Variant report

Variant	rs13340388
Chromosome Location	chr5:80428201-80428202
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs13361744	1.00[EUR][1000 genomes]
rs34039392	1.00[EUR][1000 genomes]
rs56157507	1.00[EUR][1000 genomes]
rs58071944	1.00[EUR][1000 genomes]
rs59441376	1.00[EUR][1000 genomes]
rs59626246	1.00[EUR][1000 genomes]
rs59719994	1.00[EUR][1000 genomes]
rs60064859	1.00[EUR][1000 genomes]
rs61194622	1.00[EUR][1000 genomes]
rs61629530	1.00[EUR][1000 genomes]
rs6870928	1.00[EUR][1000 genomes]
rs73128867	1.00[EUR][1000 genomes]
rs73766146	1.00[EUR][1000 genomes]
rs73766153	1.00[EUR][1000 genomes]
rs73766159	1.00[EUR][1000 genomes]
rs73766199	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73768003	1.00[EUR][1000 genomes]
rs9293834	1.00[EUR][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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80410600-80432400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr5:80410600-80446600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:80414200-80438000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:80417800-80428800	Weak transcription	Right Atrium	heart
5	chr5:80417800-80436200	Weak transcription	Brain Hippocampus Middle	brain
6	chr5:80418400-80443800	Weak transcription	Brain Angular Gyrus	brain
7	chr5:80419200-80429200	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr5:80419400-80438200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr5:80421200-80435800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:80421800-80443600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:80422000-80429000	Weak transcription	Brain Substantia Nigra	brain
12	chr5:80422000-80436200	Weak transcription	Adipose Nuclei	Adipose
13	chr5:80422000-80443400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr5:80422200-80436200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:80422400-80436200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:80423000-80451400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr5:80423400-80436200	Weak transcription	Ovary	ovary
18	chr5:80423400-80436400	Weak transcription	Left Ventricle	heart
19	chr5:80423400-80443800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:80424200-80433800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:80424400-80434400	Weak transcription	HepG2	liver
22	chr5:80424400-80443800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr5:80424400-80445000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:80425200-80428400	Strong transcription	Primary T cells from cord blood	blood
25	chr5:80425600-80428400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr5:80426400-80443800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr5:80426800-80434000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr5:80426800-80436200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:80427200-80430800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:80428000-80428400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:80428000-80428600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr5:80428000-80432400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr5:80428200-80428600	Enhancers	HUES6 Cell Line	embryonic stem cell

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