Variant report

Variant	rs73279598
Chromosome Location	chr14:64588392-64588393
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11844444	1.00[EUR][1000 genomes]
rs11848293	1.00[EUR][1000 genomes]
rs17101671	0.86[EUR][1000 genomes]
rs17101676	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17101718	0.92[EUR][1000 genomes]
rs17179096	0.92[EUR][1000 genomes]
rs17179194	0.92[EUR][1000 genomes]
rs45453691	0.92[EUR][1000 genomes]
rs73279552	0.92[AFR][1000 genomes]
rs8022631	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9323448	0.84[EUR][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:102 , 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	chr14:64562800-64596200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:64565800-64588600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:64567200-64616200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:64567400-64647200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr14:64568800-64590000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:64574600-64591800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:64577800-64616200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr14:64578200-64649000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr14:64578600-64649000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:64579600-64611000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr14:64580400-64588400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr14:64580600-64589800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr14:64580600-64600200	Weak transcription	Stomach Mucosa	stomach
18	chr14:64581000-64592200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:64581200-64588800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:64581200-64593200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr14:64581400-64588400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr14:64581400-64592600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:64581400-64613400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:64581800-64589000	Weak transcription	Esophagus	oesophagus
25	chr14:64581800-64650400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:64582000-64589000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr14:64582000-64589000	Weak transcription	Right Ventricle	heart
28	chr14:64582000-64589200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:64582000-64589200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr14:64582200-64588800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:64582200-64588800	Weak transcription	Brain Germinal Matrix	brain
32	chr14:64582200-64588800	Weak transcription	Fetal Thymus	thymus
33	chr14:64582200-64589200	Weak transcription	Gastric	stomach
34	chr14:64582200-64589800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:64582200-64590000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:64582200-64596600	Weak transcription	Psoas Muscle	Psoas
37	chr14:64582400-64589000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr14:64582400-64589800	Weak transcription	Pancreas	Pancrea
39	chr14:64582400-64590000	Weak transcription	NHDF-Ad	bronchial
40	chr14:64582800-64589800	Weak transcription	Colonic Mucosa	Colon
41	chr14:64583400-64649000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr14:64583600-64605400	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr14:64583600-64611800	Strong transcription	Dnd41	blood
44	chr14:64583600-64638000	Strong transcription	Placenta	Placenta
45	chr14:64583800-64590400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:64584400-64589800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:64584400-64616000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:64584600-64607000	Weak transcription	HUVEC	blood vessel
49	chr14:64584600-64623000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:64584800-64605400	Strong transcription	Rectal Mucosa Donor 31	rectum

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