Variant report

Variant	rs8016043
Chromosome Location	chr14:64502019-64502020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10132638	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10138253	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10140978	0.81[JPT][hapmap]
rs10145787	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10151127	0.91[CEU][hapmap];0.81[JPT][hapmap]
rs11621129	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622913	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1255954	0.92[CEU][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1255957	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1255959	0.84[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1255962	0.91[ASN][1000 genomes]
rs1255963	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1255965	0.83[CEU][hapmap];0.81[JPT][hapmap]
rs1255966	0.92[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1255967	0.92[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1255969	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1255970	0.93[ASN][1000 genomes]
rs1255971	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1255972	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1255974	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1255975	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1262240	0.92[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1266925	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1954051	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2153476	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2185453	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2357342	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2357343	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2357344	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2357345	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28607037	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28669707	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2884158	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3829767	0.92[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4027402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4027403	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4027404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs4027405	0.91[CEU][hapmap]
rs4566057	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4617770	0.84[EUR][1000 genomes]
rs4899132	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902264	1.00[CEU][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6573543	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158401	0.92[CEU][hapmap]
rs7158815	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8010699	0.92[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8010911	0.92[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8011969	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs963289	0.92[CEU][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9783605	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv902020	chr14:64434288-64506541	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1821411	chr14:64488037-64506541	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64457000-64519200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr14:64460000-64513400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:64466600-64513200	Weak transcription	NHEK	skin
4	chr14:64466600-64593200	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:64468800-64527200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:64469600-64518400	Weak transcription	HMEC	breast
7	chr14:64471800-64505200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:64473000-64515000	Weak transcription	Hela-S3	cervix
9	chr14:64474400-64505000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:64475200-64527200	Weak transcription	Fetal Heart	heart
11	chr14:64475600-64505600	Weak transcription	Esophagus	oesophagus
12	chr14:64475600-64518400	Weak transcription	Gastric	stomach
13	chr14:64479200-64526200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:64481400-64503000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:64481400-64574000	Weak transcription	Stomach Mucosa	stomach
16	chr14:64481600-64502400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:64482400-64503800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr14:64482800-64503800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr14:64483800-64503800	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr14:64484000-64503800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr14:64486000-64503200	Strong transcription	Dnd41	blood
22	chr14:64489000-64518400	Weak transcription	HUVEC	blood vessel
23	chr14:64489200-64526600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr14:64489400-64568600	Weak transcription	Small Intestine	intestine
25	chr14:64490000-64515800	Weak transcription	Right Ventricle	heart
26	chr14:64490200-64510000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr14:64491200-64505000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr14:64491200-64518400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr14:64491200-64565200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr14:64492000-64518600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr14:64492200-64518400	Weak transcription	Fetal Brain Male	brain
32	chr14:64492200-64547400	Weak transcription	Colonic Mucosa	Colon
33	chr14:64492400-64505800	Weak transcription	Psoas Muscle	Psoas
34	chr14:64492400-64518600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr14:64492600-64513200	Weak transcription	Aorta	Aorta
36	chr14:64492600-64513400	Weak transcription	Spleen	Spleen
37	chr14:64493000-64503400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:64493600-64513000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:64495000-64505000	Weak transcription	Lung	lung
40	chr14:64495600-64505000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr14:64495800-64510400	Weak transcription	Pancreas	Pancrea
42	chr14:64498200-64505600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:64498200-64516600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr14:64498600-64503600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr14:64498600-64518400	Weak transcription	Primary B cells from cord blood	blood
46	chr14:64498800-64503000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr14:64498800-64503200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr14:64498800-64504800	Weak transcription	Fetal Intestine Large	intestine
49	chr14:64498800-64512800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr14:64498800-64518400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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