Variant report

Variant	rs10018731
Chromosome Location	chr4:142728951-142728952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10010190	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11932790	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11937562	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12640909	0.90[ASN][1000 genomes]
rs1493016	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17644878	0.93[ASN][1000 genomes]
rs17644908	0.95[ASN][1000 genomes]
rs17645483	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17701891	1.00[ASN][1000 genomes]
rs17702304	0.97[ASN][1000 genomes]
rs2067811	0.90[ASN][1000 genomes]
rs2120051	0.90[ASN][1000 genomes]
rs2241911	0.97[ASN][1000 genomes]
rs2322353	0.98[ASN][1000 genomes]
rs28510073	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28513280	0.97[ASN][1000 genomes]
rs2874763	0.98[ASN][1000 genomes]
rs4487442	0.98[ASN][1000 genomes]
rs55696450	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55748334	0.90[ASN][1000 genomes]
rs56410852	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58462825	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72712491	0.98[ASN][1000 genomes]
rs72712496	1.00[ASN][1000 genomes]
rs72714418	0.97[ASN][1000 genomes]
rs923795	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9999761	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[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	esv3401979	chr4:142434442-142803321	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1018949	chr4:142451823-142732365	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027004	chr4:142487721-143007320	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv830095	chr4:142695078-142884988	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10018731	ZNF827	cis	cerebellum	SCAN
rs10018731	CCRN4L	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142727400-142729200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:142727400-142729400	Enhancers	NHDF-Ad	bronchial
3	chr4:142727600-142729000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:142727600-142729000	Enhancers	NH-A	brain
5	chr4:142727600-142729200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:142727600-142729600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:142727800-142729000	Enhancers	HSMM	muscle
8	chr4:142727800-142729200	Enhancers	Osteobl	bone
9	chr4:142728200-142729000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:142728200-142729000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:142728200-142729200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:142728200-142729200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:142728200-142729200	Enhancers	Hela-S3	cervix
14	chr4:142728200-142729400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr4:142728200-142729600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:142728400-142729000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:142728400-142729000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:142728400-142729000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:142728400-142729000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:142728400-142729000	Enhancers	HMEC	breast
21	chr4:142728400-142729000	Enhancers	NHLF	lung
22	chr4:142728400-142729200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr4:142728400-142729200	Enhancers	HSMMtube	muscle
24	chr4:142728400-142729400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:142728600-142729000	Enhancers	Brain Germinal Matrix	brain
26	chr4:142728600-142729000	Enhancers	A549	lung
27	chr4:142728600-142729000	Enhancers	NHEK	skin
28	chr4:142728600-142729200	Enhancers	Fetal Brain Female	brain
29	chr4:142728800-142732400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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