Variant report

Variant	rs7696938
Chromosome Location	chr4:15703577-15703578
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1125378	0.80[CHD][hapmap]
rs11728037	0.86[CHB][hapmap]
rs12500587	0.80[ASW][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.84[YRI][hapmap];0.89[ASN][1000 genomes]
rs13110674	0.90[ASN][1000 genomes]
rs1558572	0.81[CHD][hapmap]
rs4235379	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.86[LWK][hapmap];0.95[MKK][hapmap];0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4358397	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4382032	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4698406	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs61021642	0.89[ASN][1000 genomes]
rs6449153	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6449161	0.84[CEU][hapmap]
rs6812708	0.80[CHD][hapmap];0.85[JPT][hapmap]
rs6850169	0.85[ASN][1000 genomes]
rs7688984	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7690362	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8180240	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9918079	0.86[CHB][hapmap];0.81[CHD][hapmap]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7696938	FBXL5	Cis_1M	lymphoblastoid	RTeQTL
rs7696938	BST1	cis	multi-tissue	Pritchard

Chromatin state (count:36 , 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	chr4:15694800-15703800	Weak transcription	Brain Substantia Nigra	brain
9	chr4:15697600-15704000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:15697600-15704000	Weak transcription	HUVEC	blood vessel
11	chr4:15697600-15704200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:15697600-15704400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:15697600-15723600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:15697800-15704000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:15697800-15704000	Weak transcription	Osteobl	bone
16	chr4:15698000-15703600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr4:15698000-15703800	Weak transcription	NHDF-Ad	bronchial
18	chr4:15698000-15704000	Weak transcription	NH-A	brain
19	chr4:15698800-15703800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:15699000-15703800	Weak transcription	Primary T cells from cord blood	blood
21	chr4:15699200-15703600	Weak transcription	Dnd41	blood
22	chr4:15700800-15703800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr4:15701000-15704200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr4:15701200-15704000	Enhancers	Fetal Intestine Small	intestine
25	chr4:15701800-15704000	Enhancers	Fetal Intestine Large	intestine
26	chr4:15702000-15703600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:15702000-15703600	Weak transcription	A549	lung
28	chr4:15702000-15703800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:15702200-15703600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr4:15702600-15703800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr4:15702600-15704400	Enhancers	Liver	Liver
32	chr4:15703200-15704000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:15703200-15704600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr4:15703200-15706600	Weak transcription	HepG2	liver
35	chr4:15703400-15703800	Enhancers	Primary B cells from cord blood	blood
36	chr4:15703400-15704000	Enhancers	Primary hematopoietic stem cells	blood

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