Variant report

Variant	rs8022049
Chromosome Location	chr14:55462869-55462870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55462304..55464219-chr14:55490797..55492365,2	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1002054	0.87[JPT][hapmap]
rs10129318	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10129802	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10139354	0.89[ASN][1000 genomes]
rs10140164	0.87[CHD][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs10145268	0.87[JPT][hapmap]
rs10148100	0.87[ASN][1000 genomes]
rs10150110	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1107960	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs11158028	0.86[JPT][hapmap]
rs11158029	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11621165	0.86[JPT][hapmap]
rs11846514	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846809	0.84[ASN][1000 genomes]
rs1187876	0.85[JPT][hapmap]
rs1187877	0.87[JPT][hapmap]
rs1187883	0.93[JPT][hapmap]
rs1201378	0.87[JPT][hapmap]
rs1209087	0.87[JPT][hapmap]
rs12147796	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13379159	0.87[JPT][hapmap]
rs17128120	0.88[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17832269	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17832311	0.87[JPT][hapmap]
rs2183085	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2251366	0.87[JPT][hapmap]
rs2840268	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28446981	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28481699	0.87[ASN][1000 genomes]
rs28693954	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2878172	0.87[CHD][hapmap];0.93[JPT][hapmap]
rs2878174	1.00[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs34988865	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3742564	0.87[JPT][hapmap]
rs3759664	0.86[JPT][hapmap]
rs3783643	0.91[ASN][1000 genomes]
rs3783644	0.93[ASN][1000 genomes]
rs3783645	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3783646	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4325453	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4335711	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56164809	0.84[ASN][1000 genomes]
rs56206440	0.99[ASN][1000 genomes]
rs56335168	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57667631	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57922954	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58055971	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59323730	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60028867	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61224609	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6572992	0.82[ASN][1000 genomes]
rs6572993	0.93[ASN][1000 genomes]
rs6572994	0.94[ASN][1000 genomes]
rs6572997	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6572999	0.87[JPT][hapmap]
rs66769866	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66820631	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67395322	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67571433	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68065548	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7144652	0.87[JPT][hapmap]
rs7146285	0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7151670	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152033	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7153937	0.87[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs7157085	0.99[ASN][1000 genomes]
rs7159232	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7159933	0.98[ASN][1000 genomes]
rs72715573	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8004402	0.84[ASN][1000 genomes]
rs8005399	0.87[JPT][hapmap]
rs8005471	0.91[ASN][1000 genomes]
rs8006977	0.89[ASN][1000 genomes]
rs8007267	0.86[JPT][hapmap]
rs8008150	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8009997	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8011446	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8012152	0.86[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8012156	0.87[JPT][hapmap]
rs8013521	0.94[ASN][1000 genomes]
rs8015172	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8018800	0.99[ASN][1000 genomes]
rs8019220	0.99[ASN][1000 genomes]
rs8019390	0.91[CEU][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8020545	0.91[CEU][hapmap];0.93[JPT][hapmap]
rs8021303	0.94[ASN][1000 genomes]
rs8021370	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8022453	0.86[JPT][hapmap]
rs8023187	0.92[JPT][hapmap]
rs878944	0.82[ASN][1000 genomes]
rs9285583	0.94[ASN][1000 genomes]
rs9323275	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs943914	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9805952	0.97[ASN][1000 genomes]
rs9806049	0.81[JPT][hapmap]

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	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8022049	ATG14	cis	parietal	SCAN
rs8022049	FBXO34	cis	cerebellum	SCAN
rs8022049	RPL13AP3	cis	cerebellum	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55411000-55477000	Weak transcription	Left Ventricle	heart
2	chr14:55418600-55492200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:55419800-55480400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr14:55420000-55471600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:55421800-55481400	Weak transcription	Placenta	Placenta
6	chr14:55421800-55492800	Weak transcription	Aorta	Aorta
7	chr14:55422400-55492400	Weak transcription	Fetal Kidney	kidney
8	chr14:55424200-55476800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr14:55427200-55477400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr14:55428400-55463000	Weak transcription	Esophagus	oesophagus
11	chr14:55428400-55471200	Weak transcription	Brain Germinal Matrix	brain
12	chr14:55428400-55471400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:55429000-55492400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr14:55429600-55479000	Weak transcription	Fetal Brain Female	brain
15	chr14:55429800-55466600	Weak transcription	Primary T cells from cord blood	blood
16	chr14:55430400-55484000	Weak transcription	Lung	lung
17	chr14:55434000-55492800	Weak transcription	Primary B cells from cord blood	blood
18	chr14:55434200-55486800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr14:55437600-55483600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:55438600-55490200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr14:55439400-55485600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:55439400-55490200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr14:55439800-55479400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:55440200-55464400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr14:55442200-55492800	Weak transcription	Fetal Intestine Large	intestine
26	chr14:55442600-55480600	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr14:55443200-55471200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:55443200-55481200	Weak transcription	Pancreas	Pancrea
29	chr14:55443400-55465000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:55443400-55492200	Weak transcription	NHLF	lung
31	chr14:55443800-55465800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:55444000-55471800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:55444200-55480200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:55446000-55471400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr14:55447400-55471400	Weak transcription	Ovary	ovary
36	chr14:55447800-55484600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr14:55449800-55468200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr14:55450000-55465800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:55450000-55479800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr14:55451400-55469600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:55452200-55471400	Weak transcription	Brain Substantia Nigra	brain
42	chr14:55452600-55463400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:55453600-55465400	Weak transcription	K562	blood
44	chr14:55454000-55465600	Weak transcription	GM12878-XiMat	blood
45	chr14:55454000-55466600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr14:55454000-55471600	Weak transcription	NHEK	skin
47	chr14:55454000-55474400	Weak transcription	NHDF-Ad	bronchial
48	chr14:55454200-55492400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr14:55454400-55473800	Weak transcription	Adipose Nuclei	Adipose
50	chr14:55454800-55478800	Weak transcription	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links