Variant report

Variant	rs10074117
Chromosome Location	chr5:40675465-40675466
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	RPC155	chr5:40675044-40675603	Hela-S3	cervix:	n/a	n/a
2	GTF3C2	chr5:40675072-40675477	Hela-S3	cervix:	n/a	n/a
3	STAT1	chr5:40674467-40675686	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:40673402..40675876-chr5:40676322..40679263,4	K562	blood:
2	chr5:40674492..40676640-chr5:40683671..40686128,2	MCF-7	breast:

Variant related genes	Relation type
PTGER4	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10035697	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10038251	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10038367	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10039983	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10042459	0.86[AFR][1000 genomes]
rs10043839	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10043891	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10044538	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10053469	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10056173	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10057182	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10065482	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10066459	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10071870	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10473210	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10473211	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10473212	0.83[AMR][1000 genomes]
rs10473214	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10473216	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10941522	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10941525	0.83[AFR][1000 genomes]
rs11744569	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11949581	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12188666	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12513529	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1363847	0.86[AFR][1000 genomes]
rs1553578	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1553579	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35693860	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs45437592	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4599576	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4957333	0.80[ASN][1000 genomes]
rs4957334	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4957336	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4957337	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4957338	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4957339	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4957343	0.89[AFR][1000 genomes]
rs4957347	0.89[AFR][1000 genomes]
rs62356460	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62356461	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62356508	0.80[AFR][1000 genomes]
rs62358056	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62358796	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62358800	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6884507	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6888517	0.95[ASN][1000 genomes]
rs72747928	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72747930	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72747940	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9292784	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9292785	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10074117	RPL37	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40667600-40676000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:40668200-40675800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr5:40668600-40677600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr5:40668800-40677200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:40668800-40678600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:40669800-40676800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:40670800-40675800	Enhancers	Primary T cells from cord blood	blood
8	chr5:40671400-40676000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr5:40672000-40678400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr5:40672400-40677000	Weak transcription	HSMMtube	muscle
11	chr5:40672600-40675600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr5:40672600-40676200	Enhancers	Dnd41	blood
13	chr5:40672600-40676800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:40672600-40678600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:40672800-40678600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr5:40673000-40675800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:40673000-40676600	Weak transcription	Adipose Nuclei	Adipose
18	chr5:40673200-40677200	Weak transcription	Primary B cells from cord blood	blood
19	chr5:40673400-40676000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:40673400-40676600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:40673400-40678600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr5:40673400-40678600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr5:40673600-40676800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr5:40673800-40675800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr5:40673800-40676000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr5:40674400-40675600	Enhancers	Primary hematopoietic stem cells	blood
27	chr5:40674400-40676800	Enhancers	Duodenum Mucosa	Duodenum
28	chr5:40674600-40676000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:40674600-40676000	Enhancers	Stomach Mucosa	stomach
30	chr5:40674600-40677200	Enhancers	NHEK	skin
31	chr5:40674600-40678200	Enhancers	HMEC	breast
32	chr5:40674600-40678600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:40674800-40676000	Enhancers	Small Intestine	intestine
34	chr5:40674800-40677000	Enhancers	Osteobl	bone
35	chr5:40674800-40677400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr5:40674800-40678400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr5:40674800-40678400	Enhancers	Fetal Thymus	thymus
38	chr5:40675000-40675800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr5:40675000-40675800	Weak transcription	Esophagus	oesophagus
40	chr5:40675000-40676000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:40675000-40676000	Weak transcription	Gastric	stomach
42	chr5:40675000-40676800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:40675000-40677400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr5:40675000-40677600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr5:40675200-40675600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:40675200-40675600	Weak transcription	Thymus	Thymus
47	chr5:40675200-40676800	Enhancers	Hela-S3	cervix
48	chr5:40675200-40678800	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr5:40675400-40676000	Weak transcription	Fetal Intestine Small	intestine

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