Variant report

Variant	rs4358397
Chromosome Location	chr4:15698391-15698392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:15694240..15696950-chr4:15697578..15699264,2	K562	blood:
2	chr4:15697208..15699857-chr4:15706552..15708335,2	MCF-7	breast:
3	chr4:15697378..15700153-chr4:15707474..15709331,2	K562	blood:

Variant related genes	Relation type
ENSG00000109743	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12500587	0.88[ASN][1000 genomes]
rs13110674	0.89[ASN][1000 genomes]
rs4235379	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4333182	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4382032	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4698406	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs61021642	0.88[ASN][1000 genomes]
rs6414768	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6449153	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6449161	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6850169	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7688984	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7690362	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7696938	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8180240	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4358397	FBXL5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15684000-15704400	Weak transcription	Left Ventricle	heart
2	chr4:15684800-15704400	Weak transcription	Aorta	Aorta
3	chr4:15686600-15704400	Weak transcription	Thymus	Thymus
4	chr4:15687200-15701200	Weak transcription	Fetal Intestine Small	intestine
5	chr4:15688400-15703800	Weak transcription	Fetal Kidney	kidney
6	chr4:15691000-15698600	Weak transcription	Dnd41	blood
7	chr4:15691400-15698400	Weak transcription	Primary T cells from cord blood	blood
8	chr4:15691400-15698400	Weak transcription	Liver	Liver
9	chr4:15691400-15704000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:15691400-15704200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr4:15692200-15704000	Weak transcription	Brain Germinal Matrix	brain
12	chr4:15693200-15701600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr4:15693400-15702800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr4:15693600-15698800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr4:15693600-15701800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:15694200-15699000	Weak transcription	Primary B cells from cord blood	blood
17	chr4:15694800-15703800	Weak transcription	Brain Substantia Nigra	brain
18	chr4:15695400-15699400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr4:15696200-15698800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:15697600-15704000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr4:15697600-15704000	Weak transcription	HUVEC	blood vessel
22	chr4:15697600-15704200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:15697600-15704400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:15697600-15723600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:15697800-15698600	Weak transcription	A549	lung
26	chr4:15697800-15699000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:15697800-15701600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr4:15697800-15704000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:15697800-15704000	Weak transcription	Osteobl	bone
30	chr4:15698000-15703600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr4:15698000-15703800	Weak transcription	NHDF-Ad	bronchial
32	chr4:15698000-15704000	Weak transcription	NH-A	brain
33	chr4:15698200-15699200	Enhancers	Monocytes-CD14+_RO01746	blood

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