Variant report

Variant	rs59443470
Chromosome Location	chr14:63966974-63966975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1152448	1.00[AMR][1000 genomes]
rs1152450	1.00[AMR][1000 genomes]
rs11847169	0.90[AFR][1000 genomes]
rs1255755	1.00[AMR][1000 genomes]
rs1255758	1.00[AMR][1000 genomes]
rs1255759	1.00[AMR][1000 genomes]
rs1255760	1.00[AMR][1000 genomes]
rs1472504	0.90[AFR][1000 genomes]
rs17101245	0.90[AFR][1000 genomes]
rs17101253	0.90[AFR][1000 genomes]
rs1988781	0.90[AFR][1000 genomes]
rs57530734	0.86[AFR][1000 genomes]
rs58308869	0.90[AFR][1000 genomes]
rs59282502	0.90[AFR][1000 genomes]
rs7160892	1.00[AMR][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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63939000-63976800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:63939800-63967200	Weak transcription	Fetal Intestine Small	intestine
3	chr14:63946200-63976800	Weak transcription	Small Intestine	intestine
4	chr14:63950400-63968600	Weak transcription	Fetal Muscle Leg	muscle
5	chr14:63950600-63974800	Weak transcription	Gastric	stomach
6	chr14:63950800-63975200	Weak transcription	Thymus	Thymus
7	chr14:63951000-63974800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr14:63951000-64003200	Weak transcription	Ovary	ovary
9	chr14:63951400-63967000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr14:63951400-63968800	Weak transcription	Primary T cells from cord blood	blood
11	chr14:63951400-63971400	Weak transcription	HepG2	liver
12	chr14:63952000-63974600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:63952600-63967000	Weak transcription	Fetal Intestine Large	intestine
14	chr14:63952800-63974800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr14:63953600-63976800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:63954800-63970000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:63955000-63975000	Weak transcription	Primary B cells from cord blood	blood
18	chr14:63955200-63973600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:63955200-63975000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr14:63955200-63977000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr14:63955200-63977800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr14:63955400-63973600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:63959000-63976800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr14:63959800-63969600	Weak transcription	Aorta	Aorta
25	chr14:63959800-63973600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:63960000-63971400	Weak transcription	Hela-S3	cervix
27	chr14:63960000-63978000	Weak transcription	NHLF	lung
28	chr14:63960000-63983400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:63960000-64005000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:63960200-63977000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr14:63960200-63983200	Weak transcription	NH-A	brain
32	chr14:63960200-64008600	Weak transcription	HSMMtube	muscle
33	chr14:63960400-63967000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:63960400-63969400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:63960400-63969600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:63960400-63974600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr14:63960400-63974800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:63960400-63974800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr14:63960400-63974800	Weak transcription	Fetal Thymus	thymus
40	chr14:63960400-63976600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:63960400-63980200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr14:63960400-63980600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr14:63960400-63991000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:63960600-63973400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr14:63960600-63973800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:63960600-63979800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr14:63960600-63987000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr14:63960800-63973400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:63961000-63970000	Weak transcription	NHEK	skin
50	chr14:63961000-63976800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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