Variant report

Variant	rs56237355
Chromosome Location	chr20:16294599-16294600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17659157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17670690	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17737595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4563306	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56166669	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56240672	1.00[ASN][1000 genomes]
rs6075046	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6075049	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6080212	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6080213	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6080214	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6080215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6080221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6080227	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6080228	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6080233	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6111029	0.86[AFR][1000 genomes]
rs7268680	0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833930	chr20:16134347-16302763	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16254000-16298400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr20:16262600-16346200	Weak transcription	Gastric	stomach
3	chr20:16270800-16302400	Weak transcription	Brain Hippocampus Middle	brain
4	chr20:16276400-16348200	Weak transcription	Colon Smooth Muscle	Colon
5	chr20:16283400-16295800	Weak transcription	Fetal Lung	lung
6	chr20:16284400-16313600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr20:16284600-16298200	Weak transcription	Primary B cells from cord blood	blood
8	chr20:16284600-16313600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr20:16284800-16302400	Weak transcription	Brain Substantia Nigra	brain
10	chr20:16284800-16302800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr20:16285000-16295000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr20:16285400-16330000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr20:16286000-16298200	Weak transcription	Ovary	ovary
14	chr20:16287000-16315200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr20:16288000-16332400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr20:16288400-16318200	Weak transcription	Pancreas	Pancrea
17	chr20:16288600-16297800	Weak transcription	Fetal Intestine Small	intestine
18	chr20:16288800-16296200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr20:16288800-16313800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr20:16288800-16318600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr20:16289200-16296200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr20:16289200-16297200	Weak transcription	Fetal Intestine Large	intestine
23	chr20:16289200-16313800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr20:16289400-16297000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr20:16289400-16297200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr20:16289400-16298400	Weak transcription	Psoas Muscle	Psoas
27	chr20:16289400-16348000	Weak transcription	Colonic Mucosa	Colon
28	chr20:16289800-16296000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr20:16289800-16297400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr20:16289800-16297800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr20:16289800-16299200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr20:16289800-16302200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr20:16289800-16323200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr20:16290000-16295200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr20:16290000-16297200	Weak transcription	Fetal Heart	heart
36	chr20:16290000-16298600	Weak transcription	Right Ventricle	heart
37	chr20:16290000-16298600	Weak transcription	NHEK	skin
38	chr20:16290000-16311200	Weak transcription	Primary T cells from cord blood	blood
39	chr20:16290000-16313600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr20:16290400-16313800	Weak transcription	Spleen	Spleen
41	chr20:16290800-16295400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr20:16291200-16294600	Weak transcription	Fetal Muscle Leg	muscle
43	chr20:16291200-16295000	Weak transcription	HSMMtube	muscle
44	chr20:16291200-16312800	Weak transcription	Aorta	Aorta
45	chr20:16291200-16313600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr20:16291200-16314400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr20:16291200-16317800	Weak transcription	Esophagus	oesophagus
48	chr20:16291400-16331000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr20:16292200-16295600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr20:16292400-16295600	Weak transcription	Lung	lung

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