Variant report

Variant	rs4814466
Chromosome Location	chr20:16253819-16253820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10485549	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10485550	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11907241	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11908227	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11908242	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17730831	1.00[ASN][1000 genomes]
rs17730901	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17731020	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3848791	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3848792	1.00[ASN][1000 genomes]
rs3848793	1.00[ASN][1000 genomes]
rs4052895	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41276366	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4287828	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4416282	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4814467	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57988134	1.00[ASN][1000 genomes]
rs6105560	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105561	1.00[ASN][1000 genomes]
rs6105562	1.00[ASN][1000 genomes]
rs6110998	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6110999	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6111001	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6111004	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6111005	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6111007	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6111008	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6111012	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6111025	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs718610	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs878582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs878583	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	chr20:16242400-16275000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr20:16247600-16290800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr20:16248000-16254400	Weak transcription	Fetal Muscle Leg	muscle
4	chr20:16248200-16255400	Weak transcription	Placenta	Placenta
5	chr20:16248400-16259400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr20:16248400-16260800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr20:16248400-16261000	Weak transcription	Left Ventricle	heart
8	chr20:16248400-16263200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr20:16248400-16263800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr20:16248600-16291400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr20:16248800-16256600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr20:16248800-16267000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr20:16248800-16272600	Weak transcription	Primary T cells from cord blood	blood
14	chr20:16249000-16272800	Weak transcription	Right Ventricle	heart
15	chr20:16249200-16277400	Weak transcription	Brain Substantia Nigra	brain
16	chr20:16249400-16264000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr20:16250000-16266800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr20:16250400-16255600	Enhancers	Fetal Brain Male	brain
19	chr20:16250600-16260600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr20:16250800-16263400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr20:16251000-16265000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr20:16251400-16254600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr20:16251400-16263000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr20:16251400-16263800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr20:16251600-16258200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr20:16251800-16254000	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr20:16251800-16255000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr20:16251800-16255400	Enhancers	Fetal Intestine Large	intestine
29	chr20:16251800-16256800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr20:16252000-16270800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr20:16252000-16289400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr20:16252200-16254000	Weak transcription	Fetal Brain Female	brain
33	chr20:16252400-16264400	Weak transcription	Small Intestine	intestine
34	chr20:16252400-16283000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr20:16252600-16255000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr20:16252800-16264800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr20:16253000-16254000	Strong transcription	Primary hematopoietic stem cells	blood
38	chr20:16253000-16260800	Weak transcription	Psoas Muscle	Psoas
39	chr20:16253000-16277800	Weak transcription	Brain Angular Gyrus	brain
40	chr20:16253200-16254000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr20:16253200-16254000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr20:16253200-16254000	Strong transcription	NHEK	skin
43	chr20:16253200-16254200	Weak transcription	Fetal Kidney	kidney
44	chr20:16253400-16254000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr20:16253400-16254000	Genic enhancers	Fetal Muscle Trunk	muscle
46	chr20:16253400-16254000	Strong transcription	HepG2	liver
47	chr20:16253400-16254200	Strong transcription	Brain Hippocampus Middle	brain
48	chr20:16253400-16254200	Genic enhancers	Fetal Intestine Small	intestine
49	chr20:16253400-16255400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr20:16253400-16255600	Enhancers	Ovary	ovary

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