Variant report

Variant	rs4462521
Chromosome Location	chr14:64498480-64498481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10140978	0.84[ASN][1000 genomes]
rs10146667	0.83[ASN][1000 genomes]
rs10151127	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11844088	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11844628	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1255965	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12586503	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1262241	0.84[ASN][1000 genomes]
rs1890907	0.83[ASN][1000 genomes]
rs2153477	0.83[ASN][1000 genomes]
rs2153478	0.83[ASN][1000 genomes]
rs2153481	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28572628	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28609254	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3866737	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4027405	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4275767	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4899131	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6573542	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6573544	0.84[ASN][1000 genomes]
rs7144722	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7147157	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7153376	0.84[ASN][1000 genomes]
rs7157594	0.86[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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64457000-64502000	Strong transcription	Placenta	Placenta
2	chr14:64457000-64519200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:64460000-64513400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:64466600-64513200	Weak transcription	NHEK	skin
5	chr14:64466600-64593200	Weak transcription	Colon Smooth Muscle	Colon
6	chr14:64468800-64527200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:64469600-64518400	Weak transcription	HMEC	breast
8	chr14:64471800-64505200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:64473000-64515000	Weak transcription	Hela-S3	cervix
10	chr14:64474400-64505000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:64475200-64527200	Weak transcription	Fetal Heart	heart
12	chr14:64475600-64505600	Weak transcription	Esophagus	oesophagus
13	chr14:64475600-64518400	Weak transcription	Gastric	stomach
14	chr14:64479200-64526200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:64481400-64503000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:64481400-64574000	Weak transcription	Stomach Mucosa	stomach
17	chr14:64481600-64502400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:64482200-64500200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:64482400-64503800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:64482800-64503800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:64483800-64503800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr14:64484000-64503800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr14:64484200-64500400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:64484400-64499200	Strong transcription	Primary T cells from cord blood	blood
25	chr14:64485800-64499000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:64486000-64503200	Strong transcription	Dnd41	blood
27	chr14:64486200-64501800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:64486800-64498600	Strong transcription	Duodenum Mucosa	Duodenum
29	chr14:64487000-64499200	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr14:64487200-64500400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr14:64487400-64499000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr14:64487600-64498800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr14:64487800-64499200	Strong transcription	Liver	Liver
34	chr14:64487800-64501600	Weak transcription	NHLF	lung
35	chr14:64488000-64500200	Strong transcription	Left Ventricle	heart
36	chr14:64488400-64499000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr14:64488400-64500400	Strong transcription	Fetal Muscle Leg	muscle
38	chr14:64489000-64518400	Weak transcription	HUVEC	blood vessel
39	chr14:64489200-64500200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:64489200-64526600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr14:64489400-64568600	Weak transcription	Small Intestine	intestine
42	chr14:64490000-64515800	Weak transcription	Right Ventricle	heart
43	chr14:64490200-64499200	Strong transcription	Adipose Nuclei	Adipose
44	chr14:64490200-64510000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr14:64490600-64498800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:64491200-64505000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr14:64491200-64518400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr14:64491200-64565200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr14:64492000-64518600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr14:64492200-64518400	Weak transcription	Fetal Brain Male	brain

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