Variant report

Variant	rs4922060
Chromosome Location	chr8:19408508-19408509
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10098467	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10107533	1.00[CHB][hapmap];0.89[MEX][hapmap];0.91[ASN][1000 genomes]
rs1014481	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs1014482	0.85[TSI][hapmap];0.91[ASN][1000 genomes]
rs10503650	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781106	0.82[ASN][1000 genomes]
rs11784776	0.82[ASN][1000 genomes]
rs11994059	0.82[ASN][1000 genomes]
rs11994933	0.82[ASN][1000 genomes]
rs17128602	0.81[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128621	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17128626	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17128650	0.91[CEU][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17408078	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs17408321	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17479581	0.82[ASN][1000 genomes]
rs17479749	0.82[ASN][1000 genomes]
rs17480050	1.00[CHB][hapmap];0.85[TSI][hapmap];0.91[ASN][1000 genomes]
rs17480272	1.00[CEU][hapmap]
rs28522702	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs41332747	0.86[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.83[TSI][hapmap]
rs4344101	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4601324	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4921650	1.00[CHB][hapmap]
rs4921659	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4921660	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4922040	0.82[ASN][1000 genomes]
rs4922042	0.82[ASN][1000 genomes]
rs4922050	0.82[ASN][1000 genomes]
rs4922054	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs4922057	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4922061	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs55637382	0.82[ASN][1000 genomes]
rs55696969	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55851368	0.82[ASN][1000 genomes]
rs55856414	0.82[ASN][1000 genomes]
rs55889457	0.82[ASN][1000 genomes]
rs56163568	0.82[ASN][1000 genomes]
rs57321774	0.82[ASN][1000 genomes]
rs7005625	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs73212558	0.82[ASN][1000 genomes]
rs73212568	0.82[ASN][1000 genomes]
rs73212569	0.82[ASN][1000 genomes]
rs73212582	0.82[ASN][1000 genomes]
rs73212595	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73212598	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73212600	1.00[ASN][1000 genomes]
rs73212602	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214608	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73214610	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73214611	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73214622	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73214624	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73214628	0.86[AMR][1000 genomes]
rs7818871	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv610753	chr8:19364883-19439977	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1018057	chr8:19370830-19435399	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1016276	chr8:19374998-19435147	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1024012	chr8:19377703-19409791	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv890626	chr8:19383697-19483259	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr8:19379400-19434200	Weak transcription	Placenta	Placenta
2	chr8:19396400-19408800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:19398400-19410400	Weak transcription	Aorta	Aorta
4	chr8:19398400-19411800	Weak transcription	Primary B cells from cord blood	blood
5	chr8:19398800-19408800	Weak transcription	Left Ventricle	heart
6	chr8:19401400-19434000	Weak transcription	Hela-S3	cervix
7	chr8:19401600-19413000	Weak transcription	Brain Anterior Caudate	brain
8	chr8:19402400-19415000	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:19405200-19408800	Weak transcription	Right Atrium	heart
10	chr8:19405600-19408600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:19406400-19409000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr8:19407200-19409200	Enhancers	Thymus	Thymus
13	chr8:19407400-19410200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:19407600-19409200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:19407600-19409200	Enhancers	Fetal Thymus	thymus
16	chr8:19407800-19410400	Enhancers	Primary T cells from cord blood	blood
17	chr8:19408000-19409200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr8:19408000-19409200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr8:19408000-19409200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr8:19408000-19409400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:19408200-19409200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:19408200-19409200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr8:19408200-19409200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr8:19408200-19409800	Weak transcription	A549	lung
25	chr8:19408400-19409000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr8:19408400-19409000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:19408400-19409200	Enhancers	Primary T cells fromperipheralblood	blood
28	chr8:19408400-19409200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr8:19408400-19409200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:19408400-19409200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:19408400-19409200	Enhancers	Brain Substantia Nigra	brain
32	chr8:19408400-19409200	Enhancers	Fetal Lung	lung
33	chr8:19408400-19409400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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