Variant report

Variant	rs12590062
Chromosome Location	chr14:64580971-64580972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10047814	0.87[ASN][1000 genomes]
rs10047815	0.88[JPT][hapmap];0.85[YRI][hapmap]
rs10047901	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10136099	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10136662	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10137370	0.96[ASN][1000 genomes]
rs10137426	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10137665	0.91[ASN][1000 genomes]
rs10142318	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10142480	0.93[ASN][1000 genomes]
rs10151446	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11158531	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11158532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11849394	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12147438	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12587140	0.91[ASN][1000 genomes]
rs12587924	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12590378	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs2184288	0.94[ASN][1000 genomes]
rs34994562	0.94[ASN][1000 genomes]
rs45472593	0.94[ASN][1000 genomes]
rs57018718	0.90[ASN][1000 genomes]
rs57034528	0.87[ASN][1000 genomes]
rs7140578	0.91[ASN][1000 genomes]
rs7158393	0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7159213	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7160091	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7161361	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8003196	0.94[ASN][1000 genomes]
rs8021831	0.91[ASN][1000 genomes]
rs8022222	0.80[ASN][1000 genomes]
rs8023139	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9323446	0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64466600-64593200	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:64519400-64592000	Weak transcription	Fetal Brain Male	brain
3	chr14:64544000-64616200	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr14:64548400-64590800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr14:64557200-64581200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:64558600-64581600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr14:64561600-64582400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:64562800-64596200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr14:64565600-64581200	Weak transcription	Colonic Mucosa	Colon
10	chr14:64565800-64588600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr14:64567200-64616200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:64567400-64647200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:64567800-64584800	Weak transcription	Fetal Heart	heart
14	chr14:64568200-64582800	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr14:64568400-64582200	Strong transcription	Dnd41	blood
16	chr14:64568800-64590000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:64569000-64587800	Weak transcription	Small Intestine	intestine
18	chr14:64570600-64581000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:64570600-64581600	Weak transcription	Gastric	stomach
20	chr14:64570800-64587600	Weak transcription	Primary B cells from cord blood	blood
21	chr14:64572200-64582200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:64572400-64581200	Weak transcription	Fetal Thymus	thymus
23	chr14:64572800-64586000	Weak transcription	Fetal Lung	lung
24	chr14:64574600-64584200	Weak transcription	HUVEC	blood vessel
25	chr14:64574600-64591800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:64574800-64586000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr14:64574800-64586200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr14:64575000-64584600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr14:64575200-64581200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:64575800-64585600	Weak transcription	Ovary	ovary
31	chr14:64577200-64582800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:64577800-64582600	Weak transcription	NHLF	lung
33	chr14:64577800-64583800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:64577800-64583800	Weak transcription	HMEC	breast
35	chr14:64577800-64616200	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr14:64578200-64649000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr14:64578600-64649000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:64578800-64581000	Active TSS	Duodenum Mucosa	Duodenum
39	chr14:64579200-64582200	Strong transcription	Brain Germinal Matrix	brain
40	chr14:64579200-64582400	Strong transcription	Primary T cells from cord blood	blood
41	chr14:64579400-64581000	Active TSS	Liver	Liver
42	chr14:64579400-64581400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
43	chr14:64579400-64581600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr14:64579600-64581000	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr14:64579600-64581200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:64579600-64581800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:64579600-64581800	Strong transcription	Fetal Kidney	kidney
48	chr14:64579600-64582000	Strong transcription	Right Ventricle	heart
49	chr14:64579600-64582200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:64579600-64582200	Strong transcription	HUES6 Cell Line	embryonic stem cell

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