
32	chr5:16714200-16726200	Weak transcription	Fetal Kidney	kidney
33	chr5:16714200-16730400	Weak transcription	NHLF	lung
34	chr5:16714200-16736000	Weak transcription	NHDF-Ad	bronchial
35	chr5:16714400-16720200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr5:16714400-16721200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:16714400-16730000	Weak transcription	NH-A	brain
38	chr5:16714600-16719400	Weak transcription	Brain Anterior Caudate	brain
39	chr5:16714600-16720200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:16714600-16721600	Weak transcription	Brain Angular Gyrus	brain
41	chr5:16714600-16722000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr5:16714600-16726400	Weak transcription	Brain Substantia Nigra	brain
43	chr5:16714600-16728200	Weak transcription	Psoas Muscle	Psoas
44	chr5:16714800-16720200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr5:16714800-16721600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr5:16714800-16721600	Weak transcription	Fetal Muscle Leg	muscle
47	chr5:16714800-16721800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:16715000-16719600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:16715000-16721200	Weak transcription	Brain Hippocampus Middle	brain
50	chr5:16715000-16725400	Weak transcription	HUVEC	blood vessel

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