Variant report

Variant	rs45622542
Chromosome Location	chr14:20757518-20757519
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	chr14:20756758..20759737-chr14:20760668..20764234,4	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1953550	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002245	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2318863	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28436279	0.81[EUR][1000 genomes]
rs3093868	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3093871	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3093883	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3093894	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3093926	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs45583431	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56383558	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58959974	1.00[ASN][1000 genomes]
rs60052229	1.00[ASN][1000 genomes]
rs61993950	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs61993951	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs61993952	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs61993953	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs61993956	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs61993957	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61993958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61993959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995461	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995462	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995495	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995497	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995498	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995500	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995503	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995504	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995508	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995509	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995513	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995534	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995536	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995537	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995538	0.81[AMR][1000 genomes]
rs61995540	1.00[AFR][1000 genomes]
rs61995542	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995544	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995545	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995546	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72671246	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671250	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73585150	1.00[ASN][1000 genomes]
rs8010392	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1043938	chr14:20427182-20776276	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv541971	chr14:20427182-20776276	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
6	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
7	nsv869984	chr14:20732655-20776216	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
9	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20742400-20759000	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:20743600-20761800	Weak transcription	Psoas Muscle	Psoas
3	chr14:20746200-20763400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:20746400-20764000	Weak transcription	Fetal Brain Male	brain
5	chr14:20746600-20759000	Weak transcription	Brain Germinal Matrix	brain
6	chr14:20746600-20773200	Weak transcription	Stomach Mucosa	stomach
7	chr14:20747200-20759400	Weak transcription	HMEC	breast
8	chr14:20747200-20761800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr14:20747200-20766800	Weak transcription	K562	blood
10	chr14:20748000-20766600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:20749000-20757600	Weak transcription	Esophagus	oesophagus
12	chr14:20749000-20761400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr14:20749000-20763400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:20749000-20763400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:20749000-20766800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:20749200-20757600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr14:20749200-20759600	Weak transcription	HepG2	liver
18	chr14:20749200-20773400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:20754000-20763400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:20754000-20763400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:20754400-20758200	Strong transcription	HSMM	muscle
22	chr14:20754400-20770000	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:20754400-20770200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:20754400-20770800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr14:20754600-20758200	Strong transcription	Primary B cells from cord blood	blood
26	chr14:20754600-20758200	Strong transcription	Fetal Lung	lung
27	chr14:20754600-20758400	Strong transcription	Brain Hippocampus Middle	brain
28	chr14:20754600-20770400	Strong transcription	Duodenum Mucosa	Duodenum
29	chr14:20754600-20770400	Strong transcription	Dnd41	blood
30	chr14:20754800-20757600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:20754800-20761400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:20754800-20763200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr14:20754800-20770000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr14:20754800-20770000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:20754800-20770200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr14:20754800-20770400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr14:20754800-20770400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:20754800-20770400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:20754800-20770400	Strong transcription	Adipose Nuclei	Adipose
40	chr14:20754800-20770400	Strong transcription	Liver	Liver
41	chr14:20754800-20770400	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr14:20754800-20770600	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr14:20755000-20757600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:20755000-20758200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:20755000-20758200	Strong transcription	Brain Cingulate Gyrus	brain
46	chr14:20755000-20759600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:20755000-20759800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr14:20755000-20765000	Strong transcription	Brain Anterior Caudate	brain
49	chr14:20755000-20769800	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr14:20755000-20770000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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