Variant report

Variant	rs17566073
Chromosome Location	chr14:70795712-70795713
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12879256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12879701	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880065	0.82[EUR][1000 genomes]
rs12885170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12888630	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12889575	0.85[EUR][1000 genomes]
rs12889618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12890852	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891402	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12897297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12898006	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17475333	0.90[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17566625	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17566723	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17566814	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17566989	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34473038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34506335	0.82[EUR][1000 genomes]
rs34590849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34620351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34658788	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34981619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35034872	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35224988	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35543989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35547503	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35697534	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35997384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55812665	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66495513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67417438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67434384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17566073	RP11-718G2.3	cis	Muscle Skeletal	GTEx
rs17566073	COX16	cis	Heart Left Ventricle	GTEx
rs17566073	COX16	cis	Muscle Skeletal	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70781200-70796800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:70783400-70799200	Weak transcription	NHEK	skin
3	chr14:70783600-70798600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:70784000-70801000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:70784200-70800600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:70784600-70798600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:70784800-70798800	Weak transcription	Gastric	stomach
8	chr14:70785400-70799200	Weak transcription	Stomach Mucosa	stomach
9	chr14:70785600-70799000	Weak transcription	Psoas Muscle	Psoas
10	chr14:70786000-70799200	Weak transcription	Pancreas	Pancrea
11	chr14:70788200-70813600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:70789000-70798600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:70789200-70798600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:70789400-70798600	Weak transcription	Fetal Brain Female	brain
15	chr14:70789400-70798600	Weak transcription	Fetal Stomach	stomach
16	chr14:70789400-70798600	Weak transcription	Spleen	Spleen
17	chr14:70789400-70798800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:70789400-70799000	Weak transcription	Right Ventricle	heart
19	chr14:70789800-70798800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:70790000-70797600	Weak transcription	NHDF-Ad	bronchial
21	chr14:70790000-70798600	Weak transcription	Thymus	Thymus
22	chr14:70790200-70798600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr14:70790400-70796600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:70790400-70799000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:70790400-70799200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:70790600-70796000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr14:70790600-70798600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:70790600-70798800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr14:70790600-70799400	Weak transcription	Brain Anterior Caudate	brain
30	chr14:70790800-70796000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:70790800-70796200	Strong transcription	HSMM	muscle
32	chr14:70790800-70798600	Weak transcription	Esophagus	oesophagus
33	chr14:70791000-70795800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:70791000-70796200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr14:70791000-70798800	Weak transcription	Colonic Mucosa	Colon
36	chr14:70791000-70799800	Weak transcription	Fetal Heart	heart
37	chr14:70791200-70795800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:70791200-70808600	Weak transcription	HUVEC	blood vessel
39	chr14:70791400-70796000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr14:70791400-70799000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:70791400-70799600	Weak transcription	NHLF	lung
42	chr14:70791600-70799400	Weak transcription	Fetal Brain Male	brain
43	chr14:70791800-70796200	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr14:70791800-70796200	Strong transcription	Dnd41	blood
45	chr14:70792000-70796400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:70792000-70796600	Strong transcription	Primary hematopoietic stem cells	blood
47	chr14:70792000-70809800	Weak transcription	Hela-S3	cervix
48	chr14:70792200-70795800	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr14:70792200-70798600	Weak transcription	Colon Smooth Muscle	Colon
50	chr14:70792400-70798800	Weak transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links