Variant report

Variant	rs10473216
Chromosome Location	chr5:40670008-40670009
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10035697	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10038251	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10038367	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10043839	0.82[ASN][1000 genomes]
rs10043891	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10044538	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10053469	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10056173	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10057182	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10065482	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10066459	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10071870	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10074117	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10473210	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10473211	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10473212	0.89[AMR][1000 genomes]
rs10473214	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10941522	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11744569	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11745462	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11949581	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12188666	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12513529	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1553578	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1553579	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35693860	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4599576	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4957334	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4957336	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4957337	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4957338	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4957339	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62356460	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62356461	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62358056	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62358796	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62358800	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6884507	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72747928	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72747930	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72747940	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9292784	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9292785	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880993	chr5:40521648-40682550	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases
2	nsv880539	chr5:40662257-40713645	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10473216	RPL37	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40667600-40676000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:40667800-40671200	Weak transcription	Hela-S3	cervix
3	chr5:40668200-40675800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr5:40668600-40677600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr5:40668800-40670400	Enhancers	Primary T cells from cord blood	blood
6	chr5:40668800-40671000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:40668800-40671400	Enhancers	Dnd41	blood
8	chr5:40668800-40673800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:40668800-40677200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:40668800-40678600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:40669000-40670400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr5:40669000-40670800	Enhancers	Primary B cells from cord blood	blood
13	chr5:40669000-40670800	Enhancers	Stomach Mucosa	stomach
14	chr5:40669000-40671000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr5:40669000-40671000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:40669000-40671000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr5:40669000-40674000	Enhancers	Primary hematopoietic stem cells	blood
18	chr5:40669200-40670400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr5:40669200-40670600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:40669200-40670800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr5:40669200-40671000	Enhancers	Fetal Thymus	thymus
22	chr5:40669600-40670400	Enhancers	Thymus	Thymus
23	chr5:40669600-40672200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr5:40669800-40670400	Enhancers	Primary B cells from peripheral blood	blood
25	chr5:40669800-40670400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:40669800-40670600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr5:40669800-40676800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:40670000-40670400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr5:40670000-40671400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:40670000-40672800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr5:40670000-40674400	Weak transcription	Duodenum Mucosa	Duodenum

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