Variant report

Variant	rs2454870
Chromosome Location	chr5:80422415-80422416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs153229	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs153230	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs153231	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs153232	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs153233	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs153234	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs153235	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs153236	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs153237	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs153238	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs153239	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs153240	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs153241	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153242	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153243	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153244	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168718	0.84[ASN][1000 genomes]
rs17213885	0.83[ASN][1000 genomes]
rs173596	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs190339	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs193786	0.87[ASN][1000 genomes]
rs248980	0.92[ASN][1000 genomes]
rs248981	0.92[ASN][1000 genomes]
rs248982	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248983	0.92[ASN][1000 genomes]
rs248984	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248985	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248986	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248987	0.84[ASN][1000 genomes]
rs248988	0.87[ASN][1000 genomes]
rs248989	0.87[ASN][1000 genomes]
rs248992	0.81[ASN][1000 genomes]
rs26889	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs26890	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26891	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26892	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26893	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26894	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs26895	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26896	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs26898	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs27513	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs27558	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27781	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28820	0.83[ASN][1000 genomes]
rs34115	0.87[ASN][1000 genomes]
rs34117	0.84[ASN][1000 genomes]
rs34120	0.87[ASN][1000 genomes]
rs34121	0.87[ASN][1000 genomes]
rs34122	0.86[ASN][1000 genomes]
rs382926	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs40046	0.87[ASN][1000 genomes]
rs457365	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs466044	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58200570	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv830360	chr5:80283278-80446040	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv882232	chr5:80393949-80436584	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80375000-80422600	Weak transcription	Left Ventricle	heart
2	chr5:80404800-80428200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:80407000-80428000	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr5:80408800-80426400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:80409800-80422600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:80410600-80432400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:80410600-80446600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:80411200-80427800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:80413400-80424800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr5:80414200-80438000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:80416000-80423400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:80416600-80422800	Enhancers	Liver	Liver
13	chr5:80417800-80427200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:80417800-80428800	Weak transcription	Right Atrium	heart
15	chr5:80417800-80436200	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:80418200-80424400	Strong transcription	Primary T cells from cord blood	blood
17	chr5:80418200-80424400	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr5:80418400-80443800	Weak transcription	Brain Angular Gyrus	brain
19	chr5:80418800-80425600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:80419200-80429200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr5:80419400-80438200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr5:80420600-80422600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr5:80420600-80422800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:80421000-80425200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:80421200-80424200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr5:80421200-80424400	Strong transcription	HepG2	liver
27	chr5:80421200-80435800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:80421400-80423000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:80421800-80443600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr5:80422000-80422600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:80422000-80427200	Weak transcription	Brain Anterior Caudate	brain
32	chr5:80422000-80429000	Weak transcription	Brain Substantia Nigra	brain
33	chr5:80422000-80436200	Weak transcription	Adipose Nuclei	Adipose
34	chr5:80422000-80443400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:80422200-80422800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:80422200-80423000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr5:80422200-80436200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr5:80422400-80422800	Enhancers	Stomach Smooth Muscle	stomach
39	chr5:80422400-80423000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
40	chr5:80422400-80423000	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr5:80422400-80423400	Strong transcription	Ovary	ovary
42	chr5:80422400-80436200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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