Variant report

Variant	rs432617
Chromosome Location	chr5:80986436-80986437
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1023747	0.90[EUR][1000 genomes]
rs1095605	0.85[EUR][1000 genomes]
rs11957810	0.87[EUR][1000 genomes]
rs12186581	0.82[ASN][1000 genomes]
rs13156146	0.86[ASN][1000 genomes]
rs13160079	0.86[ASN][1000 genomes]
rs1347597	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1436498	0.87[EUR][1000 genomes]
rs1436499	1.00[YRI][hapmap]
rs2973338	1.00[YRI][hapmap]
rs34007998	0.86[ASN][1000 genomes]
rs365147	0.89[EUR][1000 genomes]
rs365241	0.98[ASN][1000 genomes]
rs371705	0.86[ASN][1000 genomes]
rs374479	0.98[ASN][1000 genomes]
rs380946	0.88[EUR][1000 genomes]
rs382297	1.00[YRI][hapmap]
rs382523	0.95[ASN][1000 genomes]
rs384433	1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs385332	0.90[EUR][1000 genomes]
rs385716	0.90[EUR][1000 genomes]
rs389860	0.98[ASN][1000 genomes]
rs396231	0.83[AMR][1000 genomes]
rs398666	0.86[ASN][1000 genomes]
rs399104	0.81[EUR][1000 genomes]
rs402061	0.86[ASN][1000 genomes]
rs402352	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402433	0.81[ASN][1000 genomes]
rs403777	1.00[ASN][1000 genomes]
rs403795	0.98[ASN][1000 genomes]
rs406283	0.86[ASN][1000 genomes]
rs406292	0.90[EUR][1000 genomes]
rs411520	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411990	0.98[ASN][1000 genomes]
rs418033	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs419017	0.88[EUR][1000 genomes]
rs419435	1.00[ASN][1000 genomes]
rs420202	0.98[ASN][1000 genomes]
rs420412	0.98[ASN][1000 genomes]
rs421348	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs422523	0.86[ASN][1000 genomes]
rs424762	0.86[ASN][1000 genomes]
rs424844	1.00[ASN][1000 genomes]
rs425897	0.98[ASN][1000 genomes]
rs435901	0.90[EUR][1000 genomes]
rs437417	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs438128	0.88[EUR][1000 genomes]
rs445253	0.90[EUR][1000 genomes]
rs446064	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446565	0.81[EUR][1000 genomes]
rs452314	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs453068	0.90[EUR][1000 genomes]
rs454487	0.88[EUR][1000 genomes]
rs585558	0.90[EUR][1000 genomes]
rs586695	0.86[ASN][1000 genomes]
rs682481	0.90[EUR][1000 genomes]
rs724913	1.00[YRI][hapmap]
rs827065	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs863772	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882235	chr5:80909132-81006061	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv882236	chr5:80930992-80999768	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv882237	chr5:80938489-81006061	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3345018	chr5:80972245-80998709	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3330268	chr5:80972245-81001669	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80967400-80991400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:80971200-80995800	Weak transcription	HSMMtube	muscle
3	chr5:80973400-80990000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:80976000-80996000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:80980600-80996000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr5:80981000-80989000	Weak transcription	Psoas Muscle	Psoas
7	chr5:80982200-80987000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:80982800-80988600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
9	chr5:80983800-80992400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:80983800-81011600	Weak transcription	Left Ventricle	heart
11	chr5:80984000-80996000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:80984000-81011600	Weak transcription	Lung	lung
13	chr5:80984200-80995200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:80984200-80996000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:80984200-81032000	Weak transcription	Esophagus	oesophagus
16	chr5:80984400-80987600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr5:80984400-80988800	Weak transcription	Fetal Stomach	stomach
18	chr5:80984400-81015000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:80984600-80987600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:80984600-80992200	Weak transcription	Thymus	Thymus
21	chr5:80984600-80992400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:80984600-80992600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:80984600-80995800	Weak transcription	Aorta	Aorta
24	chr5:80984800-80987600	Weak transcription	Fetal Thymus	thymus
25	chr5:80985600-80996200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr5:80985800-80986800	ZNF genes & repeats	Dnd41	blood
27	chr5:80986400-80986600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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