Variant report

Variant	rs13189599
Chromosome Location	chr5:80318906-80318907
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80280624..80283430-chr5:80318817..80321662,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13162418	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13173028	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13183094	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13183890	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13184251	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35961131	1.00[ASN][1000 genomes]
rs6888990	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv830358	chr5:80197105-80358920	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	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
5	nsv4897	chr5:80284196-80330223	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80311600-80323800	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr5:80311600-80325400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr5:80312200-80323600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:80312800-80320000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr5:80313400-80319400	Weak transcription	Brain Angular Gyrus	brain
6	chr5:80314400-80320800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:80315200-80319800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr5:80315600-80319600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:80316000-80319200	Weak transcription	Fetal Lung	lung
10	chr5:80316000-80321000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr5:80316200-80319800	Enhancers	Brain Substantia Nigra	brain
12	chr5:80316200-80320800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:80316400-80320000	Enhancers	Brain Cingulate Gyrus	brain
14	chr5:80316600-80321000	Enhancers	Brain Hippocampus Middle	brain
15	chr5:80316800-80322800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:80317000-80319400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:80317000-80320200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:80317400-80319600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:80317400-80321200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr5:80317400-80321400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr5:80317600-80319800	Enhancers	HepG2	liver
22	chr5:80318000-80319600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:80318000-80320000	Enhancers	Primary T cells from cord blood	blood
24	chr5:80318000-80320000	Enhancers	Adipose Nuclei	Adipose
25	chr5:80318200-80319800	Weak transcription	Fetal Stomach	stomach
26	chr5:80318400-80319600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr5:80318600-80322800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr5:80318600-80323600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:80318800-80319000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr5:80318800-80320800	Weak transcription	Left Ventricle	heart

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