Variant report

Variant	rs8019220
Chromosome Location	chr14:55453469-55453470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1002054	0.87[JPT][hapmap]
rs10129318	0.87[ASN][1000 genomes]
rs10129802	0.85[ASN][1000 genomes]
rs10136972	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10137071	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10139354	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10140164	0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs10145268	0.87[JPT][hapmap]
rs10148100	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10150110	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107960	0.83[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11158028	0.86[JPT][hapmap]
rs11158029	0.88[ASN][1000 genomes]
rs11621165	0.87[JPT][hapmap]
rs11628304	0.83[AMR][1000 genomes]
rs11846514	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11846809	0.85[ASN][1000 genomes]
rs1187876	0.86[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[ASN][1000 genomes]
rs13379159	0.87[JPT][hapmap]
rs17128120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17253633	0.81[JPT][hapmap]
rs17832269	0.94[ASN][1000 genomes]
rs17832311	0.87[JPT][hapmap]
rs2149482	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2183081	0.80[CEU][hapmap]
rs2183085	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2251366	0.87[JPT][hapmap]
rs2840268	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28446981	0.88[ASN][1000 genomes]
rs28481699	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28693954	0.88[ASN][1000 genomes]
rs2878172	0.93[JPT][hapmap]
rs2878174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs34988865	0.91[ASN][1000 genomes]
rs3742564	0.87[JPT][hapmap]
rs3759664	0.86[JPT][hapmap]
rs3759665	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3783643	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3783644	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783645	0.87[ASN][1000 genomes]
rs3783646	0.87[ASN][1000 genomes]
rs4325453	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4335711	0.88[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs56164809	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56206440	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56335168	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57667631	0.92[ASN][1000 genomes]
rs57922954	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58055971	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59323730	0.97[ASN][1000 genomes]
rs60028867	0.83[ASN][1000 genomes]
rs61224609	0.86[ASN][1000 genomes]
rs6572992	0.83[ASN][1000 genomes]
rs6572993	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6572994	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6572997	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6572999	0.87[JPT][hapmap]
rs66769866	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66820631	0.92[ASN][1000 genomes]
rs67395322	0.87[ASN][1000 genomes]
rs67571433	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68065548	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7144652	0.87[JPT][hapmap]
rs7146285	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7147286	0.81[CEU][hapmap]
rs7151670	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7152033	0.81[ASN][1000 genomes]
rs7153937	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7157085	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159232	0.92[ASN][1000 genomes]
rs7159933	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7159953	0.82[EUR][1000 genomes]
rs72715573	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004402	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8005399	0.87[JPT][hapmap]
rs8005471	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8006977	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8007267	0.86[JPT][hapmap]
rs8008150	0.88[ASN][1000 genomes]
rs8009997	0.94[ASN][1000 genomes]
rs8011446	0.94[ASN][1000 genomes]
rs8012152	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8012156	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs8013521	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8015172	0.93[ASN][1000 genomes]
rs8018800	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019390	0.81[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs8020545	0.81[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap]
rs8021303	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8021370	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8022049	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs8022453	0.86[JPT][hapmap]
rs8023187	0.92[JPT][hapmap]
rs878944	0.83[ASN][1000 genomes]
rs9285583	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9323275	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs943914	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9805952	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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

No data

Chromatin state (count:92 , 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	chr14:55428400-55457800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:55428400-55463000	Weak transcription	Esophagus	oesophagus
12	chr14:55428400-55471200	Weak transcription	Brain Germinal Matrix	brain
13	chr14:55428400-55471400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:55429000-55492400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr14:55429400-55457400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:55429600-55479000	Weak transcription	Fetal Brain Female	brain
17	chr14:55429800-55453800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:55429800-55466600	Weak transcription	Primary T cells from cord blood	blood
19	chr14:55430400-55484000	Weak transcription	Lung	lung
20	chr14:55434000-55492800	Weak transcription	Primary B cells from cord blood	blood
21	chr14:55434200-55486800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr14:55437600-55483600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:55438600-55490200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr14:55439400-55460000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:55439400-55485600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:55439400-55490200	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:55439800-55479400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:55440200-55464400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr14:55441400-55460400	Strong transcription	Dnd41	blood
30	chr14:55442200-55492800	Weak transcription	Fetal Intestine Large	intestine
31	chr14:55442600-55480600	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr14:55443200-55471200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:55443200-55481200	Weak transcription	Pancreas	Pancrea
34	chr14:55443400-55453600	Weak transcription	HepG2	liver
35	chr14:55443400-55454400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr14:55443400-55465000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:55443400-55492200	Weak transcription	NHLF	lung
38	chr14:55443800-55457400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:55443800-55465800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:55444000-55454600	Weak transcription	HSMM	muscle
41	chr14:55444000-55457400	Weak transcription	NH-A	brain
42	chr14:55444000-55457600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr14:55444000-55471800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:55444200-55480200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:55444400-55455600	Weak transcription	HUVEC	blood vessel
46	chr14:55444400-55457400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr14:55445000-55459600	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr14:55445000-55459600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr14:55445000-55460400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:55445200-55456000	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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