Variant report

Variant	rs8180240
Chromosome Location	chr4:15701575-15701576
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	HNF4A	chr4:15701349-15701897	HepG2	liver:	n/a	chr4:15701607-15701622
2	FOXA2	chr4:15701506-15701880	HepG2	liver:	n/a	n/a
3	EP300	chr4:15701411-15701790	HepG2	liver:	n/a	chr4:15701712-15701722
4	FOXA1	chr4:15701480-15701999	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:15701478-15701993	HepG2	liver:	n/a	n/a
6	FOXA1	chr4:15701472-15702003	HepG2	liver:	n/a	n/a
7	FOXA1	chr4:15701397-15701883	HepG2	liver:	n/a	n/a
8	MYBL2	chr4:15701326-15701902	HepG2	liver:	n/a	n/a
9	TCF12	chr4:15701500-15701712	HepG2	liver:	n/a	n/a
10	HNF4A	chr4:15701493-15701831	HepG2	liver:	n/a	chr4:15701607-15701622
11	FOXA2	chr4:15701570-15702032	A549	lung:	n/a	n/a
12	FOXA2	chr4:15701443-15702051	HepG2	liver:	n/a	n/a
13	EP300	chr4:15701493-15701813	HepG2	liver:	n/a	chr4:15701712-15701722
14	HNF4G	chr4:15701440-15701712	HepG2	liver:	n/a	chr4:15701606-15701621
15	NFIC	chr4:15701465-15702002	HepG2	liver:	n/a	n/a
16	FOXA1	chr4:15701418-15701954	HepG2	liver:	n/a	n/a
17	SP1	chr4:15701418-15701951	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
BST1	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10008975	0.81[AFR][1000 genomes]
rs12500587	0.91[ASN][1000 genomes]
rs12651550	0.81[AFR][1000 genomes]
rs13110674	0.92[ASN][1000 genomes]
rs1789	0.80[AFR][1000 genomes]
rs35414597	0.81[ASN][1000 genomes]
rs4235379	0.91[ASN][1000 genomes]
rs4333182	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4358397	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4382032	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4698402	0.81[AFR][1000 genomes]
rs4698406	0.85[ASN][1000 genomes]
rs4698407	0.81[AFR][1000 genomes]
rs4698409	0.83[AFR][1000 genomes]
rs61021642	0.91[ASN][1000 genomes]
rs6414765	0.81[AFR][1000 genomes]
rs6414768	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6449153	0.86[ASN][1000 genomes]
rs6449161	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6850169	0.87[ASN][1000 genomes]
rs6850422	0.82[AFR][1000 genomes]
rs7688984	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7690362	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7696938	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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
rs8180240	FBXL5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:34 , 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	chr4:15688400-15703800	Weak transcription	Fetal Kidney	kidney
5	chr4:15691400-15704000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:15691400-15704200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr4:15692200-15704000	Weak transcription	Brain Germinal Matrix	brain
8	chr4:15693200-15701600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:15693400-15702800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:15693600-15701800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:15694800-15703800	Weak transcription	Brain Substantia Nigra	brain
12	chr4:15697600-15704000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr4:15697600-15704000	Weak transcription	HUVEC	blood vessel
14	chr4:15697600-15704200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:15697600-15704400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:15697600-15723600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:15697800-15701600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr4:15697800-15704000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:15697800-15704000	Weak transcription	Osteobl	bone
20	chr4:15698000-15703600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr4:15698000-15703800	Weak transcription	NHDF-Ad	bronchial
22	chr4:15698000-15704000	Weak transcription	NH-A	brain
23	chr4:15698800-15703800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:15699000-15703800	Weak transcription	Primary T cells from cord blood	blood
25	chr4:15699200-15701600	Weak transcription	A549	lung
26	chr4:15699200-15701800	Active TSS	Liver	Liver
27	chr4:15699200-15703600	Weak transcription	Dnd41	blood
28	chr4:15700600-15702000	Active TSS	Primary B cells from cord blood	blood
29	chr4:15700600-15703200	Enhancers	HepG2	liver
30	chr4:15700800-15702800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr4:15700800-15703800	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr4:15701000-15704200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr4:15701200-15702400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:15701200-15704000	Enhancers	Fetal Intestine Small	intestine

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