Variant report

Variant	rs57018718
Chromosome Location	chr14:64594019-64594020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10047814	0.97[ASN][1000 genomes]
rs10047901	1.00[ASN][1000 genomes]
rs10136099	0.90[ASN][1000 genomes]
rs10136662	0.94[ASN][1000 genomes]
rs10137370	0.91[ASN][1000 genomes]
rs10137426	0.95[ASN][1000 genomes]
rs10137665	0.87[ASN][1000 genomes]
rs10142318	0.94[ASN][1000 genomes]
rs10142480	0.94[ASN][1000 genomes]
rs10151446	0.94[ASN][1000 genomes]
rs11158531	0.96[ASN][1000 genomes]
rs11158532	0.94[ASN][1000 genomes]
rs11849394	0.94[ASN][1000 genomes]
rs12147438	0.94[ASN][1000 genomes]
rs12587140	0.81[ASN][1000 genomes]
rs12587924	0.95[ASN][1000 genomes]
rs12590062	0.90[ASN][1000 genomes]
rs12590378	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2184288	0.96[ASN][1000 genomes]
rs34994562	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs45472593	0.96[ASN][1000 genomes]
rs57034528	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7140578	0.95[ASN][1000 genomes]
rs7158393	0.96[ASN][1000 genomes]
rs7159213	1.00[ASN][1000 genomes]
rs7160091	0.96[ASN][1000 genomes]
rs7161361	0.95[ASN][1000 genomes]
rs8003196	0.96[ASN][1000 genomes]
rs8021831	0.86[ASN][1000 genomes]
rs8023139	0.96[ASN][1000 genomes]
rs9323446	0.95[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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64544000-64616200	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr14:64562800-64596200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:64567200-64616200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:64567400-64647200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr14:64577800-64616200	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr14:64578200-64649000	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:64578600-64649000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:64579600-64611000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:64580600-64600200	Weak transcription	Stomach Mucosa	stomach
10	chr14:64581400-64613400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:64581800-64650400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:64582200-64596600	Weak transcription	Psoas Muscle	Psoas
13	chr14:64583400-64649000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr14:64583600-64605400	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr14:64583600-64611800	Strong transcription	Dnd41	blood
16	chr14:64583600-64638000	Strong transcription	Placenta	Placenta
17	chr14:64584400-64616000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:64584600-64607000	Weak transcription	HUVEC	blood vessel
19	chr14:64584600-64623000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:64584800-64605400	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr14:64585400-64613400	Weak transcription	HSMM	muscle
22	chr14:64585600-64607400	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:64585600-64615600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr14:64585800-64614400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr14:64586000-64649000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:64586200-64597400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:64586200-64602600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr14:64586400-64599600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr14:64586400-64631800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr14:64586600-64603800	Weak transcription	HSMMtube	muscle
31	chr14:64586600-64614000	Weak transcription	Fetal Heart	heart
32	chr14:64587200-64594200	Strong transcription	Fetal Intestine Small	intestine
33	chr14:64587200-64594200	Strong transcription	Fetal Stomach	stomach
34	chr14:64587200-64601200	Strong transcription	Ovary	ovary
35	chr14:64587600-64597000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:64587600-64597000	Strong transcription	Left Ventricle	heart
37	chr14:64587600-64601400	Strong transcription	Fetal Muscle Leg	muscle
38	chr14:64587800-64597600	Strong transcription	Thymus	Thymus
39	chr14:64587800-64598200	Strong transcription	Adipose Nuclei	Adipose
40	chr14:64587800-64601400	Strong transcription	Fetal Intestine Large	intestine
41	chr14:64588200-64601400	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr14:64588600-64597000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr14:64588800-64594600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr14:64588800-64598200	Strong transcription	Brain Germinal Matrix	brain
45	chr14:64588800-64611600	Strong transcription	Primary T cells from cord blood	blood
46	chr14:64590200-64596200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:64590200-64634000	Weak transcription	HepG2	liver
48	chr14:64590400-64608800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr14:64590600-64594800	Weak transcription	Primary B cells from cord blood	blood
50	chr14:64590600-64595200	Weak transcription	Primary B cells from peripheral blood	blood

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