Variant report

Variant	rs1255980
Chromosome Location	chr14:64650849-64650850
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1152598	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1152600	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1255981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1255982	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1255983	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255985	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1255989	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1255993	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1255994	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1255996	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1266926	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1271028	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61984372	0.83[AFR][1000 genomes]
rs61987285	0.83[AFR][1000 genomes]
rs61987287	0.83[AFR][1000 genomes]
rs61987288	0.83[AFR][1000 genomes]
rs61987291	0.83[AFR][1000 genomes]
rs61987294	0.83[AFR][1000 genomes]
rs61987295	0.83[AFR][1000 genomes]
rs61987297	0.83[AFR][1000 genomes]
rs61987298	0.83[AFR][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	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
4	nsv902021	chr14:64647646-64715794	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64594600-64653200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:64596400-64653000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:64600600-64667400	Weak transcription	Stomach Mucosa	stomach
4	chr14:64609800-64653000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:64610600-64651000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:64620000-64651200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:64620400-64653000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:64625000-64658000	Weak transcription	HUVEC	blood vessel
9	chr14:64627200-64660400	Weak transcription	Fetal Heart	heart
10	chr14:64636400-64658400	Weak transcription	HMEC	breast
11	chr14:64636800-64662600	Weak transcription	Psoas Muscle	Psoas
12	chr14:64637400-64656800	Weak transcription	Hela-S3	cervix
13	chr14:64637400-64663600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:64637600-64655200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr14:64639000-64655000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:64639200-64658000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:64639400-64652800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr14:64639800-64653000	Weak transcription	Esophagus	oesophagus
19	chr14:64640000-64663400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr14:64640200-64658000	Weak transcription	NHEK	skin
21	chr14:64642800-64654600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:64643400-64651000	Weak transcription	Fetal Kidney	kidney
23	chr14:64644600-64658800	Weak transcription	NHLF	lung
24	chr14:64645200-64651000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr14:64645200-64661000	Weak transcription	Primary B cells from cord blood	blood
26	chr14:64645400-64651400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:64645400-64653200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:64645400-64655400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:64645600-64652600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:64645600-64653200	Weak transcription	Gastric	stomach
31	chr14:64645800-64651000	Weak transcription	Lung	lung
32	chr14:64645800-64661400	Weak transcription	Small Intestine	intestine
33	chr14:64645800-64663600	Weak transcription	Colonic Mucosa	Colon
34	chr14:64646000-64652600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:64646200-64651000	Weak transcription	Fetal Stomach	stomach
36	chr14:64646200-64651000	Weak transcription	Ovary	ovary
37	chr14:64646200-64656200	Weak transcription	Fetal Thymus	thymus
38	chr14:64647000-64651000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:64647000-64653000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr14:64647000-64653000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:64647000-64655400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:64647200-64651600	Weak transcription	GM12878-XiMat	blood
43	chr14:64647200-64652800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr14:64647800-64651800	Strong transcription	Thymus	Thymus
45	chr14:64647800-64652200	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr14:64648000-64654200	Weak transcription	Brain Substantia Nigra	brain
47	chr14:64648800-64651000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr14:64648800-64652000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
49	chr14:64648800-64653000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr14:64649000-64651000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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