Variant report

Variant	rs6888517
Chromosome Location	chr5:40676570-40676571
allele	A/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	REST	chr5:40676423-40677666	H1-neurons	neurons:	n/a	chr5:40676976-40676986

No.	Distal block	Cell Line	Cell type
1	chr5:40674492..40676640-chr5:40683671..40686128,2	MCF-7	breast:
2	chr5:40673402..40675876-chr5:40676322..40679263,4	K562	blood:
3	chr5:40676137..40677874-chr5:40679595..40681431,2	K562	blood:

Variant related genes	Relation type
PTGER4	TF binding region
ENSG00000171522	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10039983	0.86[ASN][1000 genomes]
rs10074117	0.95[ASN][1000 genomes]
rs45437592	0.83[ASN][1000 genomes]
rs4957333	0.81[ASN][1000 genomes]
rs9292784	0.82[ASN][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
rs6888517	RPL37	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40668600-40677600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr5:40668800-40677200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:40668800-40678600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:40669800-40676800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:40672000-40678400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr5:40672400-40677000	Weak transcription	HSMMtube	muscle
7	chr5:40672600-40676800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:40672600-40678600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:40672800-40678600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr5:40673000-40676600	Weak transcription	Adipose Nuclei	Adipose
11	chr5:40673200-40677200	Weak transcription	Primary B cells from cord blood	blood
12	chr5:40673400-40676600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:40673400-40678600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr5:40673400-40678600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr5:40673600-40676800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr5:40674400-40676800	Enhancers	Duodenum Mucosa	Duodenum
17	chr5:40674600-40677200	Enhancers	NHEK	skin
18	chr5:40674600-40678200	Enhancers	HMEC	breast
19	chr5:40674600-40678600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:40674800-40677000	Enhancers	Osteobl	bone
21	chr5:40674800-40677400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr5:40674800-40678400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:40674800-40678400	Enhancers	Fetal Thymus	thymus
24	chr5:40675000-40676800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:40675000-40677400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:40675000-40677600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr5:40675200-40676800	Enhancers	Hela-S3	cervix
28	chr5:40675200-40678800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr5:40675600-40677200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:40675600-40678200	Enhancers	Thymus	Thymus
31	chr5:40675800-40676800	Weak transcription	NH-A	brain
32	chr5:40675800-40677000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:40675800-40677400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:40675800-40678400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr5:40675800-40679000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:40676000-40676800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:40676000-40676800	Weak transcription	Stomach Mucosa	stomach
38	chr5:40676000-40677000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr5:40676000-40677000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:40676000-40677000	Weak transcription	Small Intestine	intestine
41	chr5:40676000-40677200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:40676000-40677200	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr5:40676000-40678200	Enhancers	Fetal Intestine Small	intestine
44	chr5:40676000-40678800	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr5:40676000-40679000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:40676000-40679000	Weak transcription	Esophagus	oesophagus
47	chr5:40676200-40676600	Weak transcription	Gastric	stomach
48	chr5:40676200-40676600	Weak transcription	HSMM	muscle
49	chr5:40676200-40676800	Enhancers	HUVEC	blood vessel
50	chr5:40676200-40677800	Enhancers	Primary hematopoietic stem cells	blood

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