Variant report

Variant	rs62318965
Chromosome Location	chr4:152984788-152984789
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10025575	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10032875	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11933363	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12651619	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12651644	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13102186	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1425397	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1559694	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17028501	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1991224	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4696127	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4696312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6535832	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6535833	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6829751	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6842274	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7654909	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7655280	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7655455	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7656880	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7673034	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7673072	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7678563	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv461679	chr4:152935555-152992741	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv595734	chr4:152935555-152992741	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62318965	RP11-18H21.1	cis	Whole Blood	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152978800-152985000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:152981200-152984800	Weak transcription	Fetal Heart	heart
3	chr4:152981200-152985400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:152983200-152985800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr4:152983600-152985600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:152983800-152984800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:152983800-152984800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:152983800-152985400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr4:152983800-153000800	Enhancers	Fetal Thymus	thymus
10	chr4:152984000-152986600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:152984000-152988000	Enhancers	Dnd41	blood
12	chr4:152984000-152988200	Enhancers	Thymus	Thymus
13	chr4:152984200-152985000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:152984200-152985000	Enhancers	HSMMtube	muscle
15	chr4:152984200-152985400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:152984200-152985600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:152984200-152985600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr4:152984200-152986800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:152984200-152987200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr4:152984400-152984800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr4:152984400-152985200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr4:152984400-152985200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr4:152984400-152985200	Enhancers	Stomach Mucosa	stomach
24	chr4:152984400-152985400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:152984400-152985800	Enhancers	Primary T cells from cord blood	blood
26	chr4:152984400-152985800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr4:152984400-152986000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr4:152984400-152986200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr4:152984400-152987600	Enhancers	Fetal Muscle Leg	muscle
30	chr4:152984600-152985200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:152984600-152986400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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