Variant report

Variant	rs4314453
Chromosome Location	chr5:40671094-40671095
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2888173	0.85[EUR][1000 genomes]
rs4412150	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4434423	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4546432	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4607392	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7730020	0.85[EUR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4314453	RPL37	Cis_1M	lymphoblastoid	RTeQTL
rs4314453	TTC33	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 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	chr5:40668800-40671400	Enhancers	Dnd41	blood
6	chr5:40668800-40673800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr5:40668800-40677200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:40668800-40678600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:40669000-40674000	Enhancers	Primary hematopoietic stem cells	blood
10	chr5:40669600-40672200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr5:40669800-40676800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:40670000-40671400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:40670000-40672800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr5:40670000-40674400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr5:40670400-40671600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr5:40670400-40672400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr5:40670400-40672400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:40670400-40672400	Weak transcription	Thymus	Thymus
19	chr5:40670600-40674600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr5:40670800-40671400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:40670800-40671600	Weak transcription	Primary B cells from cord blood	blood
22	chr5:40670800-40671600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr5:40670800-40672800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr5:40670800-40673400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr5:40670800-40674000	Weak transcription	Stomach Mucosa	stomach
26	chr5:40670800-40675800	Enhancers	Primary T cells from cord blood	blood
27	chr5:40671000-40671400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr5:40671000-40672000	Weak transcription	Fetal Thymus	thymus
29	chr5:40671000-40672600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:40671000-40672600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:40671000-40672600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr5:40671000-40674800	Weak transcription	Primary T cells fromperipheralblood	blood

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