Variant report

Variant	rs62358056
Chromosome Location	chr5:40652142-40652143
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:40652074-40652166	Lung_OC	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000199552	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10035697	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10038251	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10038367	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10039983	0.82[AMR][1000 genomes]
rs10040364	0.81[ASN][1000 genomes]
rs10043839	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10043891	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10044538	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10053469	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10055624	0.81[ASN][1000 genomes]
rs10056173	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10057182	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10063818	0.81[ASN][1000 genomes]
rs10063864	0.81[ASN][1000 genomes]
rs10065482	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10065874	0.83[ASN][1000 genomes]
rs10065894	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10066459	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10068069	0.85[ASN][1000 genomes]
rs10071870	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10073344	0.81[ASN][1000 genomes]
rs10074117	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10473206	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10473209	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10473210	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10473211	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10473212	0.87[AMR][1000 genomes]
rs10473214	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10473216	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10941521	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10941522	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11744569	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11744700	0.81[ASN][1000 genomes]
rs11949581	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11952914	0.81[ASN][1000 genomes]
rs11955037	0.81[ASN][1000 genomes]
rs12188666	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12513529	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1395082	0.81[ASN][1000 genomes]
rs1553578	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1553579	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17238368	0.81[ASN][1000 genomes]
rs17835256	0.86[ASN][1000 genomes]
rs35693860	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs45437592	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4599576	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4957333	0.81[AMR][1000 genomes]
rs4957334	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4957336	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4957337	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4957338	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4957339	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4957343	0.85[ASN][1000 genomes]
rs62356460	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62356461	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62358796	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62358800	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6860233	0.83[ASN][1000 genomes]
rs6867169	0.81[ASN][1000 genomes]
rs6879155	0.81[ASN][1000 genomes]
rs6879329	0.81[ASN][1000 genomes]
rs6884507	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72747928	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72747930	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72747940	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7349788	0.81[ASN][1000 genomes]
rs7726047	0.81[ASN][1000 genomes]
rs9292784	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9292785	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62358056	RPL37	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40644000-40654600	Weak transcription	Small Intestine	intestine
2	chr5:40646400-40652400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:40646600-40652400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:40647200-40652400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr5:40648200-40653200	Enhancers	Primary T cells from cord blood	blood
6	chr5:40648400-40652400	Enhancers	Dnd41	blood
7	chr5:40648800-40652600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:40649800-40652600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:40650200-40652400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:40650200-40652400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:40650200-40652600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:40650200-40652800	Weak transcription	Primary B cells from cord blood	blood
13	chr5:40650200-40652800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr5:40650400-40652400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr5:40650400-40652400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:40650400-40652600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr5:40650400-40652600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr5:40650400-40652800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr5:40650400-40653400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr5:40650400-40654400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr5:40650600-40652200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:40650600-40652400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:40650800-40652200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr5:40650800-40652200	Weak transcription	Fetal Thymus	thymus
25	chr5:40650800-40652600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr5:40651200-40652400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr5:40651200-40652400	Weak transcription	Thymus	Thymus
28	chr5:40651600-40652400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr5:40651800-40652200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr5:40652000-40654000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:40652000-40654200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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