Variant report

Variant	rs62355954
Chromosome Location	chr5:107142576-107142577
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	FOS	chr5:107142411-107142850	MCF10A-Er-Src	breast:	n/a	chr5:107142610-107142621 chr5:107142508-107142519
2	FOSL2	chr5:107142298-107142874	A549	lung:	n/a	chr5:107142508-107142519
3	FOS	chr5:107142419-107142814	MCF10A-Er-Src	breast:	n/a	chr5:107142610-107142621 chr5:107142508-107142519
4	E2F4	chr5:107142373-107142780	MCF10A-Er-Src	breast:	n/a	n/a
5	MAX	chr5:107142428-107142725	SK-N-SH	brain:	n/a	n/a
6	FOSL2	chr5:107142331-107142910	MCF-7	breast:	n/a	chr5:107142508-107142519
7	JUND	chr5:107142325-107142931	HCT-116	colon:	n/a	chr5:107142508-107142519 chr5:107142610-107142621
8	CEBPB	chr5:107142464-107142785	Hela-S3	cervix:	n/a	n/a
9	STAT3	chr5:107142551-107142834	MCF10A-Er-Src	breast:	n/a	n/a
10	FOSL1	chr5:107142269-107142905	HCT-116	colon:	n/a	chr5:107142508-107142519
11	STAT3	chr5:107142503-107142890	MCF10A-Er-Src	breast:	n/a	n/a
12	FOSL2	chr5:107142395-107142726	SK-N-SH	brain:	n/a	chr5:107142508-107142519
13	MAX	chr5:107142335-107142897	A549	lung:	n/a	n/a
14	JUND	chr5:107142440-107142795	Hela-S3	cervix:	n/a	chr5:107142508-107142519 chr5:107142610-107142621
15	FOS	chr5:107142337-107142925	MCF10A-Er-Src	breast:	n/a	chr5:107142610-107142621 chr5:107142508-107142519
16	FOSL2	chr5:107142481-107142769	HepG2	liver:	n/a	chr5:107142508-107142519
17	FOSL2	chr5:107142324-107142869	MCF-7	breast:	n/a	chr5:107142508-107142519
18	JUND	chr5:107142358-107142911	SK-N-SH	brain:	n/a	chr5:107142508-107142519 chr5:107142610-107142621
19	STAT3	chr5:107142461-107142897	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr5:107142346-107142846	MCF10A-Er-Src	breast:	n/a	n/a
21	MYC	chr5:107142342-107142840	MCF10A-Er-Src	breast:	n/a	n/a
22	MYC	chr5:107142355-107142843	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr5:107142405-107142839	MCF10A-Er-Src	breast:	n/a	chr5:107142610-107142621 chr5:107142508-107142519
24	FOSL1	chr5:107142380-107142870	HCT-116	colon:	n/a	chr5:107142508-107142519
25	MAX	chr5:107142374-107142834	MCF-7	breast:	n/a	n/a
26	FOSL2	chr5:107142403-107142704	A549	lung:	n/a	chr5:107142508-107142519
27	FOS	chr5:107142444-107142786	Hela-S3	cervix:	n/a	chr5:107142610-107142621 chr5:107142508-107142519
28	FOS	chr5:107142390-107143005	HUVEC	blood vessel:	n/a	chr5:107142610-107142621 chr5:107142508-107142519
29	JUND	chr5:107142472-107142706	HepG2	liver:	n/a	chr5:107142508-107142519 chr5:107142610-107142621
30	MAX	chr5:107142419-107142846	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:107141836..107143424-chr5:107150743..107153310,2	MCF-7	breast:
2	chr5:107135763..107138365-chr5:107141825..107143430,2	K562	blood:
3	chr1:69106008..69107508-chr5:107141802..107143595,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FER-10	chr5:107142478-107142625	l_2992_chr5:107142477-107144693_heart

Variant related genes	Relation type
RN7SKP122	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10515380	1.00[ASN][1000 genomes]
rs12186563	0.87[ASN][1000 genomes]
rs12187616	0.87[ASN][1000 genomes]
rs12513976	1.00[ASN][1000 genomes]
rs12520230	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17369104	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17435188	1.00[ASN][1000 genomes]
rs3842914	0.82[ASN][1000 genomes]
rs3842915	0.82[ASN][1000 genomes]
rs3843491	0.82[ASN][1000 genomes]
rs3843492	0.82[ASN][1000 genomes]
rs62355956	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6864994	0.82[ASN][1000 genomes]
rs7736608	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830440	chr5:107074116-107278905	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv969928	chr5:107132237-107143800	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1022155	chr5:107138981-107149604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62355954	FBXL17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107135400-107143000	Weak transcription	Right Atrium	heart
2	chr5:107138400-107144800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:107140200-107144200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:107140200-107144400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:107140400-107144000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:107140400-107144000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:107140400-107144200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:107140400-107148800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:107140600-107142800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr5:107140600-107144000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:107140800-107142800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:107140800-107144400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:107140800-107145000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr5:107140800-107146600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:107141000-107142800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:107141000-107143800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:107141200-107144400	Weak transcription	Dnd41	blood
18	chr5:107141400-107144200	Weak transcription	Fetal Intestine Large	intestine
19	chr5:107141400-107146000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:107141400-107146600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:107141600-107142800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr5:107141600-107143600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:107141600-107143600	Enhancers	Fetal Muscle Leg	muscle
24	chr5:107141800-107143000	Enhancers	HSMM	muscle
25	chr5:107142000-107142600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:107142000-107142800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:107142000-107143000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:107142000-107143200	Enhancers	HMEC	breast
29	chr5:107142000-107143400	Enhancers	NHDF-Ad	bronchial
30	chr5:107142000-107143600	Enhancers	HSMMtube	muscle
31	chr5:107142200-107142800	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr5:107142200-107143200	Enhancers	NH-A	brain
33	chr5:107142200-107144200	Weak transcription	Fetal Stomach	stomach
34	chr5:107142200-107144600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr5:107142400-107142600	Enhancers	NHLF	lung
36	chr5:107142400-107142800	Enhancers	A549	lung
37	chr5:107142400-107143000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:107142400-107144000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:107142400-107144400	Weak transcription	Brain Germinal Matrix	brain
40	chr5:107142400-107144800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr5:107142400-107145200	Weak transcription	Hela-S3	cervix

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