Variant report

Variant	rs28519983
Chromosome Location	chr14:81381200-81381201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10083541	1.00[AMR][1000 genomes]
rs10134279	1.00[AMR][1000 genomes]
rs10140767	1.00[AMR][1000 genomes]
rs10147896	1.00[AMR][1000 genomes]
rs10149913	1.00[AMR][1000 genomes]
rs10151668	1.00[AMR][1000 genomes]
rs10220494	1.00[AMR][1000 genomes]
rs10220567	1.00[AMR][1000 genomes]
rs17111244	1.00[AMR][1000 genomes]
rs28452095	1.00[AMR][1000 genomes]
rs28603151	1.00[AMR][1000 genomes]
rs28620988	1.00[AMR][1000 genomes]
rs28695726	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28712586	1.00[AMR][1000 genomes]
rs28887590	1.00[AMR][1000 genomes]
rs4400984	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81321600-81382200	Weak transcription	Left Ventricle	heart
2	chr14:81345200-81386200	Weak transcription	Aorta	Aorta
3	chr14:81351400-81398400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:81351800-81382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:81355200-81384600	Weak transcription	Hela-S3	cervix
6	chr14:81356800-81381800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:81357800-81392600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr14:81358000-81396600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:81358600-81381400	Weak transcription	Primary T cells from cord blood	blood
10	chr14:81359200-81389600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:81359400-81406000	Weak transcription	A549	lung
12	chr14:81359600-81381800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:81359800-81396200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:81359800-81407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:81360000-81383400	Strong transcription	Dnd41	blood
16	chr14:81360200-81393800	Weak transcription	HMEC	breast
17	chr14:81362000-81384600	Weak transcription	HUVEC	blood vessel
18	chr14:81362200-81392600	Weak transcription	NH-A	brain
19	chr14:81362200-81392800	Weak transcription	Fetal Muscle Leg	muscle
20	chr14:81363400-81381800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr14:81363800-81391200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr14:81364000-81381800	Weak transcription	Liver	Liver
23	chr14:81364400-81395800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:81364400-81395800	Weak transcription	GM12878-XiMat	blood
25	chr14:81365200-81393000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr14:81366400-81382000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr14:81367000-81381400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr14:81369400-81389200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr14:81369600-81397200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr14:81370000-81381800	Weak transcription	Primary B cells from cord blood	blood
31	chr14:81370400-81393600	Weak transcription	NHEK	skin
32	chr14:81370600-81381600	Weak transcription	Pancreas	Pancrea
33	chr14:81371400-81381200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:81371600-81392800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:81372000-81392000	Weak transcription	Fetal Stomach	stomach
36	chr14:81372200-81381400	Weak transcription	Brain Germinal Matrix	brain
37	chr14:81372400-81381400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr14:81372800-81381800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:81373600-81392600	Weak transcription	Esophagus	oesophagus
40	chr14:81373800-81381400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr14:81373800-81392200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:81375400-81384000	Weak transcription	Colonic Mucosa	Colon
43	chr14:81375400-81407600	Weak transcription	Gastric	stomach
44	chr14:81375800-81392800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:81377000-81381600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr14:81378800-81382800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr14:81378800-81384400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:81378800-81389200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr14:81379000-81381600	Weak transcription	Fetal Brain Female	brain
50	chr14:81379200-81381600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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