Variant report

Variant	rs59252260
Chromosome Location	chr14:64475830-64475831
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34001379	1.00[AFR][1000 genomes]
rs35883188	0.93[AFR][1000 genomes]
rs60764532	1.00[AFR][1000 genomes]
rs61115466	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv902020	chr14:64434288-64506541	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64395000-64491000	Weak transcription	Psoas Muscle	Psoas
2	chr14:64419200-64489000	Weak transcription	Small Intestine	intestine
3	chr14:64440800-64480400	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr14:64442400-64491000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:64452400-64480600	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr14:64452600-64479200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr14:64457000-64480000	Strong transcription	Dnd41	blood
8	chr14:64457000-64502000	Strong transcription	Placenta	Placenta
9	chr14:64457000-64519200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:64457200-64476000	Strong transcription	Fetal Brain Female	brain
11	chr14:64457200-64480200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr14:64458800-64490400	Weak transcription	Colonic Mucosa	Colon
13	chr14:64459600-64478800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:64459600-64481200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr14:64460000-64481200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:64460000-64488000	Weak transcription	Pancreas	Pancrea
17	chr14:64460000-64513400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:64460600-64495000	Weak transcription	NHDF-Ad	bronchial
19	chr14:64462600-64479000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:64462600-64479000	Strong transcription	Fetal Stomach	stomach
21	chr14:64462800-64476000	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr14:64462800-64476200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:64463200-64491000	Weak transcription	Fetal Brain Male	brain
24	chr14:64464000-64488600	Weak transcription	HUVEC	blood vessel
25	chr14:64466400-64490600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr14:64466600-64490400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr14:64466600-64513200	Weak transcription	NHEK	skin
28	chr14:64466600-64593200	Weak transcription	Colon Smooth Muscle	Colon
29	chr14:64468000-64480600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:64468400-64482200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr14:64468800-64527200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:64469200-64488000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr14:64469600-64518400	Weak transcription	HMEC	breast
34	chr14:64470000-64490600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr14:64470200-64488000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr14:64470400-64478200	Weak transcription	Fetal Thymus	thymus
37	chr14:64470400-64481000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:64470400-64481000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr14:64470400-64484400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr14:64470600-64478000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr14:64470600-64487600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr14:64470800-64481000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:64471800-64476800	Weak transcription	Right Ventricle	heart
44	chr14:64471800-64481000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr14:64471800-64487000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr14:64471800-64488000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr14:64471800-64489800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:64471800-64490800	Weak transcription	Spleen	Spleen
49	chr14:64471800-64505200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr14:64472000-64484200	Weak transcription	Fetal Kidney	kidney

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