Variant report

Variant	rs31497
Chromosome Location	chr5:16713021-16713022
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs152726	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs153182	0.83[EUR][1000 genomes]
rs153184	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs153185	0.87[ASN][1000 genomes]
rs193924	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs250343	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs27552	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs31290	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs31296	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs31297	0.86[ASN][1000 genomes]
rs31299	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39888	0.83[EUR][1000 genomes]
rs39889	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs42564	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16663800-16713400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:16673800-16713400	Weak transcription	Psoas Muscle	Psoas
3	chr5:16675800-16713600	Weak transcription	Left Ventricle	heart
4	chr5:16681600-16713200	Weak transcription	Small Intestine	intestine
5	chr5:16682400-16736000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:16690200-16713200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:16701800-16713400	Weak transcription	Right Ventricle	heart
8	chr5:16705200-16713400	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:16709800-16713600	Weak transcription	Colonic Mucosa	Colon
10	chr5:16710400-16723600	Weak transcription	Esophagus	oesophagus
11	chr5:16711000-16713200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr5:16711200-16713200	Weak transcription	Stomach Mucosa	stomach
13	chr5:16711200-16713400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:16711200-16713400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:16711200-16713600	Weak transcription	Aorta	Aorta
16	chr5:16711200-16713600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:16711200-16713600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:16711200-16719000	Weak transcription	Lung	lung
19	chr5:16711200-16719400	Weak transcription	Pancreas	Pancrea
20	chr5:16711200-16723800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:16711200-16736400	Weak transcription	Hela-S3	cervix
22	chr5:16711400-16713200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr5:16711400-16713400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:16711400-16713400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:16711400-16713400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:16711400-16713400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:16711400-16713400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:16711400-16713600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:16711400-16713600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr5:16711400-16717600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr5:16711400-16719400	Weak transcription	Gastric	stomach
32	chr5:16711400-16721000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:16711400-16721200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr5:16711400-16721600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr5:16711400-16724000	Weak transcription	Ovary	ovary
36	chr5:16711400-16727800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:16711400-16728200	Weak transcription	Spleen	Spleen
38	chr5:16711400-16730200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:16711400-16731800	Weak transcription	HMEC	breast
40	chr5:16711600-16713400	Weak transcription	Fetal Intestine Large	intestine
41	chr5:16711600-16713600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr5:16711600-16714200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:16711600-16721600	Weak transcription	NHEK	skin
44	chr5:16711600-16721800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:16711600-16736000	Weak transcription	Placenta	Placenta
46	chr5:16711800-16713600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:16712200-16713400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr5:16712200-16713600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr5:16712200-16714200	Enhancers	Fetal Lung	lung
50	chr5:16712400-16713200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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