Variant report

Variant	rs10071870
Chromosome Location	chr5:40653227-40653228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10035697	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10038251	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10038367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10039983	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10040364	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10043839	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10043891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10044538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10053469	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10055624	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10056173	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10057182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10063818	0.85[ASN][1000 genomes]
rs10063864	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10064394	0.81[AFR][1000 genomes]
rs10065482	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10065874	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10065894	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10066459	0.92[CEU][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10068069	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10073344	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10074117	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10473206	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10473209	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10473210	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10473211	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10473212	0.89[AMR][1000 genomes]
rs10473214	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10473216	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10941521	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10941522	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11744569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11744700	0.85[ASN][1000 genomes]
rs11745901	0.83[ASN][1000 genomes]
rs11949581	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11952914	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11955037	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12188666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12513529	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1395082	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1553578	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1553579	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17238368	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17835256	0.89[ASN][1000 genomes]
rs35693860	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45437592	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4599576	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4957333	0.83[AMR][1000 genomes]
rs4957334	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957338	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957343	0.89[ASN][1000 genomes]
rs62356460	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62356461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62358056	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62358796	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62358800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6860233	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6867169	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6879155	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6879329	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6884507	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6892451	0.80[ASN][1000 genomes]
rs72747928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72747930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72747940	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7349788	0.85[ASN][1000 genomes]
rs7714305	0.81[AMR][1000 genomes]
rs7726047	0.85[ASN][1000 genomes]
rs9292784	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9292785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[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
rs10071870	RPL37	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40644000-40654600	Weak transcription	Small Intestine	intestine
2	chr5:40650400-40653400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr5:40650400-40654400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:40652000-40654000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:40652000-40654200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:40652200-40654000	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr5:40652200-40654000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr5:40652200-40655400	Enhancers	Fetal Thymus	thymus
9	chr5:40652400-40653400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr5:40652400-40653600	Enhancers	Duodenum Mucosa	Duodenum
11	chr5:40652400-40653600	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr5:40652400-40653600	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr5:40652400-40654000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:40652400-40654200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr5:40652400-40654200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:40652400-40654400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr5:40652400-40655600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:40652400-40655600	Enhancers	Thymus	Thymus
19	chr5:40652400-40655600	Flanking Active TSS	Dnd41	blood
20	chr5:40652600-40653400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:40652600-40653400	Enhancers	Colonic Mucosa	Colon
22	chr5:40652600-40653400	Enhancers	Fetal Intestine Large	intestine
23	chr5:40652600-40653400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr5:40652600-40653600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:40652600-40653600	Enhancers	Fetal Muscle Leg	muscle
26	chr5:40652600-40654000	Enhancers	Primary B cells from peripheral blood	blood
27	chr5:40652600-40654000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr5:40652600-40655400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr5:40652600-40655600	Enhancers	Primary hematopoietic stem cells	blood
30	chr5:40652800-40653600	Enhancers	Spleen	Spleen
31	chr5:40652800-40654200	Enhancers	Primary B cells from cord blood	blood
32	chr5:40652800-40654600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:40652800-40654800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:40653000-40654000	Enhancers	GM12878-XiMat	blood
35	chr5:40653200-40653400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:40653200-40653400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr5:40653200-40653600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr5:40653200-40653600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr5:40653200-40653800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:40653200-40653800	Flanking Active TSS	Primary T cells from cord blood	blood

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