Variant report

Variant	rs28500593
Chromosome Location	chr14:63956269-63956270
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11851954	0.95[EUR][1000 genomes]
rs17225189	0.81[EUR][1000 genomes]
rs1964031	0.95[EUR][1000 genomes]
rs8013884	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS 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	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63931200-63959600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:63935400-63958800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:63938600-63962800	Weak transcription	Fetal Stomach	stomach
4	chr14:63938600-63963800	Weak transcription	Brain Hippocampus Middle	brain
5	chr14:63938800-63958800	Weak transcription	Osteobl	bone
6	chr14:63939000-63976800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:63939800-63967200	Weak transcription	Fetal Intestine Small	intestine
8	chr14:63940800-63959000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:63941200-63959200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:63941200-63959200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:63941800-63959600	Weak transcription	Esophagus	oesophagus
12	chr14:63941800-63959600	Weak transcription	Pancreas	Pancrea
13	chr14:63945600-63960000	Weak transcription	Fetal Thymus	thymus
14	chr14:63946200-63966400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:63946200-63976800	Weak transcription	Small Intestine	intestine
16	chr14:63946800-63959200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:63947800-63959600	Weak transcription	K562	blood
18	chr14:63948400-63963200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:63949400-63959400	Weak transcription	HSMM	muscle
20	chr14:63949800-63958800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr14:63950400-63956400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr14:63950400-63957200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:63950400-63957200	Weak transcription	Colon Smooth Muscle	Colon
24	chr14:63950400-63957200	Weak transcription	NHDF-Ad	bronchial
25	chr14:63950400-63961200	Weak transcription	Spleen	Spleen
26	chr14:63950400-63968600	Weak transcription	Fetal Muscle Leg	muscle
27	chr14:63950600-63959600	Weak transcription	Right Atrium	heart
28	chr14:63950600-63962800	Weak transcription	Lung	lung
29	chr14:63950600-63974800	Weak transcription	Gastric	stomach
30	chr14:63950800-63959600	Weak transcription	Aorta	Aorta
31	chr14:63950800-63975200	Weak transcription	Thymus	Thymus
32	chr14:63951000-63974800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr14:63951000-64003200	Weak transcription	Ovary	ovary
34	chr14:63951400-63956800	Weak transcription	Fetal Heart	heart
35	chr14:63951400-63967000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr14:63951400-63968800	Weak transcription	Primary T cells from cord blood	blood
37	chr14:63951400-63971400	Weak transcription	HepG2	liver
38	chr14:63951600-63957200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:63951600-63958200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:63951600-63959400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:63951800-63957400	Weak transcription	NHEK	skin
42	chr14:63951800-63958800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:63951800-63959400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:63951800-63960000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr14:63952000-63974600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:63952200-63960800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr14:63952600-63967000	Weak transcription	Fetal Intestine Large	intestine
48	chr14:63952800-63974800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr14:63953600-63959600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:63953600-63976800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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