Variant report

Variant	rs31580
Chromosome Location	chr5:16698340-16698341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs153200	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs154288	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs25909	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs26315	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs31310	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs31313	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs31574	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs31575	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs39903	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs42566	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[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	nsv4737	chr5:16681166-16707357	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16661800-16700000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:16663000-16712400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:16663800-16702400	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:16663800-16713400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:16664000-16701000	Strong transcription	Fetal Intestine Large	intestine
6	chr5:16664000-16702000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:16664000-16702200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:16664000-16702400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:16664200-16702200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:16665600-16699200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:16667800-16701000	Weak transcription	Right Ventricle	heart
12	chr5:16673800-16713400	Weak transcription	Psoas Muscle	Psoas
13	chr5:16675800-16713600	Weak transcription	Left Ventricle	heart
14	chr5:16677800-16706000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:16679600-16701000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:16681000-16699200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr5:16681400-16701000	Weak transcription	Colonic Mucosa	Colon
18	chr5:16681600-16713200	Weak transcription	Small Intestine	intestine
19	chr5:16682400-16699200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:16682400-16736000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:16683200-16701000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:16683800-16707200	Weak transcription	Liver	Liver
23	chr5:16684000-16698600	Weak transcription	Aorta	Aorta
24	chr5:16684200-16700800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:16684600-16701200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr5:16686000-16708400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:16688000-16711600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:16688400-16711400	Strong transcription	Fetal Lung	lung
29	chr5:16689800-16710000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:16690200-16698600	Weak transcription	HSMM	muscle
31	chr5:16690200-16699200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr5:16690200-16713200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr5:16690400-16707400	Weak transcription	Hela-S3	cervix
34	chr5:16691800-16699200	Strong transcription	Duodenum Mucosa	Duodenum
35	chr5:16692000-16702000	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr5:16694200-16699200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:16694600-16698400	Weak transcription	Fetal Kidney	kidney
38	chr5:16694600-16699000	Weak transcription	A549	lung
39	chr5:16694600-16699200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:16694800-16699000	Weak transcription	Brain Anterior Caudate	brain
41	chr5:16694800-16699000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr5:16694800-16699200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:16694800-16699200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr5:16694800-16699200	Weak transcription	NHDF-Ad	bronchial
45	chr5:16694800-16699200	Weak transcription	NHLF	lung
46	chr5:16694800-16699600	Weak transcription	Esophagus	oesophagus
47	chr5:16694800-16701000	Weak transcription	Adipose Nuclei	Adipose
48	chr5:16695000-16698600	Weak transcription	Brain Hippocampus Middle	brain
49	chr5:16695000-16698800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:16695000-16699000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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