Variant report

Variant	rs4698424
Chromosome Location	chr4:15915036-15915037
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11723486	0.87[ASN][1000 genomes]
rs2907369	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2907370	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[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	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
2	nsv916742	chr4:15797994-16064232	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv878715	chr4:15840839-15947493	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv980398	chr4:15909547-15927288	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv878716	chr4:15911031-15947493	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4698424	LCORL	cis	parietal	SCAN
rs4698424	CD38	cis	parietal	SCAN
rs4698424	FGFBP2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15911600-15920200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:15911600-15924000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:15912600-15916200	Enhancers	NHEK	skin
4	chr4:15913600-15915600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:15913600-15924400	Enhancers	HMEC	breast
6	chr4:15913800-15915200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:15913800-15915200	Enhancers	Placenta	Placenta
8	chr4:15913800-15915400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr4:15913800-15915800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:15913800-15915800	Enhancers	NH-A	brain
11	chr4:15914000-15915400	Enhancers	Stomach Mucosa	stomach
12	chr4:15914000-15916400	Enhancers	Osteobl	bone
13	chr4:15914200-15915200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:15914200-15915200	Enhancers	Fetal Kidney	kidney
15	chr4:15914200-15915400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:15914200-15915800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:15914400-15915200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:15914400-15915600	Enhancers	HSMM	muscle
19	chr4:15914400-15915800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:15914400-15915800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:15914400-15917200	Enhancers	Hela-S3	cervix
22	chr4:15914600-15915600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:15914600-15915600	Enhancers	NHDF-Ad	bronchial
24	chr4:15914600-15915600	Enhancers	NHLF	lung
25	chr4:15914600-15916000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:15914600-15916000	Enhancers	HUVEC	blood vessel
27	chr4:15914600-15916200	Weak transcription	Esophagus	oesophagus
28	chr4:15914800-15915400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:15915000-15915200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:15915000-15915200	Enhancers	A549	lung
31	chr4:15915000-15915600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr4:15915000-15916400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:15915000-15921400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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