Variant report

Variant	rs55889457
Chromosome Location	chr8:19344056-19344057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10105464	0.87[EUR][1000 genomes]
rs10107533	0.90[ASN][1000 genomes]
rs1014481	0.90[ASN][1000 genomes]
rs1014482	0.90[ASN][1000 genomes]
rs10503650	0.82[ASN][1000 genomes]
rs11777593	0.86[EUR][1000 genomes]
rs11778525	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11780905	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11781106	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782907	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11782972	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11784776	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11787032	0.86[EUR][1000 genomes]
rs11994059	1.00[ASN][1000 genomes]
rs11994933	1.00[ASN][1000 genomes]
rs17128602	0.82[ASN][1000 genomes]
rs17128626	0.90[ASN][1000 genomes]
rs17408078	0.90[ASN][1000 genomes]
rs17408321	0.90[ASN][1000 genomes]
rs17479581	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17479749	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17480050	0.90[ASN][1000 genomes]
rs4436140	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4554481	0.87[EUR][1000 genomes]
rs4921650	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4921656	0.93[EUR][1000 genomes]
rs4921659	0.82[ASN][1000 genomes]
rs4922040	1.00[ASN][1000 genomes]
rs4922042	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4922050	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4922054	0.90[ASN][1000 genomes]
rs4922057	0.90[ASN][1000 genomes]
rs4922060	0.82[ASN][1000 genomes]
rs55637382	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55647560	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55696969	0.82[ASN][1000 genomes]
rs55851368	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55856414	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55915417	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56155045	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56163568	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57321774	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005625	0.90[ASN][1000 genomes]
rs73212558	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73212568	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73212569	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73212582	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73212587	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73212588	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73212595	0.82[ASN][1000 genomes]
rs73212598	0.82[ASN][1000 genomes]
rs73212600	0.82[ASN][1000 genomes]
rs73212602	0.82[ASN][1000 genomes]
rs73214608	0.90[ASN][1000 genomes]
rs73214610	0.90[ASN][1000 genomes]
rs7818871	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv949745	chr8:18826830-19363963	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	esv3693374	chr8:19241970-19359184	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
9	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv890623	chr8:19307051-19383697	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv890624	chr8:19319061-19456270	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19310600-19359600	Weak transcription	Ovary	ovary
2	chr8:19319600-19362800	Weak transcription	Spleen	Spleen
3	chr8:19331000-19352800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:19333400-19362200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr8:19334600-19347400	Weak transcription	Right Atrium	heart
6	chr8:19336000-19345000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr8:19338000-19351000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:19338800-19347200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:19338800-19370600	Weak transcription	Esophagus	oesophagus
10	chr8:19339000-19347800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:19339000-19351800	Weak transcription	Primary B cells from cord blood	blood
12	chr8:19339400-19352800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:19340000-19348400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr8:19340000-19352800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:19341000-19347200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:19341200-19347600	Weak transcription	Placenta	Placenta
17	chr8:19341200-19351000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:19341400-19347000	Weak transcription	Brain Angular Gyrus	brain
19	chr8:19341400-19354200	Weak transcription	Brain Substantia Nigra	brain
20	chr8:19341600-19347400	Weak transcription	Right Ventricle	heart
21	chr8:19341800-19344400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:19341800-19351600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr8:19342200-19345600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:19342600-19347600	Weak transcription	Left Ventricle	heart
25	chr8:19343000-19344600	Enhancers	Primary T cells from cord blood	blood
26	chr8:19343200-19344800	Weak transcription	A549	lung
27	chr8:19343400-19344200	Enhancers	Thymus	Thymus
28	chr8:19343600-19344400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr8:19343800-19344200	Enhancers	Brain Cingulate Gyrus	brain
30	chr8:19343800-19344600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr8:19343800-19348600	Enhancers	Fetal Brain Male	brain
32	chr8:19344000-19345200	Enhancers	Brain Anterior Caudate	brain
33	chr8:19344000-19349600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:19344000-19351800	Weak transcription	Primary T cells fromperipheralblood	blood

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