Variant report

Variant	rs10043839
Chromosome Location	chr5:40684105-40684106
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:40674492..40676640-chr5:40683671..40686128,2	MCF-7	breast:
2	chr5:40683649..40685431-chr5:40686682..40688286,2	K562	blood:
3	chr5:40677704..40682849-chr5:40683671..40689280,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171522	Chromatin interaction

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

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

rs_ID	r²[population]
rs10035697	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10038251	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10038367	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10039983	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10040364	0.84[ASN][1000 genomes]
rs10042459	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10043891	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10044538	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10053469	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10055624	0.84[ASN][1000 genomes]
rs10056173	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10057182	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10063818	0.84[ASN][1000 genomes]
rs10063864	0.84[ASN][1000 genomes]
rs10065482	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10065874	0.86[ASN][1000 genomes]
rs10065894	0.84[ASN][1000 genomes]
rs10066459	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10068069	0.87[ASN][1000 genomes]
rs10071870	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10073344	0.84[ASN][1000 genomes]
rs10074117	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10473206	0.86[ASN][1000 genomes]
rs10473209	0.85[ASN][1000 genomes]
rs10473210	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10473211	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10473214	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10473216	0.82[ASN][1000 genomes]
rs10941521	0.86[ASN][1000 genomes]
rs10941522	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11744569	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11744700	0.84[ASN][1000 genomes]
rs11745901	0.82[ASN][1000 genomes]
rs11949581	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11952914	0.84[ASN][1000 genomes]
rs11955037	0.84[ASN][1000 genomes]
rs12188666	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12513529	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1363847	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1395082	0.84[ASN][1000 genomes]
rs1553578	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1553579	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17238368	0.84[ASN][1000 genomes]
rs17835256	0.92[ASN][1000 genomes]
rs35693860	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs45437592	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4599576	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4957334	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4957336	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4957337	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4957338	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4957339	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4957343	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4957347	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62356460	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62356461	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62356468	0.81[AMR][1000 genomes]
rs62358056	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62358796	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62358800	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6860233	0.86[ASN][1000 genomes]
rs6867169	0.84[ASN][1000 genomes]
rs6879155	0.84[ASN][1000 genomes]
rs6879329	0.84[ASN][1000 genomes]
rs6884507	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72747928	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72747930	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72747940	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72747952	0.81[ASN][1000 genomes]
rs7349788	0.84[ASN][1000 genomes]
rs7726047	0.84[ASN][1000 genomes]
rs9292784	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9292785	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[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	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
rs10043839	RPL37	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40678400-40684600	Active TSS	HSMMtube	muscle
2	chr5:40678600-40684400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr5:40678600-40685800	Active TSS	Right Atrium	heart
4	chr5:40679000-40685600	Active TSS	Colon Smooth Muscle	Colon
5	chr5:40679000-40689400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:40679200-40684600	Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr5:40679200-40684800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:40679200-40685000	Active TSS	NHLF	lung
9	chr5:40679400-40684400	Active TSS	Primary T cells fromperipheralblood	blood
10	chr5:40679400-40684400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:40680000-40685000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:40680200-40689600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
13	chr5:40680800-40685200	Weak transcription	A549	lung
14	chr5:40680800-40690800	Transcr. at gene 5' and 3'	Dnd41	blood
15	chr5:40681400-40684600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
16	chr5:40681600-40684600	Active TSS	Fetal Kidney	kidney
17	chr5:40681600-40685200	Active TSS	Fetal Thymus	thymus
18	chr5:40681800-40685800	Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr5:40682000-40684600	Active TSS	Right Ventricle	heart
20	chr5:40682000-40685200	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr5:40682000-40685600	Active TSS	Stomach Smooth Muscle	stomach
22	chr5:40682000-40685800	Active TSS	Colonic Mucosa	Colon
23	chr5:40682000-40687200	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr5:40682200-40685400	Active TSS	Duodenum Mucosa	Duodenum
25	chr5:40682200-40686400	Active TSS	Rectal Smooth Muscle	rectum
26	chr5:40682400-40684600	Active TSS	Fetal Intestine Small	intestine
27	chr5:40682400-40684600	Active TSS	Fetal Stomach	stomach
28	chr5:40682400-40684800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:40682400-40685200	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr5:40682400-40685400	Active TSS	Fetal Muscle Leg	muscle
31	chr5:40682400-40685800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr5:40682400-40691400	Weak transcription	Spleen	Spleen
33	chr5:40682600-40684400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:40682600-40685200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:40682800-40684400	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr5:40682800-40685400	Flanking Active TSS	NHEK	skin
37	chr5:40682800-40685800	Active TSS	Psoas Muscle	Psoas
38	chr5:40682800-40688800	Active TSS	Thymus	Thymus
39	chr5:40682800-40691400	Weak transcription	Lung	lung
40	chr5:40683000-40685200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:40683000-40685400	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr5:40683000-40688600	Weak transcription	NHDF-Ad	bronchial
43	chr5:40683000-40688800	Enhancers	Primary B cells from peripheral blood	blood
44	chr5:40683000-40691600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:40683000-40691600	Weak transcription	Esophagus	oesophagus
46	chr5:40683000-40692000	Weak transcription	Gastric	stomach
47	chr5:40683200-40684800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr5:40683400-40686000	Transcr. at gene 5' and 3'	HUVEC	blood vessel
49	chr5:40683400-40688000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:40683600-40688800	Enhancers	Fetal Lung	lung

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